High-resolution characterization of allelic and haplotypic HLA frequency distribution in a Spanish population using high-throughput next-generation sequencing
Next-generation sequencing (NGS) at the HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, -DRB1 and -DRB3/4/5 loci was performed on 282 healthy unrelated individuals from different major regions of Spain. High-resolution HLA genotypes defined by full sequencing of class I loci and extended coverage of clas...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Montero-Martín, Gonzalo [verfasserIn] Mallempati, Kalyan C. [verfasserIn] Gangavarapu, Sridevi [verfasserIn] Sánchez-Gordo, Francisco [verfasserIn] Herrero-Mata, Maria J. [verfasserIn] Balas, Antonio [verfasserIn] Vicario, Jose L. [verfasserIn] Sánchez-García, Florentino [verfasserIn] González-Escribano, Maria F. [verfasserIn] Muro, Manuel [verfasserIn] Moya-Quiles, Maria R. [verfasserIn] González-Fernández, Rafael [verfasserIn] Ocejo-Vinyals, Javier G. [verfasserIn] Marín, Luis [verfasserIn] Creary, Lisa E. [verfasserIn] Osoegawa, Kazutoyo [verfasserIn] Vayntrub, Tamara [verfasserIn] Caro-Oleas, Jose L. [verfasserIn] Vilches, Carlos [verfasserIn] Planelles, Dolores [verfasserIn] Fernández-Viña, Marcelo A. [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2019 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Human immunology - Amsterdam [u.a.] : Elsevier Science, 1980, 80, Seite 429-436 |
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| Übergeordnetes Werk: |
volume:80 ; pages:429-436 |
| DOI / URN: |
10.1016/j.humimm.2019.02.005 |
|---|
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| 245 | 1 | 0 | |a High-resolution characterization of allelic and haplotypic HLA frequency distribution in a Spanish population using high-throughput next-generation sequencing |
| 264 | 1 | |c 2019 | |
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| 520 | |a Next-generation sequencing (NGS) at the HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, -DRB1 and -DRB3/4/5 loci was performed on 282 healthy unrelated individuals from different major regions of Spain. High-resolution HLA genotypes defined by full sequencing of class I loci and extended coverage of class II loci were obtained to determine allele frequencies and also to estimate extended haplotype frequencies. HLA alleles were typed at the highest resolution level (4-field level, 4FL); with exception of a minor deviation in HLA-DPA1, no statistically significant deviations from expected Hardy Weinberg Equilibrium (HWE) proportions were observed for all other HLA loci. This study provides new 4FL-allele and -haplotype frequencies estimated for the first time in the Spanish population. Furthermore, our results describe extended haplotypes (including the less frequently typed HLA-DPA1 and HLA-DQA1 loci) and show distinctive haplotype associations found at 4FL-allele definition in this Spanish population study. The distinctive allelic and haplotypic diversity found at the 4FL reveals the high level of heterozygosity and specific haplotypic associations displayed that were not apparent at 2-field level (2FL). Overall, these results may contribute as a useful reference source for future population studies, for HLA-disease association studies as a healthy control group dataset and for improving donor recruitment strategies of bone marrow registries. HLA genotyping data of this Spanish population cohort was also included in the 17th International Histocompatibility and Immunogenetics Workshop (IHIW) as part of the study of HLA diversity in unrelated worldwide populations using NGS. | ||
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| 700 | 1 | |a Gangavarapu, Sridevi |e verfasserin |4 aut | |
| 700 | 1 | |a Sánchez-Gordo, Francisco |e verfasserin |4 aut | |
| 700 | 1 | |a Herrero-Mata, Maria J. |e verfasserin |4 aut | |
| 700 | 1 | |a Balas, Antonio |e verfasserin |4 aut | |
| 700 | 1 | |a Vicario, Jose L. |e verfasserin |4 aut | |
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| 700 | 1 | |a González-Fernández, Rafael |e verfasserin |4 aut | |
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| 700 | 1 | |a Creary, Lisa E. |e verfasserin |4 aut | |
| 700 | 1 | |a Osoegawa, Kazutoyo |e verfasserin |4 aut | |
| 700 | 1 | |a Vayntrub, Tamara |e verfasserin |4 aut | |
| 700 | 1 | |a Caro-Oleas, Jose L. |e verfasserin |4 aut | |
| 700 | 1 | |a Vilches, Carlos |e verfasserin |4 aut | |
| 700 | 1 | |a Planelles, Dolores |e verfasserin |0 (orcid)0000-0003-2245-4639 |4 aut | |
