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Genetic control of DNA methylation is largely shared across European and East Asian populations

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机构: [1]Univ Queensland, Inst Mol Biosci, Brisbane, Qld 4072, Australia [2]Westlake Univ, Sch Life Sci, Hangzhou 310030, Zhejiang, Peoples R China [3]Capital Med Univ, Beijing Tongren Hosp, Beijing Inst Ophthalmol, Beijing 100008, Peoples R China [4]Wenzhou Med Univ, Sch Ophthalmol & Optometry, Wenzhou 325027, Peoples R China [5]Univ Edinburgh, Dept Psychol, Lothian Birth Cohorts, Edinburgh EH8 9JZ, Scotland [6]Queensland Inst Med Res Berghofer, Brisbane, Qld 4006, Australia [7]Peking Univ Third Hosp, Dept Neurol, Beijing 100191, Peoples R China [8]Westlake Lab Life Sci & Biomed, Hangzhou 310024, Zhejiang, Peoples R China [9]Univ Queensland, Queensland Brain Inst, Brisbane, Qld 4072, Australia [10]Univ Edinburgh, Inst Genet & Canc, Ctr Genom & Expt Med, Edinburgh EH4 2XU, Scotland
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DNA methylation is an ideal trait to study the extent of the shared genetic control across ancestries, effectively providing hundreds of thousands of model molecular traits with large QTL effect sizes. We investigate cis DNAm QTLs in three European (n = 3701) and two East Asian (n = 2099) cohorts to quantify the similarities and differences in the genetic architecture across populations. We observe 80,394 associated mQTLs (62.2% of DNAm probes with significant mQTL) to be significant in both ancestries, while 28,925 mQTLs (22.4%) are identified in only a single ancestry. mQTL effect sizes are highly conserved across populations, with differences in mQTL discovery likely due to differences in allele frequency of associated variants and differing linkage disequilibrium between causal variants and assayed SNPs. This study highlights the overall similarity of genetic control across ancestries and the value of ancestral diversity in increasing the power to detect associations and enhancing fine mapping resolution. Most functional genomic resources have been based on individuals with European ancestry. Here, the authors perform DNA methylation quantitative trait locus (mQTL) analyses in 3,701 European and 2,099 East Asian individuals to identify thousands of genetic variants, a large degree of which are shared between the two populations.

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大类 | 1 区 综合性期刊
小类 | 1 区 综合性期刊
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Q1 MULTIDISCIPLINARY SCIENCES
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Q1 MULTIDISCIPLINARY SCIENCES

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第一作者机构: [1]Univ Queensland, Inst Mol Biosci, Brisbane, Qld 4072, Australia
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