Genotypes, haplotypes and diplotypes of three XPC polymorphisms in urinary-bladder cancer patients
PURPOSE: The XPC gene is involved in DNA damage recognition in the nucleotide excision repair pathway (NER). We investigated the additive effects of single nucleotide polymorphisms (SNPs) in bladder-cancer patients and population controls for three XPC polymorphisms: A499V (C>T), K939Q (A>C),...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Verdier, Petra J. de [verfasserIn] Sanyal, Somali [verfasserIn] Lorenzo Bermejo, Justo - 1972- [verfasserIn] Steineck, Gunnar [verfasserIn] Hemminki, Kari - 1947- [verfasserIn] Kumar, Rajiv [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
29 September 2010 |
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| Schlagwörter: |
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| Anmerkung: |
Gesehen am 15.09.2023 |
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| Umfang: |
6 |
| Übergeordnetes Werk: |
Enthalten in: Mutation research. Fundamental and molecular mechanisms of mutagenesis - Amsterdam : Elsevier, 1964, 694(2010), 1/2 vom: Dez., Seite 39-44 |
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| Übergeordnetes Werk: |
volume:694 ; year:2010 ; number:1/2 ; month:12 ; pages:39-44 ; extent:6 |
| Links: |
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| DOI / URN: |
10.1016/j.mrfmmm.2010.09.003 |
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| Katalog-ID: |
1859701175 |
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| 100 | 1 | |a Verdier, Petra J. de |e verfasserin |0 (DE-588)1302607197 |0 (DE-627)1859702236 |4 aut | |
| 245 | 1 | 0 | |a Genotypes, haplotypes and diplotypes of three XPC polymorphisms in urinary-bladder cancer patients |c Petra J. de Verdier, Somali Sanyal, Justo Lorenzo Bermejo, Gunnar Steineck, Kari Hemminki, Rajiv Kumar |
| 264 | 1 | |c 29 September 2010 | |
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| 500 | |a Gesehen am 15.09.2023 | ||
| 520 | |a PURPOSE: The XPC gene is involved in DNA damage recognition in the nucleotide excision repair pathway (NER). We investigated the additive effects of single nucleotide polymorphisms (SNPs) in bladder-cancer patients and population controls for three XPC polymorphisms: A499V (C>T), K939Q (A>C), and poly AT (PAT, -/+). - EXPERIMENTAL DESIGN: 311 bladder-cancer patients from a population-based cohort and 337 population controls were genotyped using the PCR-restriction fragment length polymorphism (RFLP) technique. - RESULTS: We found complete linkage between the K939Q (A>C) and PAT (-/+) polymorphisms and therefore only the K939Q (A>C) polymorphism was included in analyses. The over all estimated odds ratio was 1.7 (95% CI 1.3-2.4) for A499V (C>T) and 1.4 (95% CI 1.0-2.0) for K939Q (A>C). The associated odds ratio increase with the variant allele homozygotes was six-fold for the A499V (C>T) and three-fold for the K939Q (A>C) polymorphism (OR=5.7, 95% CI 3.4-9.5 and OR=2.6, 95% CI 1.3-5.6, respectively). The variant allele haplotype of the two polymorphisms (T₄₉₉C₉₃₉) was associated with a nearly four fold increased odds ratio compared to the common allele haplotype (C₄₉₉A₉₃₉) (OR=3.6, 95% CI:1.9-6.9). Combined genotype analysis showed an increased disease association with increasing number of variant alleles (p<0.0001), with a dominant effect of the A499V polymorphism. In addition we observed association of the disease with increasing number of variant alleles for the A499V polymorphism and an early age at diagnosis (p=0.004). - CONCLUSIONS: Our results suggest an association between the XPC genotypes of the A499V, K939Q and PAT polymorphisms and urinary-bladder cancer. We propose a poly-allelic effect of these polymorphisms where the cumulative effect on disease becomes higher than the individual allelic effects. | ||
| 650 | 4 | |a Adult | |
| 650 | 4 | |a Aged | |
| 650 | 4 | |a Aged, 80 and over | |
| 650 | 4 | |a Alleles | |
| 650 | 4 | |a DNA-Binding Proteins | |
| 650 | 4 | |a Female | |
| 650 | 4 | |a Genetic Linkage | |
| 650 | 4 | |a Genotype | |
| 650 | 4 | |a Haplotypes | |
| 650 | 4 | |a Homozygote | |
| 650 | 4 | |a Humans | |
| 650 | 4 | |a Male | |
| 650 | 4 | |a Middle Aged | |
| 650 | 4 | |a Polymorphism, Genetic | |
| 650 | 4 | |a Urinary Bladder Neoplasms | |
