Implication of vasopressin receptor genes (AVPR1A and AVPR1B) in the susceptibility to polycystic ovary syndrome

Table 1 Polycystic Ovarian Syndrome (PCOS) AVPR1A and AVPR1B-Risk Single Nucleotide Polymorphisms (SNPs)

Gene	Model¹	SNP	Position	Ref	Alt	Risk Allele	Consequence	LD block	Reported in PCOS or associated phenotypes/traits^*?
AVPR1A	D1, R1, R2	rs74097652	63,147,944	T	C	T	Intronic	Independent	Novel
AVPR1A	D1	rs113578517	63,149,913	G	T	T	Missense (F308L)	Independent	Novel
AVPR1B	D1	rs28632197	206,110,373	C	T	T	Missense (R364L)	Independent	Novel
AVPR1B	D2	rs3891058	206,116,219	A	G	G	Synonymous (H224 =)	NA	Novel

^aModels: D1: dominant, complete penetrance; D2: dominant, incomplete penetrance; R1: recessive, complete penetrance; R2: recessive, incomplete penetrance
^*Phenotypes and traits associated with PCOS which were not reported: metabolic syndrome, hyperglycemia, irregular menses, anovulation, infertility, acne, oligomenorrhea, obesity, insulin resistance, T2D, hyperandrogenism, hirsutism

ISSN: 1757-2215