Novel caries loci in children and adults implicated by genome-wide analysis of families
Abstract Background Dental caries is a common chronic disease among children and adults alike, posing a substantial health burden. Caries is affected by multiple genetic and environmental factors, and prior studies have found that a substantial proportion of caries susceptibility is genetically inhe...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Manika Govil [verfasserIn] Nandita Mukhopadhyay [verfasserIn] Daniel E. Weeks [verfasserIn] Eleanor Feingold [verfasserIn] John R. Shaffer [verfasserIn] Steven M. Levy [verfasserIn] Alexandre R. Vieira [verfasserIn] Rebecca L. Slayton [verfasserIn] Daniel W. McNeil [verfasserIn] Robert J. Weyant [verfasserIn] Richard J. Crout [verfasserIn] Mary L. Marazita [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2018 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
In: BMC Oral Health - BMC, 2003, 18(2018), 1, Seite 12 |
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| Übergeordnetes Werk: |
volume:18 ; year:2018 ; number:1 ; pages:12 |
| Links: |
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| DOI / URN: |
10.1186/s12903-018-0559-6 |
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| Katalog-ID: |
DOAJ004946804 |
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| 520 | |a Abstract Background Dental caries is a common chronic disease among children and adults alike, posing a substantial health burden. Caries is affected by multiple genetic and environmental factors, and prior studies have found that a substantial proportion of caries susceptibility is genetically inherited. Methods To identify such genetic factors, we conducted a genome-wide linkage scan in 464 extended families with 2616 individuals from Iowa, Pennsylvania and West Virginia for three dental caries phenotypes: (1) PRIM: dichotomized as zero versus one or more affected primary teeth, (2) QTOT1: age-adjusted quantitative caries measure for both primary and permanent dentitions including pre-cavitated lesions, and (3) QTOT2: age-adjusted quantitative caries excluding pre-cavitated lesions. Genotyping was conducted for approximately 600,000 SNPs on an Illumina platform, pruned to 127,511 uncorrelated SNPs for the analyses reported here. Results Multipoint non-parametric linkage analyses generated peak LOD scores exceeding 2.0 for eight genomic regions, but no LOD scores above 3.0 were observed. The maximum LOD score for each of the three traits was 2.90 at 1q25.3 for PRIM, 2.38 at 6q25.3 for QTOT1, and 2.76 at 5q23.3 for QTOT2. Some overlap in linkage regions was observed among the phenotypes. Genes with a potential role in dental caries in the eight chromosomal regions include CACNA1E, LAMC2, ALMS1, STAMBP, GXYLT2, SLC12A2, MEGF10, TMEM181, ARID1B, and, as well as genes in several immune gene families. Our results are also concordant with previous findings from association analyses on chromosomes 11 and 19. Conclusions These multipoint linkage results provide evidence in favor of novel chromosomal regions, while also supporting earlier association findings for these data. Understanding the genetic etiology of dental caries will allow designing personalized treatment plans based on an individual’s genetic risk of disease. | ||
| 650 | 4 | |a Dental genetics | |
| 650 | 4 | |a Dental public health | |
| 650 | 4 | |a Permanent dentition caries | |
| 650 | 4 | |a Primary dentition caries | |
| 650 | 4 | |a Non-parametric linkage | |
| 650 | 4 | |a Genome-wide linkage study | |
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| 700 | 0 | |a Daniel E. Weeks |e verfasserin |4 aut | |
| 700 | 0 | |a Eleanor Feingold |e verfasserin |4 aut | |
| 700 | 0 | |a John R. Shaffer |e verfasserin |4 aut | |
| 700 | 0 | |a Steven M. Levy |e verfasserin |4 aut | |
| 700 | 0 | |a Alexandre R. Vieira |e verfasserin |4 aut | |
| 700 | 0 | |a Rebecca L. Slayton |e verfasserin |4 aut | |
| 700 | 0 | |a Daniel W. McNeil |e verfasserin |4 aut | |