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10.1016/j.mrfmmm.2010.09.003 doi (DE-627)1859701175 (DE-599)KXP1859701175 (OCoLC)1425873642 DE-627 ger DE-627 rda eng Verdier, Petra J. de verfasserin (DE-588)1302607197 (DE-627)1859702236 aut Genotypes, haplotypes and diplotypes of three XPC polymorphisms in urinary-bladder cancer patients Petra J. de Verdier, Somali Sanyal, Justo Lorenzo Bermejo, Gunnar Steineck, Kari Hemminki, Rajiv Kumar 29 September 2010 6 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Gesehen am 15.09.2023 PURPOSE: The XPC gene is involved in DNA damage recognition in the nucleotide excision repair pathway (NER). We investigated the additive effects of single nucleotide polymorphisms (SNPs) in bladder-cancer patients and population controls for three XPC polymorphisms: A499V (C>T), K939Q (A>C), and poly AT (PAT, -/+). - EXPERIMENTAL DESIGN: 311 bladder-cancer patients from a population-based cohort and 337 population controls were genotyped using the PCR-restriction fragment length polymorphism (RFLP) technique. - RESULTS: We found complete linkage between the K939Q (A>C) and PAT (-/+) polymorphisms and therefore only the K939Q (A>C) polymorphism was included in analyses. The over all estimated odds ratio was 1.7 (95% CI 1.3-2.4) for A499V (C>T) and 1.4 (95% CI 1.0-2.0) for K939Q (A>C). The associated odds ratio increase with the variant allele homozygotes was six-fold for the A499V (C>T) and three-fold for the K939Q (A>C) polymorphism (OR=5.7, 95% CI 3.4-9.5 and OR=2.6, 95% CI 1.3-5.6, respectively). The variant allele haplotype of the two polymorphisms (T₄₉₉C₉₃₉) was associated with a nearly four fold increased odds ratio compared to the common allele haplotype (C₄₉₉A₉₃₉) (OR=3.6, 95% CI:1.9-6.9). Combined genotype analysis showed an increased disease association with increasing number of variant alleles (p<0.0001), with a dominant effect of the A499V polymorphism. In addition we observed association of the disease with increasing number of variant alleles for the A499V polymorphism and an early age at diagnosis (p=0.004). - CONCLUSIONS: Our results suggest an association between the XPC genotypes of the A499V, K939Q and PAT polymorphisms and urinary-bladder cancer. We propose a poly-allelic effect of these polymorphisms where the cumulative effect on disease becomes higher than the individual allelic effects. Adult Aged Aged, 80 and over Alleles DNA-Binding Proteins Female Genetic Linkage Genotype Haplotypes Homozygote Humans Male Middle Aged Polymorphism, Genetic Urinary Bladder Neoplasms Sanyal, Somali verfasserin aut Lorenzo Bermejo, Justo 1972- verfasserin (DE-588)124754619 (DE-627)706705572 (DE-576)294483632 aut Steineck, Gunnar verfasserin aut Hemminki, Kari 1947- verfasserin (DE-588)1150735872 (DE-627)1010964402 (DE-576)172043751 aut Kumar, Rajiv verfasserin aut Enthalten in Mutation research. Fundamental and molecular mechanisms of mutagenesis Amsterdam : Elsevier, 1964 694(2010), 1/2 vom: Dez., Seite 39-44 Online-Ressource (DE-627)30246607X (DE-600)1491099-8 (DE-576)079719309 1879-2871 nnns volume:694 year:2010 number:1/2 month:12 pages:39-44 extent:6 https://doi.org/10.1016/j.mrfmmm.2010.09.003 Verlag Resolving-System lizenzpflichtig Volltext GBV_USEFLAG_U GBV_ILN_2013 ISIL_DE-16-250 SYSFLAG_1 GBV_KXP GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 AR 694 2010 1/2 12 39-44 6 2013 01 DE-16-250 4376721301 00 --%%-- --%%-- --%%-- --%%-- l01 15-09-23 2013 01 DE-16-250 00 s hd2010 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_6 2013 01 DE-16-250 03 s s_6 2013 01 DE-16-250 04 p (DE-627)1462354653 Lorenzo Bermejo, Justo 2013 01 DE-16-250 04 k (DE-627)1416741593 Institut für Medizinische Biometrie und Informatik 2013 01 DE-16-250 04 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_3 2013 01 DE-16-250 05 p (DE-627)1567234704 Hemminki, Kari 2013 01 DE-16-250 05 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 05 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 05 s pos_5 |
| spelling |
