Linkage and association of variants in the dopamine receptor 2 gene (DRD2) with polycystic ovary syndrome

Table 1 Polycystic ovarian syndrome (PCOS) DRD2-risk single nucleotide polymorphisms (SNPs)

Model¹	SNP	Position	Ref	Alt	Risk Allele	Consequence	LD block	Reported in PCOS or related phenotype? ²
R1	rs6277	113,412,737	G	A	A	Synonymous (P319P)	Independent	Obesity [36]
D1, D2	rs60599314	113,435,709	C	T	T	Intronic	Independent	Novel
D1, R1	rs112646785	113,444,554	T	C	T	Intronic	Independent	T2D-MDD [30]
D1, R1	rs4936274	113,459,729	A	G	A	Intronic	Independent	Novel
R1	rs4648317	113,460,810	G	A	A	Intronic	Independent	Novel

¹Models: D1: dominant, complete penetrance, D2: dominant, incomplete penetrance, R1: recessive, complete penetrance, R2: recessive, incomplete penetrance, T2D: type 2 diabetes, MDD: major depressive disorder; ²PCOS-related phenotypes: type 2 diabetes, obesity, insulin resistance, metabolic syndrome, hyperglycemia, oligoamenorrhea, anovulation, irregular menses, hyperandrogenism, male-pattern baldness, acne, hirsutism, infertility

ISSN: 1757-2215