| 700 | 0 | |a Robert J. Weyant |e verfasserin |4 aut | |
| 700 | 0 | |a Richard J. Crout |e verfasserin |4 aut | |
| 700 | 0 | |a Mary L. Marazita |e verfasserin |4 aut | |
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10.1186/s12903-018-0559-6 doi (DE-627)DOAJ004946804 (DE-599)DOAJ1761b7fca25340e1879e6c060d23f3e0 DE-627 ger DE-627 rakwb eng RK1-715 Manika Govil verfasserin aut Novel caries loci in children and adults implicated by genome-wide analysis of families 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Dental caries is a common chronic disease among children and adults alike, posing a substantial health burden. Caries is affected by multiple genetic and environmental factors, and prior studies have found that a substantial proportion of caries susceptibility is genetically inherited. Methods To identify such genetic factors, we conducted a genome-wide linkage scan in 464 extended families with 2616 individuals from Iowa, Pennsylvania and West Virginia for three dental caries phenotypes: (1) PRIM: dichotomized as zero versus one or more affected primary teeth, (2) QTOT1: age-adjusted quantitative caries measure for both primary and permanent dentitions including pre-cavitated lesions, and (3) QTOT2: age-adjusted quantitative caries excluding pre-cavitated lesions. Genotyping was conducted for approximately 600,000 SNPs on an Illumina platform, pruned to 127,511 uncorrelated SNPs for the analyses reported here. Results Multipoint non-parametric linkage analyses generated peak LOD scores exceeding 2.0 for eight genomic regions, but no LOD scores above 3.0 were observed. The maximum LOD score for each of the three traits was 2.90 at 1q25.3 for PRIM, 2.38 at 6q25.3 for QTOT1, and 2.76 at 5q23.3 for QTOT2. Some overlap in linkage regions was observed among the phenotypes. Genes with a potential role in dental caries in the eight chromosomal regions include CACNA1E, LAMC2, ALMS1, STAMBP, GXYLT2, SLC12A2, MEGF10, TMEM181, ARID1B, and, as well as genes in several immune gene families. Our results are also concordant with previous findings from association analyses on chromosomes 11 and 19. Conclusions These multipoint linkage results provide evidence in favor of novel chromosomal regions, while also supporting earlier association findings for these data. Understanding the genetic etiology of dental caries will allow designing personalized treatment plans based on an individual’s genetic risk of disease. Dental genetics Dental public health Permanent dentition caries Primary dentition caries Non-parametric linkage Genome-wide linkage study Dentistry Nandita Mukhopadhyay verfasserin aut Daniel E. Weeks verfasserin aut Eleanor Feingold verfasserin aut John R. Shaffer verfasserin aut Steven M. Levy verfasserin aut Alexandre R. Vieira verfasserin aut Rebecca L. Slayton verfasserin aut Daniel W. McNeil verfasserin aut Robert J. Weyant verfasserin aut Richard J. Crout verfasserin aut Mary L. Marazita verfasserin aut In BMC Oral Health BMC, 2003 18(2018), 1, Seite 12 (DE-627)355500108 (DE-600)2091511-1 14726831 nnns volume:18 year:2018 number:1 pages:12 https://doi.org/10.1186/s12903-018-0559-6 kostenfrei https://doaj.org/article/1761b7fca25340e1879e6c060d23f3e0 kostenfrei http://link.springer.com/article/10.1186/s12903-018-0559-6 kostenfrei https://doaj.org/toc/1472-6831 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 18 2018 1 12 |
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10.1186/s12903-018-0559-6 doi (DE-627)DOAJ004946804 (DE-599)DOAJ1761b7fca25340e1879e6c060d23f3e0 DE-627 ger DE-627 rakwb eng RK1-715 Manika Govil verfasserin aut Novel caries loci in children and adults implicated by genome-wide analysis of families 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Dental caries is a common chronic disease among children and adults alike, posing a substantial health burden. Caries is affected by multiple genetic and environmental factors, and prior studies have found that a substantial proportion of caries susceptibility is genetically inherited. Methods To identify