10.1016/j.mrfmmm.2010.09.003 doi (DE-627)1859701175 (DE-599)KXP1859701175 (OCoLC)1425873642 DE-627 ger DE-627 rda eng Verdier, Petra J. de verfasserin (DE-588)1302607197 (DE-627)1859702236 aut Genotypes, haplotypes and diplotypes of three XPC polymorphisms in urinary-bladder cancer patients Petra J. de Verdier, Somali Sanyal, Justo Lorenzo Bermejo, Gunnar Steineck, Kari Hemminki, Rajiv Kumar 29 September 2010 6 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Gesehen am 15.09.2023 PURPOSE: The XPC gene is involved in DNA damage recognition in the nucleotide excision repair pathway (NER). We investigated the additive effects of single nucleotide polymorphisms (SNPs) in bladder-cancer patients and population controls for three XPC polymorphisms: A499V (C>T), K939Q (A>C), and poly AT (PAT, -/+). - EXPERIMENTAL DESIGN: 311 bladder-cancer patients from a population-based cohort and 337 population controls were genotyped using the PCR-restriction fragment length polymorphism (RFLP) technique. - RESULTS: We found complete linkage between the K939Q (A>C) and PAT (-/+) polymorphisms and therefore only the K939Q (A>C) polymorphism was included in analyses. The over all estimated odds ratio was 1.7 (95% CI 1.3-2.4) for A499V (C>T) and 1.4 (95% CI 1.0-2.0) for K939Q (A>C). The associated odds ratio increase with the variant allele homozygotes was six-fold for the A499V (C>T) and three-fold for the K939Q (A>C) polymorphism (OR=5.7, 95% CI 3.4-9.5 and OR=2.6, 95% CI 1.3-5.6, respectively). The variant allele haplotype of the two polymorphisms (T₄₉₉C₉₃₉) was associated with a nearly four fold increased odds ratio compared to the common allele haplotype (C₄₉₉A₉₃₉) (OR=3.6, 95% CI:1.9-6.9). Combined genotype analysis showed an increased disease association with increasing number of variant alleles (p<0.0001), with a dominant effect of the A499V polymorphism. In addition we observed association of the disease with increasing number of variant alleles for the A499V polymorphism and an early age at diagnosis (p=0.004). - CONCLUSIONS: Our results suggest an association between the XPC genotypes of the A499V, K939Q and PAT polymorphisms and urinary-bladder cancer. We propose a poly-allelic effect of these polymorphisms where the cumulative effect on disease becomes higher than the individual allelic effects. Adult Aged Aged, 80 and over Alleles DNA-Binding Proteins Female Genetic Linkage Genotype Haplotypes Homozygote Humans Male Middle Aged Polymorphism, Genetic Urinary Bladder Neoplasms Sanyal, Somali verfasserin aut Lorenzo Bermejo, Justo 1972- verfasserin (DE-588)124754619 (DE-627)706705572 (DE-576)294483632 aut Steineck, Gunnar verfasserin aut Hemminki, Kari 1947- verfasserin (DE-588)1150735872 (DE-627)1010964402 (DE-576)172043751 aut Kumar, Rajiv verfasserin aut Enthalten in Mutation research. Fundamental and molecular mechanisms of mutagenesis Amsterdam : Elsevier, 1964 694(2010), 1/2 vom: Dez., Seite 39-44 Online-Ressource (DE-627)30246607X (DE-600)1491099-8 (DE-576)079719309 1879-2871 nnns volume:694 year:2010 number:1/2 month:12 pages:39-44 extent:6 https://doi.org/10.1016/j.mrfmmm.2010.09.003 Verlag Resolving-System lizenzpflichtig Volltext GBV_USEFLAG_U GBV_ILN_2013 ISIL_DE-16-250 SYSFLAG_1 GBV_KXP GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 AR 694 2010 1/2 12 39-44 6 2013 01 DE-16-250 4376721301 00 --%%-- --%%-- --%%-- --%%-- l01 15-09-23 2013 01 DE-16-250 00 s hd2010 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_6 2013 01 DE-16-250 03 s s_6 2013 01 DE-16-250 04 p (DE-627)1462354653 Lorenzo Bermejo, Justo 2013 01 DE-16-250 04 k (DE-627)1416741593 Institut für Medizinische Biometrie und Informatik 2013 01 DE-16-250 04 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_3 2013 01 DE-16-250 05 p (DE-627)1567234704 Hemminki, Kari 2013 01 DE-16-250 05 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 05 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 05 s pos_5 |
