Table 1. GWAS Loci Associated with Polycystic Ovary Syndrome.

Marker	Location	Nearest Gene(s)	Comments	Refs
rs1351592	2q33.3-q34	ERBB4 (Erb-B2 receptor tyrosine kinase 4)	PCOS susceptibility allele also associates with higher AMH levels in girls. Nominal associations were found for two other members of the EGFR family (ERBB2/HER2 and ERBB3 HER3).	[19]
rs7563201 rs13429458	2p21	THADA (thyroid adenoma associated)	PCOS susceptibility allele also associates with higher AMH levels in girls.	[19,59]
rs13405728	2p21	LHCGR (luteinizing hormone/choriogonadotropin receptor)		[59]
rs2268361	2p21-p16	FSHR (follicle-stimulating hormone receptor)		[60]
rs13164856	5q31	RAD50 (RAD50 double-strand break repair protein)	PCOS susceptibility allele also associates with higher AMH levels in girls.	[19]
rs804279	8p23.1-p22	GATA4 (GATA-binding protein), NEIL2 (nei-like DNA glycosylase 2)		[62]
rs10993397 rs3802457	9q22.32	C9orf3, FANCC (Fanconi anemia complementation group C)		[60,62]
rs2479106	9q33.3	DENND1A (DENN domain-containing 1A)		[59]
rs11031006	11p13	FSHB (follicle-stimulating hormone ß subunit)	PCOS susceptibility allele also associates with higher AMH levels in girls. Marker also associated with FSH and LH levels.	[19,62]
rs1894116 rs11225154	11q13	YAP1 (Yes-associated protein 1)	PCOS susceptibility allele also associates with higher AMH levels in girls.	[19,60]
rs705702	12q13	RAB5B (RAB5B, member RAS oncogene family), SUOX (sulfite oxidase)		[60]
rs2272046	12q15	HMGA2 (high mobility group AT-hook 2)		[60]
rs1275468	12q21.2	KRR1 [KRR1, small subunit processome component, homolog (yeast)]	PCOS susceptibility allele also associates with higher AMH levels in girls.	[19]
rs4784165	16q12.1	TOX3 (TOX high mobility group box family member 3)		[60]
rs2059807	19p13.3-p13.2	INSR (insulin receptor)		[60]
rs6022786	20q13.2	SUMO1P1 (SUMO 1 pseudogene 1)		[60]