The melanocortin receptor genes are linked to and associated with the risk of polycystic ovary syndrome in Italian families

Table 1 Polycystic ovary syndrome (PCOS) melanocortin receptor genes risk single nucleotide polymorphisms (SNPs)

Gene	Model¹	SNP	Position	REF	ALT	Risk allele	Consequence	LD block	Reported?
MC1R	D1,R1,R2	rs1805005	16:89919436	G	T	G	Missense (p.R151G)	Independent	T2D [14]
MC2R	R1,R2	rs28926173	18:13886720	G	A	A	Intronic	Independent	Novel
MC3R	D2,R1	rs3746619	20:56248749	C	A	C	5’-UTR	Set01	T2D [14]
MC3R	D2,R1,R2	rs3827103	20:56248973	G	A	G	Missense (p.V44I)	Set01	T2D [14]
MC5R	D2	rs59999658	18:13824728	T	G	T	Intronic	NA	Novel
MC5R	D1,R1	rs2236700	18:13826392	C	G	C	Missense (p.F209L)	Independent	MDD [14]

Legend: ¹Models: D1: dominant, complete penetrance, D2, dominant, incomplete penetrance: R1: recessive, complete penetrance, R2: recessive, incomplete penetrance. LD: linkage-disequilibrium block

ISSN: 1757-2215