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10.1016/j.mrfmmm.2010.09.003 doi (DE-627)1859701175 (DE-599)KXP1859701175 (OCoLC)1425873642 DE-627 ger DE-627 rda eng Verdier, Petra J. de verfasserin (DE-588)1302607197 (DE-627)1859702236 aut Genotypes, haplotypes and diplotypes of three XPC polymorphisms in urinary-bladder cancer patients Petra J. de Verdier, Somali Sanyal, Justo Lorenzo Bermejo, Gunnar Steineck, Kari Hemminki, Rajiv Kumar 29 September 2010 6 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Gesehen am 15.09.2023 PURPOSE: The XPC gene is involved in DNA damage recognition in the nucleotide excision repair pathway (NER). We investigated the additive effects of single nucleotide polymorphisms (SNPs) in bladder-cancer patients and population controls for three XPC polymorphisms: A499V (C>T), K939Q (A>C), and poly AT (PAT, -/+). - EXPERIMENTAL DESIGN: 311 bladder-cancer patients from a population-based cohort and 337 population controls were genotyped using the PCR-restriction fragment length polymorphism (RFLP) technique. - RESULTS: We found complete linkage between the K939Q (A>C) and PAT (-/+) polymorphisms and therefore only the K939Q (A>C) polymorphism was included in analyses. The over all estimated odds ratio was 1.7 (95% CI 1.3-2.4) for A499V (C>T) and 1.4 (95% CI 1.0-2.0) for K939Q (A>C). The associated odds ratio increase with the variant allele homozygotes was six-fold for the A499V (C>T) and three-fold for the K939Q (A>C) polymorphism (OR=5.7, 95% CI 3.4-9.5 and OR=2.6, 95% CI 1.3-5.6, respectively). The variant allele haplotype of the two polymorphisms (T₄₉₉C₉₃₉) was associated with a nearly four fold increased odds ratio compared to the common allele haplotype (C₄₉₉A₉₃₉) (OR=3.6, 95% CI:1.9-6.9). Combined genotype analysis showed an increased disease association with increasing number of variant alleles (p<0.0001), with a dominant effect of the A499V polymorphism. In addition we observed association of the disease with increasing number of variant alleles for the A499V polymorphism and an early age at diagnosis (p=0.004). - CONCLUSIONS: Our results suggest an association between the XPC genotypes of the A499V, K939Q and PAT polymorphisms and urinary-bladder cancer. We propose a poly-allelic effect of these polymorphisms where the cumulative effect on disease becomes higher than the individual allelic effects. Adult Aged Aged, 80 and over Alleles DNA-Binding Proteins Female Genetic Linkage Genotype Haplotypes Homozygote Humans Male Middle Aged Polymorphism, Genetic Urinary Bladder Neoplasms Sanyal, Somali verfasserin aut Lorenzo Bermejo, Justo 1972- verfasserin (DE-588)124754619 (DE-627)706705572 (DE-576)294483632 aut Steineck, Gunnar verfasserin aut Hemminki, Kari 1947- verfasserin (DE-588)1150735872 (DE-627)1010964402 (DE-576)172043751 aut Kumar, Rajiv verfasserin aut Enthalten in Mutation research. Fundamental and molecular mechanisms of mutagenesis Amsterdam : Elsevier, 1964 694(2010), 1/2 vom: Dez., Seite 39-44 Online-Ressource (DE-627)30246607X (DE-600)1491099-8 (DE-576)079719309 1879-2871 nnns volume:694 year:2010 number:1/2 month:12 pages:39-44 extent:6 https://doi.org/10.1016/j.mrfmmm.2010.09.003 Verlag Resolving-System lizenzpflichtig Volltext GBV_USEFLAG_U GBV_ILN_2013 ISIL_DE-16-250 SYSFLAG_1 GBV_KXP GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 AR 694 2010 1/2 12 39-44 6 2013 01 DE-16-250 4376721301 00 --%%-- --%%-- --%%-- --%%-- l01 15-09-23 2013 01 DE-16-250 00 s hd2010 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_6 2013 01 DE-16-250 03 s s_6 2013 01 DE-16-250 04 p (DE-627)1462354653 Lorenzo Bermejo, Justo 2013 01 DE-16-250 04 k (DE-627)1416741593 Institut für Medizinische Biometrie und Informatik 2013 01 DE-16-250 04 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_3 2013 01 DE-16-250 05 p (DE-627)1567234704 Hemminki, Kari 2013 01 DE-16-250 05 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 05 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 05 s pos_5 |
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10.1016/j.mrfmmm.2010.09.003 doi (DE-627)1859701175 (DE-599)KXP1859701175 (OCoLC)1425873642 DE-627 ger DE-627 rda eng Verdier, Petra J. de verfasserin (DE-588)1302607197 (DE-627)1859702236 aut Genotypes, haplotypes and diplotypes of three XPC polymorphisms in urinary-bladder cancer patients Petra J. de Verdier, Somali Sanyal, Justo Lorenzo Bermejo, Gunnar Steineck, Kari Hemminki, Rajiv Kumar 29 September 2010 6 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Gesehen am 15.09.2023 PURPOSE: The XPC gene is involved in DNA damage recognition in the nucleotide excision repair pathway (NER). We investigated the additive effects of single nucleotide polymorphisms (SNPs) in bladder-cancer patients and population controls for three XPC polymorphisms: A499V (C>T), K939Q (A>C), and poly AT (PAT, -/+). - EXPERIMENTAL DESIGN: 311 bladder-cancer patients from a population-based cohort