such genetic factors, we conducted a genome-wide linkage scan in 464 extended families with 2616 individuals from Iowa, Pennsylvania and West Virginia for three dental caries phenotypes: (1) PRIM: dichotomized as zero versus one or more affected primary teeth, (2) QTOT1: age-adjusted quantitative caries measure for both primary and permanent dentitions including pre-cavitated lesions, and (3) QTOT2: age-adjusted quantitative caries excluding pre-cavitated lesions. Genotyping was conducted for approximately 600,000 SNPs on an Illumina platform, pruned to 127,511 uncorrelated SNPs for the analyses reported here. Results Multipoint non-parametric linkage analyses generated peak LOD scores exceeding 2.0 for eight genomic regions, but no LOD scores above 3.0 were observed. The maximum LOD score for each of the three traits was 2.90 at 1q25.3 for PRIM, 2.38 at 6q25.3 for QTOT1, and 2.76 at 5q23.3 for QTOT2. Some overlap in linkage regions was observed among the phenotypes. Genes with a potential role in dental caries in the eight chromosomal regions include CACNA1E, LAMC2, ALMS1, STAMBP, GXYLT2, SLC12A2, MEGF10, TMEM181, ARID1B, and, as well as genes in several immune gene families. Our results are also concordant with previous findings from association analyses on chromosomes 11 and 19. Conclusions These multipoint linkage results provide evidence in favor of novel chromosomal regions, while also supporting earlier association findings for these data. Understanding the genetic etiology of dental caries will allow designing personalized treatment plans based on an individual’s genetic risk of disease. Dental genetics Dental public health Permanent dentition caries Primary dentition caries Non-parametric linkage Genome-wide linkage study Dentistry Nandita Mukhopadhyay verfasserin aut Daniel E. Weeks verfasserin aut Eleanor Feingold verfasserin aut John R. Shaffer verfasserin aut Steven M. Levy verfasserin aut Alexandre R. Vieira verfasserin aut Rebecca L. Slayton verfasserin aut Daniel W. McNeil verfasserin aut Robert J. Weyant verfasserin aut Richard J. Crout verfasserin aut Mary L. Marazita verfasserin aut In BMC Oral Health BMC, 2003 18(2018), 1, Seite 12 (DE-627)355500108 (DE-600)2091511-1 14726831 nnns volume:18 year:2018 number:1 pages:12 https://doi.org/10.1186/s12903-018-0559-6 kostenfrei https://doaj.org/article/1761b7fca25340e1879e6c060d23f3e0 kostenfrei http://link.springer.com/article/10.1186/s12903-018-0559-6 kostenfrei https://doaj.org/toc/1472-6831 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 18 2018 1 12 |
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10.1186/s12903-018-0559-6 doi (DE-627)DOAJ004946804 (DE-599)DOAJ1761b7fca25340e1879e6c060d23f3e0 DE-627 ger DE-627 rakwb eng RK1-715 Manika Govil verfasserin aut Novel caries loci in children and adults implicated by genome-wide analysis of families 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Dental caries is a common chronic disease among children and adults alike, posing a substantial health burden. Caries is affected by multiple genetic and environmental factors, and prior studies have found that a substantial proportion of caries susceptibility is genetically inherited. Methods To identify such genetic factors, we conducted a genome-wide linkage scan in 464 extended families with 2616 individuals from Iowa, Pennsylvania and West Virginia for three dental caries phenotypes: (1) PRIM: dichotomized as zero versus one or more affected primary teeth, (2) QTOT1: age-adjusted quantitative caries measure for both primary and permanent dentitions including pre-cavitated lesions, and (3) QTOT2: age-adjusted quantitative caries excluding pre-cavitated lesions. Genotyping was conducted for approximately 600,000 SNPs on an Illumina platform, pruned to 127,511 uncorrelated SNPs for the analyses reported here. Results Multipoint non-parametric linkage analyses generated peak LOD scores exceeding 2.0 for eight genomic regions, but no LOD scores above 3.0 were observed. The maximum LOD score for each of