Gene/Locus

Known Role in PCOS

Relevance to Consanguinity/Autozygosity

DENND1A

Hyperandrogenism, gonadotropin exocytosis, ovarian function

Part of polygenic risk, variants associated with PCOS susceptibility in various ethnicities

THADA

Energy metabolism, obesity, insulin resistance

Part of polygenic risk, associated with dysfunctions in energy metabolism

LHCGR

Luteinizing hormone/choriogonadotropi n receptor, ovarian function, androgen secretion

Part of polygenic risk, overexpression in PCOS

FSHR

Follicle-stimulating hormone receptor, ovarian function

Part of polygenic risk, variants investigated for PCOS susceptibility

INSR

Insulin receptor, insulin resistance, ovarian androgen production

Part of polygenic risk, under expression in metabolic tissues, overexpression in ovary

BRCA1

DNA repair, tumor suppressor, ovarian function

Specific association with PCOS in consanguineous cohorts, potential influence on ovarian dysfunction

CYP11a

Steroidogenesis (cholesterol to progesterone)

Reported association with PCOS, though replication varies

CYP21

Steroidogenesis (17-

hydroxyprogesterone to 11- deoxycortisol)

Heterozygous association with PCOS- like hyperandrogenemia

CYP17

Steroidogenesis (pregnenolone/progesterone to 17-hydroxy forms), androgen levels

Increased expression in theca cells, polymorphism associated with PCOS

CYP19

Aromatase p450, estrogen formation

Lower activity reported in PCOS

AR

Androgen receptor, androgen effects

Mutations/disruptions reported to cause PCOS, on X chromosome

SHBG

Sex hormone-binding globulin, controls sex hormone levels

Lower in PCOS due to hyperinsulinemia, variants investigated

CD93, CYBB, DOCK8, IRF1, MBOAT1, MYO1F, NLRP1, NOD2, PIK3R1, PTER

Various roles (e.g., cytokine production, TNF signaling)

Identified as "hub genes" in recent bioinformatics analyses, causal relationship with PCOS risk