and 337 population controls were genotyped using the PCR-restriction fragment length polymorphism (RFLP) technique. - RESULTS: We found complete linkage between the K939Q (A>C) and PAT (-/+) polymorphisms and therefore only the K939Q (A>C) polymorphism was included in analyses. The over all estimated odds ratio was 1.7 (95% CI 1.3-2.4) for A499V (C>T) and 1.4 (95% CI 1.0-2.0) for K939Q (A>C). The associated odds ratio increase with the variant allele homozygotes was six-fold for the A499V (C>T) and three-fold for the K939Q (A>C) polymorphism (OR=5.7, 95% CI 3.4-9.5 and OR=2.6, 95% CI 1.3-5.6, respectively). The variant allele haplotype of the two polymorphisms (T₄₉₉C₉₃₉) was associated with a nearly four fold increased odds ratio compared to the common allele haplotype (C₄₉₉A₉₃₉) (OR=3.6, 95% CI:1.9-6.9). Combined genotype analysis showed an increased disease association with increasing number of variant alleles (p<0.0001), with a dominant effect of the A499V polymorphism. In addition we observed association of the disease with increasing number of variant alleles for the A499V polymorphism and an early age at diagnosis (p=0.004). - CONCLUSIONS: Our results suggest an association between the XPC genotypes of the A499V, K939Q and PAT polymorphisms and urinary-bladder cancer. We propose a poly-allelic effect of these polymorphisms where the cumulative effect on disease becomes higher than the individual allelic effects. Adult Aged Aged, 80 and over Alleles DNA-Binding Proteins Female Genetic Linkage Genotype Haplotypes Homozygote Humans Male Middle Aged Polymorphism, Genetic Urinary Bladder Neoplasms Sanyal, Somali verfasserin aut Lorenzo Bermejo, Justo 1972- verfasserin (DE-588)124754619 (DE-627)706705572 (DE-576)294483632 aut Steineck, Gunnar verfasserin aut Hemminki, Kari 1947- verfasserin (DE-588)1150735872 (DE-627)1010964402 (DE-576)172043751 aut Kumar, Rajiv verfasserin aut Enthalten in Mutation research. Fundamental and molecular mechanisms of mutagenesis Amsterdam : Elsevier, 1964 694(2010), 1/2 vom: Dez., Seite 39-44 Online-Ressource (DE-627)30246607X (DE-600)1491099-8 (DE-576)079719309 1879-2871 nnns volume:694 year:2010 number:1/2 month:12 pages:39-44 extent:6 https://doi.org/10.1016/j.mrfmmm.2010.09.003 Verlag Resolving-System lizenzpflichtig Volltext GBV_USEFLAG_U GBV_ILN_2013 ISIL_DE-16-250 SYSFLAG_1 GBV_KXP GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 AR 694 2010 1/2 12 39-44 6 2013 01 DE-16-250 4376721301 00 --%%-- --%%-- --%%-- --%%-- l01 15-09-23 2013 01 DE-16-250 00 s hd2010 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_6 2013 01 DE-16-250 03 s s_6 2013 01 DE-16-250 04 p (DE-627)1462354653 Lorenzo Bermejo, Justo 2013 01 DE-16-250 04 k (DE-627)1416741593 Institut für Medizinische Biometrie und Informatik 2013 01 DE-16-250 04 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_3 2013 01 DE-16-250 05 p (DE-627)1567234704 Hemminki, Kari 2013 01 DE-16-250 05 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 05 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 05 s pos_5 |
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10.1016/j.mrfmmm.2010.09.003 doi (DE-627)1859701175 (DE-599)KXP1859701175 (OCoLC)1425873642 DE-627 ger DE-627 rda eng Verdier, Petra J. de verfasserin (DE-588)1302607197 (DE-627)1859702236 aut Genotypes, haplotypes and diplotypes of three XPC polymorphisms in urinary-bladder cancer patients Petra J. de Verdier, Somali Sanyal, Justo Lorenzo Bermejo, Gunnar Steineck, Kari Hemminki, Rajiv Kumar 29 September 2010 6 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Gesehen am 15.09.2023 PURPOSE: The XPC gene is involved in DNA damage recognition in the nucleotide excision repair pathway (NER). We investigated the additive effects of single nucleotide polymorphisms (SNPs) in bladder-cancer patients and population controls for three XPC polymorphisms: A499V (C>T), K939Q (A>C), and poly AT (PAT, -/+). - EXPERIMENTAL DESIGN: 311 bladder-cancer patients from a population-based cohort and 337 population controls were genotyped using the PCR-restriction fragment length polymorphism (RFLP) technique. - RESULTS: We found complete linkage between the K939Q (A>C) and PAT (-/+) polymorphisms and therefore only the K939Q (A>C) polymorphism was included in analyses. The over all estimated