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鉴定与非洲裔人群肤色相关的新基因座。

Identification of a novel locus associated with skin colour in African-admixed populations.

机构信息

Research Unit, Hospital Universitario N.S. de Candelaria, Universidad de La Laguna, Santa Cruz de Tenerife, Spain.

Applied Genomics Group (G2A), Section of Genetics, Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna, San Cristobal de La Laguna, Tenerife, Spain.

出版信息

Sci Rep. 2017 Mar 16;7:44548. doi: 10.1038/srep44548.

DOI:10.1038/srep44548
PMID:28300201
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5353593/
Abstract

Skin pigmentation is a complex trait that varies largely among populations. Most genome-wide association studies of this trait have been performed in Europeans and Asians. We aimed to uncover genes influencing skin colour in African-admixed individuals. We performed a genome-wide association study of melanin levels in 285 Hispanic/Latino individuals from Puerto Rico, analyzing 14 million genetic variants. A total of 82 variants with p-value ≤1 × 10 were followed up in 373 African Americans. Fourteen single nucleotide polymorphisms were replicated, of which nine were associated with skin colour at genome-wide significance in a meta-analysis across the two studies. These results validated the association of two previously known skin pigmentation genes, SLC24A5 (minimum p = 2.62 × 10, rs1426654) and SLC45A2 (minimum p = 9.71 × 10, rs16891982), and revealed the intergenic region of BEND7 and PRPF18 as a novel locus associated with this trait (minimum p = 4.58 × 10, rs6602666). The most significant variant within this region is common among African-descent populations but not among Europeans or Native Americans. Our findings support the advantages of analyzing African-admixed populations to discover new genes influencing skin pigmentation.

摘要

皮肤色素沉着是一种复杂的特征，在不同人群中差异很大。大多数针对该特征的全基因组关联研究都是在欧洲人和亚洲人中进行的。我们旨在揭示影响非裔混血个体肤色的基因。我们对来自波多黎各的 285 名西班牙裔/拉丁裔个体的黑色素水平进行了全基因组关联研究，分析了 1400 万个遗传变异。在 373 名非裔美国人中对总共 82 个 p 值≤1×10 的变异进行了后续研究。在两项研究的荟萃分析中，有 14 个单核苷酸多态性得到了复制，其中 9 个与皮肤颜色相关，达到全基因组显著水平。这些结果验证了两个先前已知的皮肤色素沉着基因 SLC24A5（最小 p 值=2.62×10，rs1426654）和 SLC45A2（最小 p 值=9.71×10，rs16891982）与该特征的关联，并揭示了 BEND7 和 PRPF18 之间的基因间区域是一个与该特征相关的新基因座（最小 p 值=4.58×10，rs6602666）。该区域内最显著的变异在非洲裔人群中很常见，但在欧洲人和美洲原住民中则不然。我们的研究结果支持分析非裔混血人群以发现影响皮肤色素沉着的新基因的优势。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14e0/5353593/14af598735fc/srep44548-f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14e0/5353593/4dd815a4c290/srep44548-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14e0/5353593/2ac55d3b5191/srep44548-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14e0/5353593/d4455963e2b3/srep44548-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14e0/5353593/14af598735fc/srep44548-f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14e0/5353593/4dd815a4c290/srep44548-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14e0/5353593/2ac55d3b5191/srep44548-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14e0/5353593/d4455963e2b3/srep44548-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14e0/5353593/14af598735fc/srep44548-f4.jpg

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3
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4
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6
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7
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Int J Legal Med. 2021 Jul;135(4):1329-1339. doi: 10.1007/s00414-021-02554-7. Epub 2021 Apr 22.
9
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10
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4
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7
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