Table 2.

Candidate genes involved in etiology of polycystic ovary syndrome related to cell proliferation and signaling and chronic inflammation

Gene	Genetic marker(s)	Type of study	Physiologic function	Studied population	Type of polymorphism	Reference
DENND1A	rs2479106	Case control	Clathrin-mediated endocytosis	Caucasian	rs2479106 G	(61)
DENND1A	rs10818854 rs2479106 rs10986105	Meta-analysis	Clathrin-mediated endocytosis	Asian and European	rs10818854 rs10986105	(62)
DENND1A	rs2479106 rs10818854	Meta-analysis	Clathrin-mediated endocytosis	Chinese Han	rs10818854	(63)
DENND1A	rs10818854 rs2479106 rs10986105	Retrospective case-control study.	Clathrin-mediated endocytosis	Tunisian	0818854 rs10986105	(64)
AQP8	rs7198838 rs1076973 rs1076974 rs2287797 rs2287798 rs2287796	case control	Water channel protein	Chinese Han	rs2287798	(65)
YAP1	rs11225138 rs11225161 rs1122516	Replication study	Transcriptional regulator	Chinese Han	rs11225161 (A/G)	(66)
TNF	rs1799964 rs1799724	Family association	Pro-inflammatory cytokine	Chinese Han	rs1799964	(67)
TGF-β1	rs4803457C/T rs11466313 deletion/AGG rs2217130C/T rs1800469C/T rs1800470C/T	GWAS	Low-grade chronic inflammation	Chinese Han	rs4803457C/T	(68)
TNFα IL-6 IL-10	−308 G/A −174 G/C −1082 G/A	case-control	Inflammatory cytokines	Turkish	IL-6 promoter region polymorphism	(60)
TNFRSF1B	M196R (676 T→G) variant in exon 6	GWAS	TNF signaling	Spanish Italian	M196R (676 T→G)	(69)
IL-6	-174 G/C	Case- control	Inflammatory cytokine	Indian	−174 G/C SNP	(70)
TNFα IL-6	(−308 G/A), (−174 G/C)	meta-analysis	Chronic low-grade inflammation	Different populations	No association	(71)

DENND1A: DENN domain containing 1A; AQP8: Aquaporin 8; YAP1: yeast associated protein 1; TNF: Tumor necrosis factor; TGF-β1: transforming growth factor β1; TNFRSF1B: TNF receptor 2