Meta-analysis of genome-wide association scans for genetic susceptibility to endometriosis in Japanese population

Meta-analysis of genome-wide association scans for genetic susceptibility to endometriosis in Japanese population
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DOI:
10.1038/jhg.2010.118
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发表时间:
2010-12-01
影响因子:
3.5
通讯作者:
Tanaka, Kenichi
Tanaka, Kenichi
中科院分区:
生物学3区
文献类型:
--
作者:
Adachi, Sosuke;Tajima, Atsushi;Tanaka, Kenichi

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为了确定日本女性子宫内膜异位症的易感基因,使用两个病例对照队列进行了全基因组关联 (GWA) 分析,该队列使用 Affymetrix Mapping 500K Array 或全基因组人类 SNP Array 6.0 进行基因分型。在两个阵列队列中的每一个中,都对新获得的基因型数据以及先前分析的日本综合数据库项目数据进行了严格的质量控制(QC)过滤。对每个队列中的样本和单核苷酸多态性 (SNP) 进行基于 QC 的过滤后,使用对 696 名子宫内膜异位症患者和 825 名对照者进行的两项 GWA 研究的荟萃分析,测试了两个基因分型平台中的 282 838 个 SNP 与子宫内膜异位症的关联。荟萃分析显示,共同的易感位点不太可能对疾病风险产生重大影响。另一方面,具有 P 值的 SNP 过多
To identify susceptibility genes for endometriosis in Japanese women, genome-wide association (GWA) analysis was performed using two case-control cohorts genotyped with the Affymetrix Mapping 500K Array or Genome-Wide Human SNP Array 6.0. In each of the two array cohorts, stringent quality control (QC) filters were applied to newly obtained genotype data, together with previously analyzed data from the Japanese Integrated Database Project. After QC-based filtering of samples and single nucleotide polymorphisms (SNPs) in each cohort, 282 838 SNPs in both genotyping platforms were tested for association with endometriosis using a meta-analysis of the two GWA studies with 696 patients with endometriosis and 825 controls. The meta-analysis revealed that a common susceptibility locus conferring a large effect on the disease risk was unlikely. On the other hand, an excess of SNPs with P-values