Table1.
Candidate genes involve in etiology of polycystic ovary syndrome (PCOS) related to gonadotropin secretion and actions
| Gene * | Genetic marker(s) | Type of study | Physiologic function | Studied population | Type of polymorphism | Reference |
|---|---|---|---|---|---|---|
| GnRHR † | rs104893836 | GWAS | Regulation of gonadotropin secretion | Israeli | ND | (35) |
| GnRHR | 3′-UTR variant | GWAS | Regulation of gonadotropin secretion Stimulation of TSH secretion Insulin activity |
Chinese Han | rs1038426 | (37) |
| LHβ | Trp28Arf/Ile35Thr LHβ variant | Case-control | Steroidogenesis regulation | Brazilian | rs1800447 rs34349826 Trp28Arg Ile35Th |
(127) |
| LHβ | G1502A | Case-control | Steroidogenesis regulation | Egyptian | G1052A | (128) |
| FSHβ | chr 8p32.1 chr11p14.1 chr 9q22.32 |
GWAS | Folliculogenesis | European | chr 11p14.1 SNP rs11031006 |
(39) |
| FSHβ | Susceptibility loci 8p32.1 11p14.1 9q22.32 rs11031010 |
GWAS | Folliculogenesis | Chinese Han | rs11031010 | (33) |
|
FSHR
FSHβ LHCGR LHβ ESR1 ESR2 |
Genotype and allele frequencies and SNPs | Case-control | Steroidogenesis regulation Folliculogenesis Ovulation and female phenotypes |
Pakistani | LHCGR FSHR ESR1 |
(129) |
| LHCGR | 2p16.3 | Case-control | Steroidogenesis regulation | European | No association | (48) |
| LHCGR | rs13405728 | Case-control | Steroidogenesis regulation | Caucasian | No association | (49) |
| LHCGR | G935A, and ins18LQ | Case-control | Steroidogenesis regulation | Egyptian | G935A | (128) |
| LHCGR | G935A | Case-control | Steroidogenesis regulation | Egyptian | G935A | (130) |
| LHCGR | rs2293275 | Case-control | Steroidogenesis regulation | Indian | rs2293275 | (131) |
| FSHR | rs12994034 | Case-control | Folliculogenesis | European | Yes | (23) |
| FSHR | Thr307Ala Asn680Ser |
Meta-analysis | Folliculogenesis | Different | No association | (44) |
| FSHR | rs1394205 rs6165 rs6166 |
Case-control | Folliculogenesis | South Indian | rs6166 | (45) |
| FSHR | rs2268361-T | Case-control | Folliculogenesis | European Greek |
rs2268361-T in an intron of FSHR | (46) |
|
FSHR
LHCGR |
rs11692782 rs7371084 rs4953616 |
Case-control | Folliculogenesis Ovulation |
Bahraini Arab | Differential association of LHCGR and FSHR variants with PCOS due to racial/ ethnic contribution |
(30) |
| FSHR | Ala307Thr polymorphism | Cross-sectional | Folliculogenesis | Egyptian | Ala307Thr | (43) |
| FSHR | Thr307Ala and Asn680Ser polymorphism | Meta-analysis | Folliculogenesis | Different | Asn680Ser | (47) |
| FST | rs1423560 rs3797297 rs11745088 rs3203788 rs1062809 rs1127760 rs1127761 |
Case-control | Development of ovarian follicles Antagonist to aromatase activity Specific inhibitor of FSH |
Caucasian | SNP rs3797297 associated with androgenic markers | (54) |
| FST | D5S474 D5S623 D5S822 |
Case-control | Follicular development | Caucasian | ND | (55) |
| FST | Presence of mutations | Case-control | Follicular development | South Indian | ND | (56) |
| GDF9 | c. 1–8C>T 199A>C 205C>T 646G>A 1353C>T 398–39C>G 447C>T 546G>A 436C>T 588A>C 712A>G 1283G>C 392–393insT 1268–1269delAA 307C>T 362C>T 1121C>T 1360C>T |
Case-control | Early follicle growth and fertility | Chinese Han | c.15C>G c.118T>G c.133A>G c.1025A>T c.1275C>A |
(132) |
In this table, in addition the name of genes, type of evaluated polymorphism of genes, type of study, physiologic function affected by genes, studied population, and type of single nucleotide polymorphisms or polymorphisms that are associated with PCOS, have been described.
Abbreviations: ESR, estrogen receptor; FSH, follicle stimulating hormone; FSHR, follicle stimulating hormone receptor; FST, follistatin; GDF9, growth/differentiation factor 9; GnRHR, gonadotropin releasing hormone receptor; GWAS, genome-wide association study; LH, luteinizing hormone; LHCGR, luteinizing hormone/chorionic gonadotropin receptor; ND, no data; TSH, thyroid stimulating hormone