the three traits was 2.90 at 1q25.3 for PRIM, 2.38 at 6q25.3 for QTOT1, and 2.76 at 5q23.3 for QTOT2. Some overlap in linkage regions was observed among the phenotypes. Genes with a potential role in dental caries in the eight chromosomal regions include CACNA1E, LAMC2, ALMS1, STAMBP, GXYLT2, SLC12A2, MEGF10, TMEM181, ARID1B, and, as well as genes in several immune gene families. Our results are also concordant with previous findings from association analyses on chromosomes 11 and 19. Conclusions These multipoint linkage results provide evidence in favor of novel chromosomal regions, while also supporting earlier association findings for these data. Understanding the genetic etiology of dental caries will allow designing personalized treatment plans based on an individual’s genetic risk of disease. Dental genetics Dental public health Permanent dentition caries Primary dentition caries Non-parametric linkage Genome-wide linkage study Dentistry Nandita Mukhopadhyay verfasserin aut Daniel E. Weeks verfasserin aut Eleanor Feingold verfasserin aut John R. Shaffer verfasserin aut Steven M. Levy verfasserin aut Alexandre R. Vieira verfasserin aut Rebecca L. Slayton verfasserin aut Daniel W. McNeil verfasserin aut Robert J. Weyant verfasserin aut Richard J. Crout verfasserin aut Mary L. Marazita verfasserin aut In BMC Oral Health BMC, 2003 18(2018), 1, Seite 12 (DE-627)355500108 (DE-600)2091511-1 14726831 nnns volume:18 year:2018 number:1 pages:12 https://doi.org/10.1186/s12903-018-0559-6 kostenfrei https://doaj.org/article/1761b7fca25340e1879e6c060d23f3e0 kostenfrei http://link.springer.com/article/10.1186/s12903-018-0559-6 kostenfrei https://doaj.org/toc/1472-6831 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 18 2018 1 12 |
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10.1186/s12903-018-0559-6 doi (DE-627)DOAJ004946804 (DE-599)DOAJ1761b7fca25340e1879e6c060d23f3e0 DE-627 ger DE-627 rakwb eng RK1-715 Manika Govil verfasserin aut Novel caries loci in children and adults implicated by genome-wide analysis of families 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Dental caries is a common chronic disease among children and adults alike, posing a substantial health burden. Caries is affected by multiple genetic and environmental factors, and prior studies have found that a substantial proportion of caries susceptibility is genetically inherited. Methods To identify such genetic factors, we conducted a genome-wide linkage scan in 464 extended families with 2616 individuals from Iowa, Pennsylvania and West Virginia for three dental caries phenotypes: (1) PRIM: dichotomized as zero versus one or more affected primary teeth, (2) QTOT1: age-adjusted quantitative caries measure for both primary and permanent dentitions including pre-cavitated lesions, and (3) QTOT2: age-adjusted quantitative caries excluding pre-cavitated lesions. Genotyping was conducted for approximately 600,000 SNPs on an Illumina platform, pruned to 127,511 uncorrelated SNPs for the analyses reported here. Results Multipoint non-parametric linkage analyses generated peak LOD scores exceeding 2.0 for eight genomic regions, but no LOD scores above 3.0 were observed. The maximum LOD score for each of the three traits was 2.90 at 1q25.3 for PRIM, 2.38 at 6q25.3 for QTOT1, and 2.76 at 5q23.3 for QTOT2. Some overlap in linkage regions was observed among the phenotypes. Genes with a potential role in dental caries in the eight chromosomal regions include CACNA1E, LAMC2, ALMS1, STAMBP, GXYLT2, SLC12A2, MEGF10, TMEM181, ARID1B, and, as well as genes in several immune gene families. Our results are also concordant with previous findings from association analyses on chromosomes 11 and 19. Conclusions These multipoint linkage results provide evidence in favor of novel chromosomal regions, while also supporting earlier association findings for these data. Understanding the genetic etiology of dental caries will allow designing personalized treatment plans based on an individual’s genetic risk of disease. Dental