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Pooling-Based Genome-Wide Association Study Identifies Risk Loci in the Pathogenesis of Ovarian Endometrioma in Chinese Han Women

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单位: [1]Huazhong Univ Sci & Technol, Dept Obstet & Gynecol, Tongji Hosp, Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R China [2]Huazhong Univ Sci & Technol, Dept Obstet & Gynecol, Cent Hosp Wuhan, Tongji Med Coll, Wuhan, Hubei, Peoples R China [3]Guizhou Med Univ, Dept Obstet & Gynecol, Affiliated Hosp, Guiyang, Guizhou, Peoples R China
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关键词: endometriosis ovarian endometrioma pooled DNA genome-wide association study single-nucleotide polymorphism

摘要:
Endometriosis, regarded as a complex disease, is influenced by multiple genetic factors. Recent genome-wide association studies (GWASs) in endometriosis have identified several susceptibility loci in Caucasian and Japanese populations. However, the overlapped susceptible loci were few. This case-control study tried to identify risk loci-related genes for ovarian endometrioma in Chinese Han women from central China using DNA pooling-based GWAS. Genome DNA samples were extracted from 3038 participants in central China. Pooling-based genome-wide scan and individual genotyping were performed using Affymetrix Genome-Wide Human SNP Array 6.0 and IPLEX Gold system, which demonstrated 10 ovarian endometrioma-related novel risk loci. There were 3 of them with P value < 5 x 10(-06), separately locating in intron of insulin-like growth factor 1 receptor, chromosome 7 open reading frame 50, and Meis homeobox 1. In conclusion, the pooling-based GWAS for ovarian endometrioma identified some novel single-nucleotide polymorphisms in Chinese Han women of central China. Further assessment in other samples will be crucial to confirm the susceptibility of these results and explore the mechanisms of the related genes in the pathogenesis of ovarian endometrioma.

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出版当年[2016]版:
大类 | 3 区 医学
小类 | 3 区 妇产科学 3 区 生殖生物学
最新[2025]版:
大类 | 4 区 医学
小类 | 4 区 妇产科学 4 区 生殖生物学
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出版当年[2015]版:
Q2 REPRODUCTIVE BIOLOGY Q2 OBSTETRICS & GYNECOLOGY
最新[2023]版:
Q2 OBSTETRICS & GYNECOLOGY Q2 REPRODUCTIVE BIOLOGY

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第一作者单位: [1]Huazhong Univ Sci & Technol, Dept Obstet & Gynecol, Tongji Hosp, Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R China
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