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

Table 2

Candidate genes involved in the etiology of polycystic ovary syndrome related to insulin secretion and signaling.

Gene	Genetic marker(s)	Type of study	Physiologic function	Studied population	Type of polymorphism	References
INS	INS VNTR	Case-control	Insulin secretion	Czech	ND	[65]
INS	INS VNTR	Case-control, family-based association, quantitative trait analyses	Insulin secretion	British/Irish	ND	[66]
INS	−23/Hph I	Case-control	Insulin secretion	Korean	ND	[67]
INS	INS VNTR	Meta-analysis	Insulin secretion	Different	ND	[63]
INS	INS VNTR	Case-control	HOMA-IR	Kashmiri	ND	[64]
INSR	C/T SNP	Case-control	Insulin signaling	American	Exon 17C/T SNP	[68]
INSR	D19S884	Case-control	Insulin signaling	Caucasian	D19S884	[69]
INSR	T/C SNP	Case-control	Insulin signaling	Chinese	T/C SNP	[70]
INSR	Nine SNPs	Case-control	Insulin resistance	Korean	+176477C > T	[13]
INSR	Exon 17 C/T	Case-control	Insulin signaling	Turkish	ND	[71]
INSR	C/T SNP at exon 17	Case-control	Insulin signaling	Chinese	C/T SNP at exon 17	[72]
INSR	C/T polymorphism	Case-control	Insulin signaling	Indian	C/T polymorphism	[73]
INSR	rs1799817, rs2059807, rs8108622, and rs10500204	Family association study	Insulin signaling	Chinese Han	ND	[74]
INSR	rs3786681, rs17253937, and rs2252673	Family-based analysis	Insulin signaling	Chinese Han	rs2252673	[75]
INSR	Susceptibility loci	Case-control	Insulin signaling	Europeans	INSR	[76]
INSR	Genotype and allele frequencies	Case-control	Insulin signaling	Indonesian	ND	[77]
INSR	rs1799817	Case-control	Insulin signaling	Saudi Arabian	Allele T	[78]
INSR	rs2059807 and rs1799817	Case-control	Insulin signaling	Indian	rs2059807 and rs1799817	[79]
INSR	rs2059807	GWAS	Metabolic syndrome and insulin resistance	Han Chinese	rs2059807	[80]
INSR	INSR mutation	Case report	Insulin signaling	Jamaican	p.His1157Gln	[3]
ΙNSR, IRS-1, and IRS-2	Gly972Arg (G972R)	Meta-analysis	Insulin signaling	Different	Gly972Arg (G972R) variant in IRSs	[81]
IRS-1 and IRS-2	Gly972Arg and Gly1057Asp	Meta-analysis	Insulin signaling	Different	Gly972Arg 1	[82]
IRS-2	295 SNPs	Case-control	Insulin signaling	Caucasian	Three SNPs	[83]
THADA	rs13429458	Case-control	Regulation of energy homeostasis	Chinese Hui	ND	[76]
THADA	2p21 chr	Case-control	Regulation of energy homeostasis	European	THADA	[83]
THADA	Susceptibility loci	Case-control	Regulation of energy homeostasis	Europeans	THADA	[76]
THADA	rs13429458, rs12478601, rs13405728, rs10818854, and rs2479106	Family-based analysis	Regulation of energy homeostasis	Chinese Han	rs13429458	[84]
THADA	rs12478601	Case-control	Pancreatic beta-cell function	Iraqi	ND	[85]
THADA	rs13429458	GWAS	Insulin resistance	Han Chinese	rs13429458	[80]
THADA	rs13429458	GWAS	Glucose metabolism	Indian	ND	[86]
THADA	rs13429458	Meta-analysis	Regulation of energy homeostasis	Asian	Minor allele (C)	[87]
THADA	rsl3429458	Case-control	Glucose metabolism	Xinjiang Uygur	Minor allele (T)	[88]
THADA	rs13429458	Meta-analysis	Glucose metabolism	Chinese	rs13429458	[89]
THADA	rs13429458	Case-control	Glucose metabolism	Indian	rs13429458	[90]
MTNR1B	rs10830963 and rs10830962	Case-control	Regulator of circadian rhythms and reproductive processes	Chinese Han	rs10830963	[91]
MTNR1A	rs2119882	Case-control	Regulator of circadian rhythms and reproductive processes	Chinese Han	rs2119882	[92]
MTNR	rs2119882 and rs10830963	Family association study	Regulator of circadian rhythms and reproductive processes	Chinese Han	rs2119882	[93]
MTNR1A MTNR1B	rs2119882 and rs10830963	GWAS	Glycolipid metabolism	Chinese	MTNR1A rs2119882 and MTNR1B rs10830963	[94]
MTNR1A MTNR1B	rs2119882 and rs10830963	Meta-analysis	Insulin resistance	Different populations	MTNR1B rs10830963 and MTNR1B rs2119882	[95]

Abbreviations: GWAS, genome-wide association study; HOMA-IR, homeostatic model assessment for insulin resistance; INS, insulin gene; INSR, insulin receptor; IRS, insulin receptor substrate; MTNR1A, melatonin receptor 1A; THADA, thyroid adenoma associated; ND, no data.