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Association of pigmentation related-genes polymorphisms and geographic environmental variables in the Chinese population

BACKGROUND: Human skin color is highly heritable and one of the most variable phenotypic traits. However, the genetic causes and environmental selective pressures underlying this phenotypic variation have remained largely unknown. To investigate whether the pigmentation related-genes polymorphisms a...

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Autor principal: Wang, Yuxin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8268332/
https://www.ncbi.nlm.nih.gov/pubmed/34238381
http://dx.doi.org/10.1186/s41065-021-00189-7
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author Wang, Yuxin
author_facet Wang, Yuxin
author_sort Wang, Yuxin
collection PubMed
description BACKGROUND: Human skin color is highly heritable and one of the most variable phenotypic traits. However, the genetic causes and environmental selective pressures underlying this phenotypic variation have remained largely unknown. To investigate whether the pigmentation related-genes polymorphisms are associated with the geographic environmental variables. We selected randomly 795 healthy individuals from eight ethnic groups in nine provinces in China. Six single nucleotide polymorphisms (SNPs) of SLC45A2 and TYR were genotyped using Agena MassARRAY. The Chi-square test and Spearman correlation analysis were used to compare the frequency distribution of genotypes among different ethnic groups and evaluate the relationship between SNP genetic diversity and environmental variables, respectively. RESULTS: The results indicated that rs28777 and rs183671 (SLC45A2) and rs1042602 (TYR) genotype frequency distributions were significantly different between the Xinjiang-Uighur and other ethnic groups (P < 0.05). Spearman correlation analysis found that rs28777-A (r = − 0.090, P = 0.011), rs183671-G (r = − 0.105, P = 0.003), rs1042602-A (r = − 0.108, P = 0.002), rs1126809-A (r = − 0.151, P < 0.001) allele frequencies were negatively correlated with the longitude; rs183671-G (r = 0.151), rs1042602-A (r = 0.157) and rs1126809-A (r = 0.138) allele frequencies were positively associated with the latitude (P < 0.001); rs183671-G (r = 0.116, P = 0.001), rs1042602-A (r = 0.105, P = 0.003) and rs1126809-A (r = 0.070, P = 0.048) allele frequencies were positively correlated with the sunshine hours; rs183671-G (r = − 0.076, P = 0.033), rs1042602-A (r = − 0.079, P = 0.027) and rs1126809-A (r = − 0.076, P = 0.031) were negatively correlated with the annual average temperature. CONCLUSIONS: Our results confirmed the idea that environmental factors have been an important selective pressure upon pigmentation related gene polymorphisms. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s41065-021-00189-7.
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spelling pubmed-82683322021-07-09 Association of pigmentation related-genes polymorphisms and geographic environmental variables in the Chinese population Wang, Yuxin Hereditas Research BACKGROUND: Human skin color is highly heritable and one of the most variable phenotypic traits. However, the genetic causes and environmental selective pressures underlying this phenotypic variation have remained largely unknown. To investigate whether the pigmentation related-genes polymorphisms are associated with the geographic environmental variables. We selected randomly 795 healthy individuals from eight ethnic groups in nine provinces in China. Six single nucleotide polymorphisms (SNPs) of SLC45A2 and TYR were genotyped using Agena MassARRAY. The Chi-square test and Spearman correlation analysis were used to compare the frequency distribution of genotypes among different ethnic groups and evaluate the relationship between SNP genetic diversity and environmental variables, respectively. RESULTS: The results indicated that rs28777 and rs183671 (SLC45A2) and rs1042602 (TYR) genotype frequency distributions were significantly different between the Xinjiang-Uighur and other ethnic groups (P < 0.05). Spearman correlation analysis found that rs28777-A (r = − 0.090, P = 0.011), rs183671-G (r = − 0.105, P = 0.003), rs1042602-A (r = − 0.108, P = 0.002), rs1126809-A (r = − 0.151, P < 0.001) allele frequencies were negatively correlated with the longitude; rs183671-G (r = 0.151), rs1042602-A (r = 0.157) and rs1126809-A (r = 0.138) allele frequencies were positively associated with the latitude (P < 0.001); rs183671-G (r = 0.116, P = 0.001), rs1042602-A (r = 0.105, P = 0.003) and rs1126809-A (r = 0.070, P = 0.048) allele frequencies were positively correlated with the sunshine hours; rs183671-G (r = − 0.076, P = 0.033), rs1042602-A (r = − 0.079, P = 0.027) and rs1126809-A (r = − 0.076, P = 0.031) were negatively correlated with the annual average temperature. CONCLUSIONS: Our results confirmed the idea that environmental factors have been an important selective pressure upon pigmentation related gene polymorphisms. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s41065-021-00189-7. BioMed Central 2021-07-08 /pmc/articles/PMC8268332/ /pubmed/34238381 http://dx.doi.org/10.1186/s41065-021-00189-7 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Wang, Yuxin
Association of pigmentation related-genes polymorphisms and geographic environmental variables in the Chinese population
title Association of pigmentation related-genes polymorphisms and geographic environmental variables in the Chinese population
title_full Association of pigmentation related-genes polymorphisms and geographic environmental variables in the Chinese population
title_fullStr Association of pigmentation related-genes polymorphisms and geographic environmental variables in the Chinese population
title_full_unstemmed Association of pigmentation related-genes polymorphisms and geographic environmental variables in the Chinese population
title_short Association of pigmentation related-genes polymorphisms and geographic environmental variables in the Chinese population
title_sort association of pigmentation related-genes polymorphisms and geographic environmental variables in the chinese population
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8268332/
https://www.ncbi.nlm.nih.gov/pubmed/34238381
http://dx.doi.org/10.1186/s41065-021-00189-7
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