The role of polymorphism in various potential genes on polycystic ovary syndrome susceptibility and pathogenesis

Chaudhary, Hiral; Patel, Jalpa; Jain, Nayan K.; Joshi, Rushikesh

doi:10.1186/s13048-021-00879-w

Journal of Ovarian Research

Table 1 Candidate gene polymorphism associated with the pathogenesis of Polycystic ovary syndrome

From: The role of polymorphism in various potential genes on polycystic ovary syndrome susceptibility and pathogenesis

Gene	Polymorphism	Studied population	Physiological function	Reference
CYP11A	5’UTR (TTTTA)n pentanucleotide repeat	Samaritan	Hirsutism	[35]
	(TTTTA)_n Microsatellite	Caucasian	Hyperandrogenism	[41]
	(TTTTA)_n Microsatellite	Greek	Hyperandrogenism	[42]
	(TTTTA)_n Pentanucleotide repeat	Different	Hyperandrogenism	[43]
CYP17	-34 T/C polymorphism	British	Hyperandrogenism Insulin resistance	[44]
		American		[44]
		Korean		[44]
		Chinese		[45]
		Thai		[44]
		Indian		[46]
		Turkish		[47]
CYP19	rs2414096 polymorphism	African	Hyperandrogenism	[48]
		American	Hyperandrogenism	[48]
		Caucasian	Decreased aromatase activity	[48]
		Chinese	Decreased aromatase activity	[49]
		Iranian	Increased E2 to T ratio	[50]
		Indian		[51]
		Iraqi		[52]
		Egyptian		[53]
		Japanese		[48]
		Chinese		[54]
	(TTTA)n Tetranucleotide repeat polymorphism	Greek	Hyperandrogenism	[55]
	(TTTA)n Tetranucleotide repeat polymorphism	Han Chinese	Hyperandrogenism	[56]
17βHSD	−71 A/G polymorphism	Greece	Hyperandrogenism	[57]
		Caucasian		[58]
		African-American		[59]
		Spanish		[60]
SHBG	TAAAA repeat Polymorphism	French	Hirsutism	[61, 62]
		Greek	Late menarche	[63]
		Croatian	Decrease SHBG level	[64]
		Slovenian	Decrease SHBG level	[65]
	rs1799941 & rs 727,428	Chinese	Insulin resistance	[66]
	rs1799941 & rs 727,428	American	Insulin resistance	[67]
	D327N	Mediterranean	Hirsutism	[68]
	D327N	French	Androgen excess	[62]
	E326K	Turkey	Metabolism of SHBG	[69]
AR	Short CAG repeat	Chinese	Hyperandrogenism	[70]
		Caucasian	Increased androgen sensitivity	[71]
		Caucasian	Increased androgen sensitivity	[72, 73]
	GGN polymorphism	Chinese	Hyperandrogenism	[74]
INSR	C/T polymorphism	Caucasian	Insulin resistance	[75]
		Chinese		[76]
		Korean		[77]
LHCGR	rs13405728	Han Chinese	Hyperandrogenism	[78]
LHCGR	S312N	Sardinian	Hyperandrogenism	[79]
FSHR	rs6165	Turkish		[47]
	rs 6166	Italian		[80]
		Korean		[81]
		Chinese	Difference in FSH & PRL levels	[82, 83]
	rs2268361	Chinese	Folliculogenesis	[39]
GnRHR	rs104893836	Israeli		[84]
IL-1	rs1800587	Turkish	Biochemical, hormonal changes	[85]
		Caucasian		[86]
		Caucasian		[86]
	rs16944	Chinese		[87]
PPARG	Pro12Ala	Korean	Abdominal obesity	[88]
			Metabolic dysfunction
			BMI
		European	BMI	[89]
		Asian		[89]
		Caucasian	Insulin resistance Hirsutism	[90,91,92,93,94]
VDR	rs1544410, rs7975232	South Indian	Biochemical, metabolic, endocrine parameters	[95]
	rs1544410, rs7975232	Iranian		[96, 97]
	rs10735810, rs731236	Turkish		[98]
	rs757343	Austrian		[99]
FTO	rs9939609	Chinese	Obesity	[100, 101]
		UK		[102]
		Finland		[102]
		South Brazilian		[103]
		Caucasian		[104]
		East Asian		[104]
ACE	ACE I/D polymorphism	Caucasian	Hyperandrogenism	[105]
		Chinese		[106]
		Turkey		[107, 108]

In addition, the name of the genes, the physiologic function affected by the genes, the studied population, and the type of single nucleotide polymorphisms or polymorphisms related with PCOS are detailed in this Table 1
Abbreviations: 17βHSD 17β-Hydroxysteroid Dehydrogenase, SHBG Sex hormone binding globulin, AR Androgen receptor, INSR Insulin receptor, FSHR Follicle stimulating hormone receptor, GnRHR Gonadotropin releasing hormone receptor, LHCGR Luteinizing hormone/chorionic gonadotropin receptor, IL-1 Interleukin-1, PPARG Peroxisome Proliferator Activated Receptor Gamma, VDR Vitamin D receptor, FTO Fat Mass and Obesity-Associated Protein, ACE Angiotensin Converting Enzyme

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ISSN: 1757-2215

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