| 700 | 1 | |a Fernández-Viña, Marcelo A. |e verfasserin |4 aut | |
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10.1016/j.humimm.2019.02.005 doi (DE-627)ELV002500973 (ELSEVIER)S0198-8859(19)30150-8 DE-627 ger DE-627 rda eng 610 DE-600 44.45 bkl Montero-Martín, Gonzalo verfasserin aut High-resolution characterization of allelic and haplotypic HLA frequency distribution in a Spanish population using high-throughput next-generation sequencing 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Next-generation sequencing (NGS) at the HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, -DRB1 and -DRB3/4/5 loci was performed on 282 healthy unrelated individuals from different major regions of Spain. High-resolution HLA genotypes defined by full sequencing of class I loci and extended coverage of class II loci were obtained to determine allele frequencies and also to estimate extended haplotype frequencies. HLA alleles were typed at the highest resolution level (4-field level, 4FL); with exception of a minor deviation in HLA-DPA1, no statistically significant deviations from expected Hardy Weinberg Equilibrium (HWE) proportions were observed for all other HLA loci. This study provides new 4FL-allele and -haplotype frequencies estimated for the first time in the Spanish population. Furthermore, our results describe extended haplotypes (including the less frequently typed HLA-DPA1 and HLA-DQA1 loci) and show distinctive haplotype associations found at 4FL-allele definition in this Spanish population study. The distinctive allelic and haplotypic diversity found at the 4FL reveals the high level of heterozygosity and specific haplotypic associations displayed that were not apparent at 2-field level (2FL). Overall, these results may contribute as a useful reference source for future population studies, for HLA-disease association studies as a healthy control group dataset and for improving donor recruitment strategies of bone marrow registries. HLA genotyping data of this Spanish population cohort was also included in the 17th International Histocompatibility and Immunogenetics Workshop (IHIW) as part of the study of HLA diversity in unrelated worldwide populations using NGS. Human Leukocyte Antigen (HLA) Next-Generation Sequencing (NGS) Population study Spain Mallempati, Kalyan C. verfasserin aut Gangavarapu, Sridevi verfasserin aut Sánchez-Gordo, Francisco verfasserin aut Herrero-Mata, Maria J. verfasserin aut Balas, Antonio verfasserin aut Vicario, Jose L. verfasserin aut Sánchez-García, Florentino verfasserin aut González-Escribano, Maria F. verfasserin aut Muro, Manuel verfasserin aut Moya-Quiles, Maria R. verfasserin aut González-Fernández, Rafael verfasserin aut Ocejo-Vinyals, Javier G. verfasserin aut Marín, Luis verfasserin aut Creary, Lisa E. verfasserin aut Osoegawa, Kazutoyo verfasserin aut Vayntrub, Tamara verfasserin aut Caro-Oleas, Jose L. verfasserin aut Vilches, Carlos verfasserin aut Planelles, Dolores verfasserin (orcid)0000-0003-2245-4639 aut Fernández-Viña, Marcelo A. verfasserin aut Enthalten in Human immunology Amsterdam [u.a.] : Elsevier Science, 1980 80, Seite 429-436 Online-Ressource (DE-627)320454479 (DE-600)2006465-2 (DE-576)094477019 1879-1166 nnns volume:80 pages:429-436 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA 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_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_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 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_2336 GBV_ILN_2507 GBV_ILN_2522 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_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.45 Immunologie AR 80 429-436 |
| spelling |
10.1016/j.humimm.2019.02.005 doi (DE-627)ELV002500973 (ELSEVIER)S0198-8859(19)30150-8 DE-627 ger DE-627 rda eng 610 DE-600 44.45 bkl Montero-Martín, Gonzalo verfasserin aut High-resolution characterization of allelic and haplotypic HLA frequency distribution in a Spanish population using high-throughput next-generation sequencing 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Next-generation sequencing (NGS) at the HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, -DRB1 and -DRB3/4/5 loci was performed on 282 healthy unrelated individuals from different major regions of Spain. High-resolution HLA genotypes defined by full sequencing of class I loci and extended coverage of class II loci were obtained to determine allele frequencies and also to estimate extended haplotype frequencies. HLA alleles were typed