odds ratio was 1.7 (95% CI 1.3-2.4) for A499V (C>T) and 1.4 (95% CI 1.0-2.0) for K939Q (A>C). The associated odds ratio increase with the variant allele homozygotes was six-fold for the A499V (C>T) and three-fold for the K939Q (A>C) polymorphism (OR=5.7, 95% CI 3.4-9.5 and OR=2.6, 95% CI 1.3-5.6, respectively). The variant allele haplotype of the two polymorphisms (T₄₉₉C₉₃₉) was associated with a nearly four fold increased odds ratio compared to the common allele haplotype (C₄₉₉A₉₃₉) (OR=3.6, 95% CI:1.9-6.9). Combined genotype analysis showed an increased disease association with increasing number of variant alleles (p<0.0001), with a dominant effect of the A499V polymorphism. In addition we observed association of the disease with increasing number of variant alleles for the A499V polymorphism and an early age at diagnosis (p=0.004). - CONCLUSIONS: Our results suggest an association between the XPC genotypes of the A499V, K939Q and PAT polymorphisms and urinary-bladder cancer. We propose a poly-allelic effect of these polymorphisms where the cumulative effect on disease becomes higher than the individual allelic effects. Adult Aged Aged, 80 and over Alleles DNA-Binding Proteins Female Genetic Linkage Genotype Haplotypes Homozygote Humans Male Middle Aged Polymorphism, Genetic Urinary Bladder Neoplasms Sanyal, Somali verfasserin aut Lorenzo Bermejo, Justo 1972- verfasserin (DE-588)124754619 (DE-627)706705572 (DE-576)294483632 aut Steineck, Gunnar verfasserin aut Hemminki, Kari 1947- verfasserin (DE-588)1150735872 (DE-627)1010964402 (DE-576)172043751 aut Kumar, Rajiv verfasserin aut Enthalten in Mutation research. Fundamental and molecular mechanisms of mutagenesis Amsterdam : Elsevier, 1964 694(2010), 1/2 vom: Dez., Seite 39-44 Online-Ressource (DE-627)30246607X (DE-600)1491099-8 (DE-576)079719309 1879-2871 nnns volume:694 year:2010 number:1/2 month:12 pages:39-44 extent:6 https://doi.org/10.1016/j.mrfmmm.2010.09.003 Verlag Resolving-System lizenzpflichtig Volltext GBV_USEFLAG_U GBV_ILN_2013 ISIL_DE-16-250 SYSFLAG_1 GBV_KXP GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 AR 694 2010 1/2 12 39-44 6 2013 01 DE-16-250 4376721301 00 --%%-- --%%-- --%%-- --%%-- l01 15-09-23 2013 01 DE-16-250 00 s hd2010 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_6 2013 01 DE-16-250 03 s s_6 2013 01 DE-16-250 04 p (DE-627)1462354653 Lorenzo Bermejo, Justo 2013 01 DE-16-250 04 k (DE-627)1416741593 Institut für Medizinische Biometrie und Informatik 2013 01 DE-16-250 04 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_3 2013 01 DE-16-250 05 p (DE-627)1567234704 Hemminki, Kari 2013 01 DE-16-250 05 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 05 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 05 s pos_5 |
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<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a2200265 4500</leader><controlfield tag="001">1859701175</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20240311123905.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230915s2010 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1016/j.mrfmmm.2010.09.003</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)1859701175</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)KXP1859701175</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(OCoLC)1425873642</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rda</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Verdier, Petra J. de</subfield><subfield code="e">verfasserin</subfield><subfield code="0">(DE-588)1302607197</subfield><subfield code="0">(DE-627)1859702236</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Genotypes, haplotypes and diplotypes of three XPC polymorphisms in urinary-bladder cancer patients</subfield><subfield code="c">Petra J. de Verdier, Somali Sanyal, Justo Lorenzo Bermejo, Gunnar Steineck, Kari Hemminki, Rajiv Kumar</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">29 September 2010</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">6</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">Gesehen am 15.09.2023</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">PURPOSE: The XPC gene is involved in DNA damage recognition in the nucleotide excision repair pathway (NER). We investigated the additive