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Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.CAV1 和 CAV2 附近的常见变异与原发性开角型青光眼有关。
Nat Genet. 2010 Oct;42(10):906-9. doi: 10.1038/ng.661. Epub 2010 Sep 12.
2
Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus.C6orf97-ESR1 乳腺癌易感位点的祖源转移精细定位映射。
PLoS Genet. 2010 Jul 22;6(7):e1001029. doi: 10.1371/journal.pgen.1001029.
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Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies.JAG1 与骨密度和骨质疏松性骨折的关联：全基因组关联研究和后续的复制研究。
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Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.通过全基因组关联研究的大规模荟萃分析确定的20个骨密度位点。
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5
A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.一项针对亚洲人群的大规模全基因组关联研究揭示了影响八个数量性状的遗传因素。
Nat Genet. 2009 May;41(5):527-34. doi: 10.1038/ng.357. Epub 2009 Apr 26.
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Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups.全基因组关联研究及后续重复研究确定ADAMTS18和TGFBR3为不同种族群体中的骨量候选基因。
Am J Hum Genet. 2009 Mar;84(3):388-98. doi: 10.1016/j.ajhg.2009.01.025. Epub 2009 Feb 26.
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Common variants in the region around Osterix are associated with bone mineral density and growth in childhood.osterix基因周围区域的常见变异与儿童期骨矿物质密度及生长发育相关。
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New sequence variants associated with bone mineral density.与骨密度相关的新序列变异体。
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Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.骨密度、骨质疏松症和骨质疏松性骨折：一项全基因组关联研究。
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欧洲的骨密度基因座也与东亚人群的骨密度有关。

European bone mineral density loci are also associated with BMD in East-Asian populations.

机构信息

deCODE Genetics, Reykjavik, Iceland.

出版信息

PLoS One. 2010 Oct 7;5(10):e13217. doi: 10.1371/journal.pone.0013217.

DOI:10.1371/journal.pone.0013217
PMID:20949110
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2951352/
Abstract

Most genome-wide association (GWA) studies have focused on populations of European ancestry with limited assessment of the influence of the sequence variants on populations of other ethnicities. To determine whether markers that we have recently shown to associate with Bone Mineral Density (BMD) in Europeans also associate with BMD in East-Asians we analysed 50 markers from 23 genomic loci in samples from Korea (n = 1,397) and two Chinese Hong Kong sample sets (n = 3,869 and n = 785). Through this effort we identified fourteen loci that associated with BMD in East-Asian samples using a false discovery rate (FDR) of 0.05; 1p36 (ZBTB40, P = 4.3×10(-9)), 1p31 (GPR177, P = 0.00012), 3p22 (CTNNB1, P = 0.00013), 4q22 (MEPE, P = 0.0026), 5q14 (MEF2C, P = 1.3×10(-5)), 6q25 (ESR1, P = 0.0011), 7p14 (STARD3NL, P = 0.00025), 7q21 (FLJ42280, P = 0.00017), 8q24 (TNFRSF11B, P = 3.4×10(-5)), 11p15 (SOX6, P = 0.00033), 11q13 (LRP5, P = 0.0033), 13q14 (TNFSF11, P = 7.5×10(-5)), 16q24 (FOXL1, P = 0.0010) and 17q21 (SOST, P = 0.015). Our study marks an early effort towards the challenge of cataloguing bone density variants shared by many ethnicities by testing BMD variants that have been established in Europeans, in East-Asians.

摘要

大多数全基因组关联（GWA）研究都集中在欧洲血统的人群上，对这些序列变体对其他种族人群的影响评估有限。为了确定我们最近在欧洲人群中发现与骨密度（BMD）相关的标记物是否也与东亚人群的 BMD 相关，我们分析了来自韩国（n=1397）和两个中国香港样本集（n=3869 和 n=785）的 23 个基因组座的 50 个标记物。通过这项研究，我们确定了 14 个与东亚人群 BMD 相关的位点，使用错误发现率（FDR）为 0.05；1p36（ZBTB40，P=4.3×10(-9)）、1p31（GPR177，P=0.00012）、3p22（CTNNB1，P=0.00013）、4q22（MEPE，P=0.0026）、5q14（MEF2C，P=1.3×10(-5)）、6q25（ESR1，P=0.0011）、7p14（STARD3NL，P=0.00025）、7q21（FLJ42280，P=0.00017）、8q24（TNFRSF11B，P=3.4×10(-5)）、11p15（SOX6，P=0.00033）、11q13（LRP5，P=0.0033）、13q14（TNFSF11，P=7.5×10(-5)）、16q24（FOXL1，P=0.0010）和 17q21（SOST，P=0.015）。我们的研究标志着朝着对许多种族共同的骨密度变异进行编目的挑战迈出的早期努力，通过测试在欧洲人群中已经建立的 BMD 变异在东亚人群中的表现。