at the highest resolution level (4-field level, 4FL); with exception of a minor deviation in HLA-DPA1, no statistically significant deviations from expected Hardy Weinberg Equilibrium (HWE) proportions were observed for all other HLA loci. This study provides new 4FL-allele and -haplotype frequencies estimated for the first time in the Spanish population. Furthermore, our results describe extended haplotypes (including the less frequently typed HLA-DPA1 and HLA-DQA1 loci) and show distinctive haplotype associations found at 4FL-allele definition in this Spanish population study. The distinctive allelic and haplotypic diversity found at the 4FL reveals the high level of heterozygosity and specific haplotypic associations displayed that were not apparent at 2-field level (2FL). Overall, these results may contribute as a useful reference source for future population studies, for HLA-disease association studies as a healthy control group dataset and for improving donor recruitment strategies of bone marrow registries. HLA genotyping data of this Spanish population cohort was also included in the 17th International Histocompatibility and Immunogenetics Workshop (IHIW) as part of the study of HLA diversity in unrelated worldwide populations using NGS. Human Leukocyte Antigen (HLA) Next-Generation Sequencing (NGS) Population study Spain Mallempati, Kalyan C. verfasserin aut Gangavarapu, Sridevi verfasserin aut Sánchez-Gordo, Francisco verfasserin aut Herrero-Mata, Maria J. verfasserin aut Balas, Antonio verfasserin aut Vicario, Jose L. verfasserin aut Sánchez-García, Florentino verfasserin aut González-Escribano, Maria F. verfasserin aut Muro, Manuel verfasserin aut Moya-Quiles, Maria R. verfasserin aut González-Fernández, Rafael verfasserin aut Ocejo-Vinyals, Javier G. verfasserin aut Marín, Luis verfasserin aut Creary, Lisa E. verfasserin aut Osoegawa, Kazutoyo verfasserin aut Vayntrub, Tamara verfasserin aut Caro-Oleas, Jose L. verfasserin aut Vilches, Carlos verfasserin aut Planelles, Dolores verfasserin (orcid)0000-0003-2245-4639 aut Fernández-Viña, Marcelo A. verfasserin aut Enthalten in Human immunology Amsterdam [u.a.] : Elsevier Science, 1980 80, Seite 429-436 Online-Ressource (DE-627)320454479 (DE-600)2006465-2 (DE-576)094477019 1879-1166 nnns volume:80 pages:429-436 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA 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_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_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 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_2336 GBV_ILN_2507 GBV_ILN_2522 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_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.45 Immunologie AR 80 429-436 |
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10.1016/j.humimm.2019.02.005 doi (DE-627)ELV002500973 (ELSEVIER)S0198-8859(19)30150-8 DE-627 ger DE-627 rda eng 610 DE-600 44.45 bkl Montero-Martín, Gonzalo verfasserin aut High-resolution characterization of allelic and haplotypic HLA frequency distribution in a Spanish population using high-throughput next-generation sequencing 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Next-generation sequencing (NGS) at the HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, -DRB1 and -DRB3/4/5 loci was performed on 282 healthy unrelated individuals from different major regions of Spain. High-resolution HLA genotypes defined by full sequencing of class I loci and extended coverage of class II loci were obtained to determine allele frequencies and also to estimate extended haplotype frequencies. HLA alleles were typed at the highest resolution level (4-field level, 4FL); with exception of a minor deviation in HLA-DPA1, no statistically significant deviations from expected Hardy Weinberg Equilibrium (HWE) proportions were observed for all other HLA loci. This study provides new 4FL-allele and -haplotype frequencies estimated for the first time in the Spanish population. Furthermore, our results describe extended haplotypes (including the less frequently typed HLA-DPA1 and HLA-DQA1 loci) and show distinctive haplotype associations found at 4FL-allele definition in this Spanish population study. The distinctive allelic and haplotypic diversity found at the 4FL reveals the high level of heterozygosity and specific haplotypic associations displayed that were not apparent at 2-field level (2FL). Overall, these results may contribute as a useful reference source for future population studies, for HLA-disease association