The melatonin receptor genes are linked and associated with the risk of polycystic ovary syndrome

Table 1 Polycystic Ovarian Syndrome (PCOS) MTNR1A- and MTNR1B-Risk Single Nucleotide Polymorphisms (SNPs)

Gene	Model¹	SNP	Position	Ref	Alt	Risk Allele	Consequence	LD block	Reported in PCOS or related phenotype?²
MTNR1A	D1, D2, R1, R2	rs6820205	186,543,713	T	C	C	Intronic	Independent	Novel
	D1, D2, R1, R2	rs2119883	186,547,921	C	T	T	Intronic	Set01	T2D³ [13]
	D1	rs4862706	186,552,540	G	A	A	Intronic	Independent	Novel
	D1, D2	rs13147179	186,554,365	G	A	A	Intronic	Set01	T2D³ [13]
MTNR1B	D1, R1	rs4601728	92,971,992	A	G	G	Intronic	Independent	T2D-MDD⁴ [14]
MTNR1B	D1, D2, R1	rs61747139	92,981,951	A	G	G	Missense	Independent	T2D³ [14]

¹Models: D1: dominant, complete penetrance, D2: dominant, incomplete penetrance, R1: recessive, complete penetrance, R2: recessive, incomplete penetrance. ²(i.e., type 2 diabetes, obesity, insulin resistance, metabolic syndrome, hyperglycemia, oligoamenorrhea, anovulation, irregular menses, hyperandrogenism, male-pattern baldness, acne, hirsutism, infertility). ³T2D=type 2 diabetes, ⁴MDD=major depressive disorder)

ISSN: 1757-2215