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. 2023 Mar 18;39(1):18–36. doi: 10.1007/s12291-023-01130-7

Table 2.

Candidate gene studies and the associated pathways involved in the pathogenesis of PCOS

Associated pathway Candidate gene References
Insulin secretion and metabolism INS (Insulin gene) [56, 207]
INSR (Insulin receptor gene) [57, 208]
CAPN10 [209]
IRS1 (Insulin receptor substrate 1) [210]
Fat metabolism FTO gene [58, 59]
MC4R [211]
ADIPOQ [212]
Steroidogenic pathway CYP11a [213, 214]
CYP17 [215, 216]
CYP19 [217]
CYP21 [218]
INSL3 (Insulin-like factor 3) [219]
HSD17B5 (17β-hydroxysteroid dehydrogenase type 5) [220]
Regulation of gonadotropin FSHR [221]
FSHβ [222]
AMHR [223]
LH [224]
AMH [225]
Androgen bioavailability SHBG [60, 226]
Inflammation TNF-alpha [227]
IL-6 gene [228]
Vitamin D VDR [229]