studies as a healthy control group dataset and for improving donor recruitment strategies of bone marrow registries. HLA genotyping data of this Spanish population cohort was also included in the 17th International Histocompatibility and Immunogenetics Workshop (IHIW) as part of the study of HLA diversity in unrelated worldwide populations using NGS. Human Leukocyte Antigen (HLA) Next-Generation Sequencing (NGS) Population study Spain Mallempati, Kalyan C. verfasserin aut Gangavarapu, Sridevi verfasserin aut Sánchez-Gordo, Francisco verfasserin aut Herrero-Mata, Maria J. verfasserin aut Balas, Antonio verfasserin aut Vicario, Jose L. verfasserin aut Sánchez-García, Florentino verfasserin aut González-Escribano, Maria F. verfasserin aut Muro, Manuel verfasserin aut Moya-Quiles, Maria R. verfasserin aut González-Fernández, Rafael verfasserin aut Ocejo-Vinyals, Javier G. verfasserin aut Marín, Luis verfasserin aut Creary, Lisa E. verfasserin aut Osoegawa, Kazutoyo verfasserin aut Vayntrub, Tamara verfasserin aut Caro-Oleas, Jose L. verfasserin aut Vilches, Carlos verfasserin aut Planelles, Dolores verfasserin (orcid)0000-0003-2245-4639 aut Fernández-Viña, Marcelo A. verfasserin aut Enthalten in Human immunology Amsterdam [u.a.] : Elsevier Science, 1980 80, Seite 429-436 Online-Ressource (DE-627)320454479 (DE-600)2006465-2 (DE-576)094477019 1879-1166 nnns volume:80 pages:429-436 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA 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_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_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 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_2336 GBV_ILN_2507 GBV_ILN_2522 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_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.45 Immunologie AR 80 429-436 |
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10.1016/j.humimm.2019.02.005 doi (DE-627)ELV002500973 (ELSEVIER)S0198-8859(19)30150-8 DE-627 ger DE-627 rda eng 610 DE-600 44.45 bkl Montero-Martín, Gonzalo verfasserin aut High-resolution characterization of allelic and haplotypic HLA frequency distribution in a Spanish population using high-throughput next-generation sequencing 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Next-generation sequencing (NGS) at the HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, -DRB1 and -DRB3/4/5 loci was performed on 282 healthy unrelated individuals from different major regions of Spain. High-resolution HLA genotypes defined by full sequencing of class I loci and extended coverage of class II loci were obtained to determine allele frequencies and also to estimate extended haplotype frequencies. HLA alleles were typed at the highest resolution level (4-field level, 4FL); with exception of a minor deviation in HLA-DPA1, no statistically significant deviations from expected Hardy Weinberg Equilibrium (HWE) proportions were observed for all other HLA loci. This study provides new 4FL-allele and -haplotype frequencies estimated for the first time in the Spanish population. Furthermore, our results describe extended haplotypes (including the less frequently typed HLA-DPA1 and HLA-DQA1 loci) and show distinctive haplotype associations found at 4FL-allele definition in this Spanish population study. The distinctive allelic and haplotypic diversity found at the 4FL reveals the high level of heterozygosity and specific haplotypic associations displayed that were not apparent at 2-field level (2FL). Overall, these results may contribute as a useful reference source for future population studies, for HLA-disease association studies as a healthy control group dataset and for improving donor recruitment strategies of bone marrow registries. HLA genotyping data of this Spanish population cohort was also included in the 17th International Histocompatibility and Immunogenetics Workshop (IHIW) as part of the study of HLA diversity in unrelated worldwide populations using NGS. Human Leukocyte Antigen (HLA) Next-Generation Sequencing (NGS) Population study Spain Mallempati, Kalyan C. verfasserin aut Gangavarapu, Sridevi verfasserin aut Sánchez-Gordo, Francisco verfasserin aut Herrero-Mata, Maria J. verfasserin aut Balas, Antonio verfasserin aut Vicario, Jose L. verfasserin aut Sánchez-García, Florentino verfasserin aut González-Escribano, Maria F. verfasserin aut Muro, Manuel verfasserin aut Moya-Quiles, Maria R. verfasserin aut González-Fernández, Rafael verfasserin aut Ocejo-Vinyals, Javier G. verfasserin aut Marín, Luis