Genetic determinants of polycystic ovary syndrome: progress and future directions

被引：93

作者：

Jones, Michelle R. ^{[1
,2
]}

Goodarzi, Mark O. ^{[1
]}

机构：

[1] Cedars Sinai Med Ctr, Dept Med, Div Endocrinol Diabet & Metab, Los Angeles, CA 90048 USA

[2] Cedars Sinai Med Ctr, Dept Biomed Sci, Bioinformat & Computat Biol Res Ctr, Los Angeles, CA 90048 USA

来源：

FERTILITY AND STERILITY | 2016年 / 106卷 / 01期

关键词：

PCOS; SNP; GWAS; linkage; association study; GENOME-WIDE ASSOCIATION; SINGLE NUCLEOTIDE POLYMORPHISM; INSULIN-RECEPTOR GENE; FAMILY-BASED ANALYSIS; BODY-MASS INDEX; FACTOR; 7-LIKE; SYNDROME PCOS; SUSCEPTIBILITY LOCI; EUROPEAN ANCESTRY; CHROMOSOME; 2P16.3;

D O I：

10.1016/j.fertnstert.2016.04.040

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

The field of the genetics of polycystic ovary syndrome (PCOS) has relatively recently moved into the era of genome-wide association studies. This has led to the discovery of 16 robust loci for PCOS. Some loci contain genes with clear roles in reproductive (LHCGR, FSHR, and FSHB) and metabolic (INSR and HMGA2) dysfunction in the syndrome. The next challenge facing the field is the identification of causal variants and genes and the role they play in PCOS pathophysiology. The potential for gene discovery to improve diagnosis and treatment of PCOS is promising, though there is much to be done in the field before the current findings can be translated to the clinic. (C) 2016 by American Society for Reproductive Medicine.

引用

页码：25 / 32

页数：8

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