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Pathway analysis based on a genome-wide association study of polycystic ovary syndrome

Title
Pathway analysis based on a genome-wide association study of polycystic ovary syndrome
Authors
ShimU.KimH.-N.LeeH.OhJ.-Y.SungY.-A.H.-L.
Ewha Authors
김형래성연아오지영이혜진김한나심은진
SCOPUS Author ID
김형래scopus; 성연아scopus; 오지영scopus; 이혜진scopus; 김한나scopus; 심은진scopus
Issue Date
2015
Journal Title
PLoS ONE
ISSN
1932-6203JCR Link
Citation
vol. 10, no. 8
Publisher
Public Library of Science
Indexed
SCIE; SCOPUS WOS scopus
Abstract
Background Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women of reproductive age, and it is affected by both environmental and genetic factors. Although the genetic component of PCOS is evident, studies aiming to identify susceptibility genes have shown controversial results. This study conducted a pathway-based analysis using a dataset obtained through a genome-wide association study (GWAS) to elucidate the biological pathways that contribute to PCOS susceptibility and the associated genes. Methods We used GWAS data on 636,797 autosomal single nucleotide polymorphisms (SNPs) from 1,221 individuals (432 PCOS patients and 789 controls) for analysis. A pathway analysis was conducted using meta-analysis gene-set enrichment of variant associations (MAGENTA). Top-ranking pathways or gene sets associated with PCOS were identified, and significant genes within the pathways were analyzed. Results The pathway analysis of the GWAS dataset identified significant pathways related to oocyte meiosis and the regulation of insulin secretion by acetylcholine and free fatty acids (all nominal gene-set enrichment analysis (GSEA) P-values < 0.05). In addition, INS, GNAQ, STXBP1, PLCB3, PLCB2, SMC3 and PLCZ1 were significant genes observed within the biological pathways (all gene P-values < 0.05). Conclusions By applying MAGENTA pathway analysis to PCOS GWAS data, we identified significant pathways and candidate genes involved in PCOS. Our findings may provide new leads for understanding the mechanisms underlying the development of PCOS. © 2015 Shim et al.
DOI
10.1371/journal.pone.0136609
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의학전문대학원 > 의학과 > Journal papers
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