verfasserin aut Creary, Lisa E. verfasserin aut Osoegawa, Kazutoyo verfasserin aut Vayntrub, Tamara verfasserin aut Caro-Oleas, Jose L. verfasserin aut Vilches, Carlos verfasserin aut Planelles, Dolores verfasserin (orcid)0000-0003-2245-4639 aut Fernández-Viña, Marcelo A. verfasserin aut Enthalten in Human immunology Amsterdam [u.a.] : Elsevier Science, 1980 80, Seite 429-436 Online-Ressource (DE-627)320454479 (DE-600)2006465-2 (DE-576)094477019 1879-1166 nnns volume:80 pages:429-436 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA 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_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_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 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_2336 GBV_ILN_2507 GBV_ILN_2522 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_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.45 Immunologie AR 80 429-436 |
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10.1016/j.humimm.2019.02.005 doi (DE-627)ELV002500973 (ELSEVIER)S0198-8859(19)30150-8 DE-627 ger DE-627 rda eng 610 DE-600 44.45 bkl Montero-Martín, Gonzalo verfasserin aut High-resolution characterization of allelic and haplotypic HLA frequency distribution in a Spanish population using high-throughput next-generation sequencing 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Next-generation sequencing (NGS) at the HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, -DRB1 and -DRB3/4/5 loci was performed on 282 healthy unrelated individuals from different major regions of Spain. High-resolution HLA genotypes defined by full sequencing of class I loci and extended coverage of class II loci were obtained to determine allele frequencies and also to estimate extended haplotype frequencies. HLA alleles were typed at the highest resolution level (4-field level, 4FL); with exception of a minor deviation in HLA-DPA1, no statistically significant deviations from expected Hardy Weinberg Equilibrium (HWE) proportions were observed for all other HLA loci. This study provides new 4FL-allele and -haplotype frequencies estimated for the first time in the Spanish population. Furthermore, our results describe extended haplotypes (including the less frequently typed HLA-DPA1 and HLA-DQA1 loci) and show distinctive haplotype associations found at 4FL-allele definition in this Spanish population study. The distinctive allelic and haplotypic diversity found at the 4FL reveals the high level of heterozygosity and specific haplotypic associations displayed that were not apparent at 2-field level (2FL). Overall, these results may contribute as a useful reference source for future population studies, for HLA-disease association studies as a healthy control group dataset and for improving donor recruitment strategies of bone marrow registries. HLA genotyping data of this Spanish population cohort was also included in the 17th International Histocompatibility and Immunogenetics Workshop (IHIW) as part of the study of HLA diversity in unrelated worldwide populations using NGS. Human Leukocyte Antigen (HLA) Next-Generation Sequencing (NGS) Population study Spain Mallempati, Kalyan C. verfasserin aut Gangavarapu, Sridevi verfasserin aut Sánchez-Gordo, Francisco verfasserin aut Herrero-Mata, Maria J. verfasserin aut Balas, Antonio verfasserin aut Vicario, Jose L. verfasserin aut Sánchez-García, Florentino verfasserin aut González-Escribano, Maria F. verfasserin aut Muro, Manuel verfasserin aut Moya-Quiles, Maria R. verfasserin aut González-Fernández, Rafael verfasserin aut Ocejo-Vinyals, Javier G. verfasserin aut Marín, Luis verfasserin aut Creary, Lisa E. verfasserin aut Osoegawa, Kazutoyo verfasserin aut Vayntrub, Tamara verfasserin aut Caro-Oleas, Jose L. verfasserin aut Vilches, Carlos verfasserin aut Planelles, Dolores verfasserin (orcid)0000-0003-2245-4639 aut Fernández-Viña, Marcelo A. verfasserin aut Enthalten in Human immunology Amsterdam [u.a.] : Elsevier Science, 1980 80, Seite 429-436 Online-Ressource (DE-627)320454479 (DE-600)2006465-2 (DE-576)094477019 1879-1166 nnns volume:80 pages:429-436 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA 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_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_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 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_2336 GBV_ILN_2507 GBV_ILN_2522 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_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.45 Immunologie AR 80 429-436 |
