The glucocorticoid receptor gene (NR3C1) is linked to and associated with polycystic ovarian syndrome in Italian families

Table 1 Polycystic Ovarian Syndrome (PCOS) NR3C1-Risk Single Nucleotide Polymorphisms (SNPs)

Model¹	SNP	Position	Ref	Alt	Risk Allele	Consequence	LD block	Reported in PCOS or related phenotypes/traits?*
D1, R1	rs10482672	143312968	G	A	G	Intronic	Independent	Novel
D1, R1, R2	rs11749561	143412112	T	C	T	Intronic	NA	Novel

¹Models: D1: dominant, complete penetrance, R1: recessive, complete penetrance, R2: recessive, incomplete penetrance. *The PCOS related phenotypes are: metabolic syndrome, hyperglycemia, irregular menses, anovulation, infertility, oligomenorrhea, obesity, insulin resistance, T2D, hyperandrogenism, hirsutism

ISSN: 1757-2215