Pathophysiologic Mechanisms of Insulin Secretion and Signaling-Related Genes in Etiology of Polycystic Ovary Syndrome

Table 1

Candidate genes involved in etiology of polycystic ovary syndrome related to insulin resistance and type 2 diabetes mellitus.

Gene	Genetic marker(s)	Type of study	Physiologic function	Studied population	Type of polymorphism	References
ADIPOQ, RETN	SNPs at position −420 of the RETN and/or −11377 of the ADIPOQ	Case-control	Insulin resistance and obesity	Japanese	RETN−420G/G	[29]
ADIPOQ	rs1501299, rs2241766, and rs266729	Case-control	Insulin resistance	Jordanian	G allele	[31]
ADIPOQ	rs17300539, rs266729, rs822395, rs822396, rs2241766, rs1501299, rs2241767, rs3774261, and rs17366743	Case-control	Insulin resistance	Saudi Arabian	rs2241766, rs1501299, rs2241767, rs3774261, and rs17366743	[35]
ADIPOQ	SNPs	Case-control	Modulating insulin sensitivity	Minia	Higher genotyping distributions of TG, GG, and TT	[27]
ADIPOQ	T45G and G276T	Meta-analysis	Insulin resistance, obesity, and T2DM	Asian	G276T	[34]
ADIPOQ	rs1501299	Case-control	Lipid profile	Polish	GG	[32]
CAPN10	UCSNP-44, UCSNP-43, UCSNP-19, and UCSNP-63	Case-control	Ca-mediated intracellular signaling, and insulin secretion	Spanish	UCSNP-44	[36]
CAPN10	CAPN10 haplotypes	Haplotype-phenotype correlation	Ca-mediated intracellular signaling, and insulin secretion	Spanish	UCSNP-44	[37]
CAPN10	SNPs	Meta-analysis, meta-regression	Ca-mediated intracellular signaling, and insulin secretion	Asian	UCSNP-19, UCSNP-63, and UCSNP-45	[38]
CAPN10	UCSNP-43, UCSNP-44, UCSNP-19, and UCSNP-63	Cross-sectional population-based	Ca-mediated intracellular signaling, and insulin secretion	Spanish	UCSNP-44, UCSNP-43, and UCSNP-19	[39]
CAPN10	UCSNP-43, UCSNP-19, and UCSNP-63	Case-control	Ca-mediated intracellular signaling, and insulin secretion	Chilean	UCSNP-43	[40]
CAPN10	UCSNP-43, UCSNP-19, and UCSNP-63	Cross-sectional	Ca-mediated intracellular signaling, and insulin secretion	Brazilian	UCSNP-43	[41]
CAPN10	UCSNP-44, UCSNP-43, UCSNP-56, UCSNP-19, and UCSNP-63	Case-control	Ca-mediated intracellular signaling, and insulin secretion	Indian	UCSNP-44	[42]
CAPN10	UCSNP-43 and rs3792267	Case-control	Ca-mediated intracellular signaling, and insulin secretion	Greek	UCSNP-43	[43]
CAPN10	UCSNP-43 and rs3792267	Case-control	Ca-mediated intracellular signaling, and insulin secretion	Indian	ND	[44]
CAPN10	UCSNP-19, UCSNP-63, UCSNP-44, and UCSNP-43	Meta-analysis	Ca-mediated intracellular signaling, and insulin secretion	Different populations	UCSNP-19 and UCSNP-63	[45]
PPAR-γ	Gly482Ser, PPAR-α Leu162Val, PPAR-δ rs2267668A/G, PPAR-δ−87T/C, PPAR-γ2 Pro12Ala, and PPAR-γ2-−681C/G	Case-control, meta-analysis	Glucose homeostasis, lipid metabolism, transport, and storage	Caucasian	Gly482Ser and Pro12Ala	[46]
PPAR-γ	Pro12Ala	Meta-analyses	Glucose homeostasis, lipid metabolism, transport, and storage	Different population	Pro12Ala	[47]
PPAR-γ2	Pro12Ala	Case-control	Glucose homeostasis, lipid metabolism, transport, and storage	Chinese	ND	[48]
PPAR-γ2	Pro12Ala	Case-control	Glucose homoeostasis, lipid metabolism, and adipocyte differentiation	South Indian	Pro12Ala	[49]
PPAR-γ	Pro12Ala (exon 2) and His447His (exon 6)	Case-control	Insulin resistance and adiposity	Southern Mediterranean	Pro12Ala (exon 2)	[50]

Abbreviations: ADIPOQ, adiponectin; CAPN10, calpain 10; PPAR-γ, peroxisome proliferator-activated receptor-gamma; ND, no data.