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Enthalten in Human immunology 80, Seite 429-436 volume:80 pages:429-436 |
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Montero-Martín, Gonzalo @@aut@@ Mallempati, Kalyan C. @@aut@@ Gangavarapu, Sridevi @@aut@@ Sánchez-Gordo, Francisco @@aut@@ Herrero-Mata, Maria J. @@aut@@ Balas, Antonio @@aut@@ Vicario, Jose L. @@aut@@ Sánchez-García, Florentino @@aut@@ González-Escribano, Maria F. @@aut@@ Muro, Manuel @@aut@@ Moya-Quiles, Maria R. @@aut@@ González-Fernández, Rafael @@aut@@ Ocejo-Vinyals, Javier G. @@aut@@ Marín, Luis @@aut@@ Creary, Lisa E. @@aut@@ Osoegawa, Kazutoyo @@aut@@ Vayntrub, Tamara @@aut@@ Caro-Oleas, Jose L. @@aut@@ Vilches, Carlos @@aut@@ Planelles, Dolores @@aut@@ Fernández-Viña, Marcelo A. @@aut@@ |
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2019-01-01T00:00:00Z |
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Montero-Martín, Gonzalo |
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Montero-Martín, Gonzalo ddc 610 bkl 44.45 misc Human Leukocyte Antigen (HLA) misc Next-Generation Sequencing (NGS) misc Population study misc Spain High-resolution characterization of allelic and haplotypic HLA frequency distribution in a Spanish population using high-throughput next-generation sequencing |
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610 DE-600 44.45 bkl High-resolution characterization of allelic and haplotypic HLA frequency distribution in a Spanish population using high-throughput next-generation sequencing Human Leukocyte Antigen (HLA) Next-Generation Sequencing (NGS) Population study Spain |
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ddc 610 bkl 44.45 misc Human Leukocyte Antigen (HLA) misc Next-Generation Sequencing (NGS) misc Population study misc Spain |
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High-resolution characterization of allelic and haplotypic HLA frequency distribution in a Spanish population using high-throughput next-generation sequencing |
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High-resolution characterization of allelic and haplotypic HLA frequency distribution in a Spanish population using high-throughput next-generation sequencing |
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Montero-Martín, Gonzalo Mallempati, Kalyan C. Gangavarapu, Sridevi Sánchez-Gordo, Francisco Herrero-Mata, Maria J. Balas, Antonio Vicario, Jose L. Sánchez-García, Florentino González-Escribano, Maria F. Muro, Manuel Moya-Quiles, Maria R. González-Fernández, Rafael Ocejo-Vinyals, Javier G. Marín, Luis Creary, Lisa E. Osoegawa, Kazutoyo Vayntrub, Tamara Caro-Oleas, Jose L. Vilches, Carlos Planelles, Dolores Fernández-Viña, Marcelo A. |
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high-resolution characterization of allelic and haplotypic hla frequency distribution in a spanish population using high-throughput next-generation sequencing |
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High-resolution characterization of allelic and haplotypic HLA frequency distribution in a Spanish population using high-throughput next-generation sequencing |
| abstract |
Next-generation sequencing (NGS) at the HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, -DRB1 and -DRB3/4/5 loci was performed on 282 healthy unrelated individuals from different major regions of Spain. High-resolution HLA genotypes defined by full sequencing of class I loci and extended coverage of class II loci were obtained to determine allele frequencies and also to estimate extended haplotype frequencies. HLA alleles were typed at the highest resolution level (4-field level, 4FL); with exception of a minor deviation in HLA-DPA1, no statistically significant deviations from expected Hardy Weinberg Equilibrium (HWE) proportions were observed for all other HLA loci. This study provides new 4FL-allele and -haplotype frequencies estimated for the first time in the Spanish population. Furthermore, our results describe extended haplotypes (including the less frequently typed HLA-DPA1 and HLA-DQA1 loci) and show distinctive haplotype associations found at 4FL-allele definition in this Spanish population study. The distinctive allelic and haplotypic diversity found at the 4FL reveals the high level of heterozygosity and specific haplotypic associations displayed that were not apparent at 2-field level (2FL). Overall, these results may contribute as a useful reference source for future population studies, for HLA-disease association studies as a healthy control group dataset and for improving donor recruitment strategies of bone marrow registries. HLA genotyping data of this Spanish population cohort was also included in the 17th International Histocompatibility and Immunogenetics Workshop (IHIW) as part of the study of HLA diversity in unrelated worldwide populations using NGS. |