genetics Dental public health Permanent dentition caries Primary dentition caries Non-parametric linkage Genome-wide linkage study Dentistry Nandita Mukhopadhyay verfasserin aut Daniel E. Weeks verfasserin aut Eleanor Feingold verfasserin aut John R. Shaffer verfasserin aut Steven M. Levy verfasserin aut Alexandre R. Vieira verfasserin aut Rebecca L. Slayton verfasserin aut Daniel W. McNeil verfasserin aut Robert J. Weyant verfasserin aut Richard J. Crout verfasserin aut Mary L. Marazita verfasserin aut In BMC Oral Health BMC, 2003 18(2018), 1, Seite 12 (DE-627)355500108 (DE-600)2091511-1 14726831 nnns volume:18 year:2018 number:1 pages:12 https://doi.org/10.1186/s12903-018-0559-6 kostenfrei https://doaj.org/article/1761b7fca25340e1879e6c060d23f3e0 kostenfrei http://link.springer.com/article/10.1186/s12903-018-0559-6 kostenfrei https://doaj.org/toc/1472-6831 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 18 2018 1 12 |
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RK1-715 |
| title_auth |
Novel caries loci in children and adults implicated by genome-wide analysis of families |
| abstract |
Abstract Background Dental caries is a common chronic disease among children and adults alike, posing a substantial health burden. Caries is affected by multiple genetic and environmental factors, and prior studies have found that a substantial proportion of caries susceptibility is genetically inherited. Methods To identify such genetic factors, we conducted a genome-wide linkage scan in 464 extended families with 2616 individuals from Iowa, Pennsylvania and West Virginia for three dental caries phenotypes: (1) PRIM: dichotomized as zero versus one or more affected primary teeth, (2) QTOT1: age-adjusted quantitative caries measure for both primary and permanent dentitions including pre-cavitated lesions, and (3) QTOT2: age-adjusted quantitative caries excluding pre-cavitated lesions. Genotyping was conducted for approximately 600,000 SNPs on an Illumina platform, pruned to 127,511 uncorrelated SNPs for the analyses reported here. Results Multipoint non-parametric linkage analyses generated peak LOD scores exceeding 2.0 for eight genomic regions, but no LOD scores above 3.0 were observed. The maximum LOD score for each of the three traits was 2.90 at 1q25.3 for PRIM, 2.38 at 6q25.3 for QTOT1, and 2.76 at 5q23.3 for QTOT2. Some overlap in linkage regions was observed among the phenotypes. Genes with a potential role in dental caries in the eight chromosomal regions include CACNA1E, LAMC2, ALMS1, STAMBP, GXYLT2, SLC12A2, MEGF10, TMEM181, ARID1B, and, as well as genes in several immune gene families. Our results are also concordant with previous findings from association analyses on chromosomes 11 and 19. Conclusions These multipoint linkage results provide evidence in favor of novel chromosomal regions, while also supporting earlier association findings for these data. Understanding the genetic etiology of dental caries will allow designing personalized treatment plans based on an individual’s genetic risk of disease. |
| abstractGer |
Abstract Background Dental caries is a common chronic disease among children and adults alike, posing a substantial health burden. Caries is affected by multiple genetic and environmental factors, and prior studies have found that a substantial proportion of caries susceptibility is genetically inherited. Methods To identify such genetic factors, we conducted a genome-wide linkage scan in 464 extended families with 2616 individuals from Iowa, Pennsylvania and West Virginia for three dental caries phenotypes: (1) PRIM: dichotomized as zero versus one or more affected primary teeth, (2) QTOT1: age-adjusted quantitative caries measure for both primary and permanent dentitions including pre-cavitated lesions, and (3) QTOT2: age-adjusted quantitative caries excluding pre-cavitated lesions. Genotyping was conducted for approximately 600,000 SNPs on an Illumina platform, pruned to 127,511 uncorrelated SNPs for the analyses reported here. Results