Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers

Abstract The OCA2-HERC2 locus is responsible for the greatest proportion of eye color variation in humans. Numerous studies extensively described both functional SNPs and associated patterns of variation over this region. The goal of our study is to examine how these haplotype structures and allelic...

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Autores principales:	Philippe Suarez, Karine Baumer, Diana Hall
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/2594a5cc88d6482589409bc93893ae3d
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spelling	oai:doaj.org-article:2594a5cc88d6482589409bc93893ae3d2021-11-21T12:22:57ZFurther insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers10.1038/s41598-021-01940-w2045-2322https://doaj.org/article/2594a5cc88d6482589409bc93893ae3d2021-11-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-01940-whttps://doaj.org/toc/2045-2322Abstract The OCA2-HERC2 locus is responsible for the greatest proportion of eye color variation in humans. Numerous studies extensively described both functional SNPs and associated patterns of variation over this region. The goal of our study is to examine how these haplotype structures and allelic associations vary when highly variable markers such as microsatellites are used. Eleven microsatellites spanning 357 Kb of OCA2-HERC2 genes are analyzed in 3029 individuals from worldwide populations. We found that several markers display large differences in allele frequency (10% to 35% difference) among Europeans, East Asians and Africans. In Europe, the alleles showing increased frequency can also discriminate individuals with (IrisPlex) predicted blue and brown eyes. Distinct haplotypes are identified around the variants C and T of the functional SNP rs12913832 (associated to blue eyes), with linkage disequilibrium r2 values significant up to 237 Kb. The haplotype carrying the allele rs12913832 C has high frequency (76%) in blue eye predicted individuals (30% in brown eye predicted individuals), while the haplotype associated to the allele rs12913832 T is restricted to brown eye predicted individuals. Finally, homozygosity values reach levels of 91% near rs12913832. Odds ratios show values of 4.2, 7.4 and 10.4 for four markers around rs12913832 and 7.1 for their core haplotype. Hence, this study provides an example on the informativeness of multiallelic markers that, despite their current limited potential contribution to forensic eye color prediction, supports the use of microsatellites for identifying causing variants showing similar genetic features and history.Philippe SuarezKarine BaumerDiana HallNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Philippe Suarez Karine Baumer Diana Hall Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers
description	Abstract The OCA2-HERC2 locus is responsible for the greatest proportion of eye color variation in humans. Numerous studies extensively described both functional SNPs and associated patterns of variation over this region. The goal of our study is to examine how these haplotype structures and allelic associations vary when highly variable markers such as microsatellites are used. Eleven microsatellites spanning 357 Kb of OCA2-HERC2 genes are analyzed in 3029 individuals from worldwide populations. We found that several markers display large differences in allele frequency (10% to 35% difference) among Europeans, East Asians and Africans. In Europe, the alleles showing increased frequency can also discriminate individuals with (IrisPlex) predicted blue and brown eyes. Distinct haplotypes are identified around the variants C and T of the functional SNP rs12913832 (associated to blue eyes), with linkage disequilibrium r2 values significant up to 237 Kb. The haplotype carrying the allele rs12913832 C has high frequency (76%) in blue eye predicted individuals (30% in brown eye predicted individuals), while the haplotype associated to the allele rs12913832 T is restricted to brown eye predicted individuals. Finally, homozygosity values reach levels of 91% near rs12913832. Odds ratios show values of 4.2, 7.4 and 10.4 for four markers around rs12913832 and 7.1 for their core haplotype. Hence, this study provides an example on the informativeness of multiallelic markers that, despite their current limited potential contribution to forensic eye color prediction, supports the use of microsatellites for identifying causing variants showing similar genetic features and history.
format	article
author	Philippe Suarez Karine Baumer Diana Hall
author_facet	Philippe Suarez Karine Baumer Diana Hall
author_sort	Philippe Suarez
title	Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers
title_short	Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers
title_full	Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers
title_fullStr	Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers
title_full_unstemmed	Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers
title_sort	further insight into the global variability of the oca2-herc2 locus for human pigmentation from multiallelic markers
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/2594a5cc88d6482589409bc93893ae3d
work_keys_str_mv	AT philippesuarez furtherinsightintotheglobalvariabilityoftheoca2herc2locusforhumanpigmentationfrommultiallelicmarkers AT karinebaumer furtherinsightintotheglobalvariabilityoftheoca2herc2locusforhumanpigmentationfrommultiallelicmarkers AT dianahall furtherinsightintotheglobalvariabilityoftheoca2herc2locusforhumanpigmentationfrommultiallelicmarkers
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Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers

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