| abstractGer |
Next-generation sequencing (NGS) at the HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, -DRB1 and -DRB3/4/5 loci was performed on 282 healthy unrelated individuals from different major regions of Spain. High-resolution HLA genotypes defined by full sequencing of class I loci and extended coverage of class II loci were obtained to determine allele frequencies and also to estimate extended haplotype frequencies. HLA alleles were typed at the highest resolution level (4-field level, 4FL); with exception of a minor deviation in HLA-DPA1, no statistically significant deviations from expected Hardy Weinberg Equilibrium (HWE) proportions were observed for all other HLA loci. This study provides new 4FL-allele and -haplotype frequencies estimated for the first time in the Spanish population. Furthermore, our results describe extended haplotypes (including the less frequently typed HLA-DPA1 and HLA-DQA1 loci) and show distinctive haplotype associations found at 4FL-allele definition in this Spanish population study. The distinctive allelic and haplotypic diversity found at the 4FL reveals the high level of heterozygosity and specific haplotypic associations displayed that were not apparent at 2-field level (2FL). Overall, these results may contribute as a useful reference source for future population studies, for HLA-disease association studies as a healthy control group dataset and for improving donor recruitment strategies of bone marrow registries. HLA genotyping data of this Spanish population cohort was also included in the 17th International Histocompatibility and Immunogenetics Workshop (IHIW) as part of the study of HLA diversity in unrelated worldwide populations using NGS. |
| abstract_unstemmed |
Next-generation sequencing (NGS) at the HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, -DRB1 and -DRB3/4/5 loci was performed on 282 healthy unrelated individuals from different major regions of Spain. High-resolution HLA genotypes defined by full sequencing of class I loci and extended coverage of class II loci were obtained to determine allele frequencies and also to estimate extended haplotype frequencies. HLA alleles were typed at the highest resolution level (4-field level, 4FL); with exception of a minor deviation in HLA-DPA1, no statistically significant deviations from expected Hardy Weinberg Equilibrium (HWE) proportions were observed for all other HLA loci. This study provides new 4FL-allele and -haplotype frequencies estimated for the first time in the Spanish population. Furthermore, our results describe extended haplotypes (including the less frequently typed HLA-DPA1 and HLA-DQA1 loci) and show distinctive haplotype associations found at 4FL-allele definition in this Spanish population study. The distinctive allelic and haplotypic diversity found at the 4FL reveals the high level of heterozygosity and specific haplotypic associations displayed that were not apparent at 2-field level (2FL). Overall, these results may contribute as a useful reference source for future population studies, for HLA-disease association studies as a healthy control group dataset and for improving donor recruitment strategies of bone marrow registries. HLA genotyping data of this Spanish population cohort was also included in the 17th International Histocompatibility and Immunogenetics Workshop (IHIW) as part of the study of HLA diversity in unrelated worldwide populations using NGS. |
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High-resolution characterization of allelic and haplotypic HLA frequency distribution in a Spanish population using high-throughput next-generation sequencing |
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Mallempati, Kalyan C. Gangavarapu, Sridevi Sánchez-Gordo, Francisco Herrero-Mata, Maria J. Balas, Antonio Vicario, Jose L. Sánchez-García, Florentino González-Escribano, Maria F. Muro, Manuel Moya-Quiles, Maria R. González-Fernández, Rafael Ocejo-Vinyals, Javier G. Marín, Luis Creary, Lisa E. Osoegawa, Kazutoyo Vayntrub, Tamara Caro-Oleas, Jose L. Vilches, Carlos Planelles, Dolores Fernández-Viña, Marcelo A. |
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