Multipoint non-parametric linkage analyses generated peak LOD scores exceeding 2.0 for eight genomic regions, but no LOD scores above 3.0 were observed. The maximum LOD score for each of the three traits was 2.90 at 1q25.3 for PRIM, 2.38 at 6q25.3 for QTOT1, and 2.76 at 5q23.3 for QTOT2. Some overlap in linkage regions was observed among the phenotypes. Genes with a potential role in dental caries in the eight chromosomal regions include CACNA1E, LAMC2, ALMS1, STAMBP, GXYLT2, SLC12A2, MEGF10, TMEM181, ARID1B, and, as well as genes in several immune gene families. Our results are also concordant with previous findings from association analyses on chromosomes 11 and 19. Conclusions These multipoint linkage results provide evidence in favor of novel chromosomal regions, while also supporting earlier association findings for these data. Understanding the genetic etiology of dental caries will allow designing personalized treatment plans based on an individual’s genetic risk of disease. |
| abstract_unstemmed |
Abstract Background Dental caries is a common chronic disease among children and adults alike, posing a substantial health burden. Caries is affected by multiple genetic and environmental factors, and prior studies have found that a substantial proportion of caries susceptibility is genetically inherited. Methods To identify such genetic factors, we conducted a genome-wide linkage scan in 464 extended families with 2616 individuals from Iowa, Pennsylvania and West Virginia for three dental caries phenotypes: (1) PRIM: dichotomized as zero versus one or more affected primary teeth, (2) QTOT1: age-adjusted quantitative caries measure for both primary and permanent dentitions including pre-cavitated lesions, and (3) QTOT2: age-adjusted quantitative caries excluding pre-cavitated lesions. Genotyping was conducted for approximately 600,000 SNPs on an Illumina platform, pruned to 127,511 uncorrelated SNPs for the analyses reported here. Results Multipoint non-parametric linkage analyses generated peak LOD scores exceeding 2.0 for eight genomic regions, but no LOD scores above 3.0 were observed. The maximum LOD score for each of the three traits was 2.90 at 1q25.3 for PRIM, 2.38 at 6q25.3 for QTOT1, and 2.76 at 5q23.3 for QTOT2. Some overlap in linkage regions was observed among the phenotypes. Genes with a potential role in dental caries in the eight chromosomal regions include CACNA1E, LAMC2, ALMS1, STAMBP, GXYLT2, SLC12A2, MEGF10, TMEM181, ARID1B, and, as well as genes in several immune gene families. Our results are also concordant with previous findings from association analyses on chromosomes 11 and 19. Conclusions These multipoint linkage results provide evidence in favor of novel chromosomal regions, while also supporting earlier association findings for these data. Understanding the genetic etiology of dental caries will allow designing personalized treatment plans based on an individual’s genetic risk of disease. |
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Novel caries loci in children and adults implicated by genome-wide analysis of families |
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https://doi.org/10.1186/s12903-018-0559-6 https://doaj.org/article/1761b7fca25340e1879e6c060d23f3e0 http://link.springer.com/article/10.1186/s12903-018-0559-6 https://doaj.org/toc/1472-6831 |
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Nandita Mukhopadhyay Daniel E. Weeks Eleanor Feingold John R. Shaffer Steven M. Levy Alexandre R. Vieira Rebecca L. Slayton Daniel W. McNeil Robert J. Weyant Richard J. Crout Mary L. Marazita |
| author2Str |
Nandita Mukhopadhyay Daniel E. Weeks Eleanor Feingold John R. Shaffer Steven M. Levy Alexandre R. Vieira Rebecca L. Slayton Daniel W. McNeil Robert J. Weyant Richard J. Crout Mary L. Marazita |
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10.1186/s12903-018-0559-6 |
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| up_date |
2024-07-04T01:46:10.267Z |
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