effects of single nucleotide polymorphisms (SNPs) in bladder-cancer patients and population controls for three XPC polymorphisms: A499V (C>T), K939Q (A>C), and poly AT (PAT, -/+). - EXPERIMENTAL DESIGN: 311 bladder-cancer patients from a population-based cohort and 337 population controls were genotyped using the PCR-restriction fragment length polymorphism (RFLP) technique. - RESULTS: We found complete linkage between the K939Q (A>C) and PAT (-/+) polymorphisms and therefore only the K939Q (A>C) polymorphism was included in analyses. The over all estimated odds ratio was 1.7 (95% CI 1.3-2.4) for A499V (C>T) and 1.4 (95% CI 1.0-2.0) for K939Q (A>C). The associated odds ratio increase with the variant allele homozygotes was six-fold for the A499V (C>T) and three-fold for the K939Q (A>C) polymorphism (OR=5.7, 95% CI 3.4-9.5 and OR=2.6, 95% CI 1.3-5.6, respectively). The variant allele haplotype of the two polymorphisms (T₄₉₉C₉₃₉) was associated with a nearly four fold increased odds ratio compared to the common allele haplotype (C₄₉₉A₉₃₉) (OR=3.6, 95% CI:1.9-6.9). Combined genotype analysis showed an increased disease association with increasing number of variant alleles (p<0.0001), with a dominant effect of the A499V polymorphism. In addition we observed association of the disease with increasing number of variant alleles for the A499V polymorphism and an early age at diagnosis (p=0.004). - CONCLUSIONS: Our results suggest an association between the XPC genotypes of the A499V, K939Q and PAT polymorphisms and urinary-bladder cancer. 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Verdier, Petra J. de misc Adult misc Aged misc Aged, 80 and over misc Alleles misc DNA-Binding Proteins misc Female misc Genetic Linkage misc Genotype misc Haplotypes misc Homozygote misc Humans misc Male misc Middle Aged misc Polymorphism, Genetic misc Urinary Bladder Neoplasms 2013 hd2010 2013 wissenschaftlicher Artikel (Zeitschrift) 2013 per_6 2013 s_6 2013 Lorenzo Bermejo, Justo 2013 Institut für Medizinische Biometrie und Informatik 2013 Medizinische Fakultät Heidelberg 2013 Verfasser 2013 pos_3 2013 Hemminki, Kari 2013 pos_5 Genotypes, haplotypes and diplotypes of three XPC polymorphisms in urinary-bladder cancer patients |
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Genotypes, haplotypes and diplotypes of three XPC polymorphisms in urinary-bladder cancer patients Petra J. de Verdier, Somali Sanyal, Justo Lorenzo Bermejo, Gunnar Steineck, Kari Hemminki, Rajiv Kumar |
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genotypes, haplotypes and diplotypes of three xpc polymorphisms in urinary-bladder cancer patients |
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Genotypes, haplotypes and diplotypes of three XPC polymorphisms in urinary-bladder cancer patients |
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PURPOSE: The XPC gene is involved in DNA damage recognition in the nucleotide excision repair pathway (NER). We investigated the additive effects of single nucleotide polymorphisms (SNPs) in bladder-cancer patients and population controls for three XPC polymorphisms: A499V (C>T), K939Q (A>C), and poly AT (PAT, -/+). - EXPERIMENTAL DESIGN: 311 bladder-cancer patients from a population-based cohort and 337 population controls were genotyped using the PCR-restriction fragment length polymorphism (RFLP) technique. - RESULTS: We found complete linkage between the K939Q (A>C) and PAT (-/+) polymorphisms and therefore only the K939Q (A>C) polymorphism was included in analyses. The over all estimated odds ratio was 1.7 (95% CI 1.3-2.4) for A499V (C>T) and 1.4 (95% CI 1.0-2.0) for K939Q (A>C). The associated odds ratio increase with the variant allele homozygotes was six-fold for the A499V (C>T) and three-fold for the K939Q (A>C) polymorphism (OR=5.7, 95% CI 3.4-9.5 and OR=2.6, 95% CI 1.3-5.6, respectively). The variant allele haplotype of the two polymorphisms (T₄₉₉C₉₃₉) was associated with a nearly four fold increased odds ratio compared to the common allele haplotype (C₄₉₉A₉₃₉) (OR=3.6, 95% CI:1.9-6.9). Combined genotype analysis showed an increased disease association with increasing number of variant alleles (p<0.0001), with a dominant effect of the A499V polymorphism. In addition we observed association of the disease with increasing number of variant alleles for the A499V polymorphism and an early age at diagnosis (p=0.004). - CONCLUSIONS: Our results suggest an association between the XPC genotypes of the A499V, K939Q and PAT polymorphisms and urinary-bladder cancer. We propose a poly-allelic effect of these polymorphisms where the cumulative effect on disease becomes higher than the individual allelic effects. Gesehen am 15.09.2023 |
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PURPOSE: The XPC gene is involved in DNA damage recognition in the nucleotide excision repair pathway (NER). We investigated the additive effects of single nucleotide polymorphisms (SNPs) in bladder-cancer patients and population controls for three XPC polymorphisms: A499V (C>T), K939Q (A>C), and poly AT (PAT, -/+). - EXPERIMENTAL DESIGN: 311 bladder-cancer patients from a population-based cohort and 337 population controls were genotyped using the PCR-restriction fragment length polymorphism (RFLP) technique. - RESULTS: We found complete linkage between the K939Q (A>C) and PAT (-/+) polymorphisms and therefore only the K939Q (A>C) polymorphism was included in analyses. The over all estimated odds ratio was 1.7 (95% CI 1.3-2.4) for A499V (C>T) and 1.4 (95% CI 1.0-2.0) for K939Q (A>C). The associated odds ratio increase with the variant allele homozygotes was six-fold for the A499V (C>T) and three-fold for the K939Q (A>C) polymorphism (OR=5.7, 95% CI 3.4-9.5 and OR=2.6, 95% CI 1.3-5.6, respectively). The variant allele haplotype of the two polymorphisms (T₄₉₉C₉₃₉) was associated with a nearly four fold increased odds ratio compared to the common allele haplotype (C₄₉₉A₉₃₉) (OR=3.6, 95% CI:1.9-6.9). Combined genotype analysis showed an increased disease association with increasing number of variant alleles (p<0.0001), with a dominant effect of the A499V polymorphism. In addition we observed association of the disease with increasing number of variant alleles for the A499V polymorphism and an early age at diagnosis (p=0.004). - CONCLUSIONS: Our results suggest an association between the XPC genotypes of the A499V, K939Q and PAT polymorphisms and urinary-bladder cancer. We propose a poly-allelic effect of these polymorphisms where the cumulative effect on disease becomes higher than the individual allelic effects. Gesehen am 15.09.2023 |
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PURPOSE: The XPC gene is involved in DNA damage recognition in the nucleotide excision repair pathway (NER). We investigated the additive effects of single nucleotide polymorphisms (SNPs) in bladder-cancer patients and population controls for three XPC polymorphisms: A499V (C>T), K939Q (A>C), and poly AT (PAT, -/+). - EXPERIMENTAL DESIGN: 311 bladder-cancer patients from a population-based cohort and 337 population controls were genotyped using the PCR-restriction fragment length polymorphism (RFLP) technique. - RESULTS: We found complete linkage between the K939Q (A>C) and PAT (-/+) polymorphisms and therefore only the K939Q (A>C) polymorphism was included in analyses. The over all estimated odds ratio was 1.7 (95% CI 1.3-2.4) for A499V (C>T) and 1.4 (95% CI 1.0-2.0) for K939Q (A>C). The associated odds ratio increase with the variant allele homozygotes was six-fold for the A499V (C>T) and three-fold for the K939Q (A>C) polymorphism (OR=5.7, 95% CI 3.4-9.5 and OR=2.6, 95% CI 1.3-5.6, respectively). The variant allele haplotype of the two polymorphisms (T₄₉₉C₉₃₉) was associated with a nearly four fold increased odds ratio compared to the common allele haplotype (C₄₉₉A₉₃₉) (OR=3.6, 95% CI:1.9-6.9). Combined genotype analysis showed an increased disease association with increasing number of variant alleles (p<0.0001), with a dominant effect of the A499V polymorphism. In addition we observed association of the disease with increasing number of variant alleles for the A499V polymorphism and an early age at diagnosis (p=0.004). - CONCLUSIONS: Our results suggest an association between the XPC genotypes of the A499V, K939Q and PAT polymorphisms and urinary-bladder cancer. We propose a poly-allelic effect of these polymorphisms where the cumulative effect on disease becomes higher than the individual allelic effects. Gesehen am 15.09.2023 |
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