Table 2.
Candidate genes involved in etiology of polycystic ovary syndrome (PCOS) related to steroid hormones biosynthesis and functions
| Gene * | Genetic marker (s) | Type of study | Physiologic function | Studied population | Type of polymorphism | Reference |
|---|---|---|---|---|---|---|
| CYP17A1 † | -600C>A -34C>T +723G>A +2612T>C +4259C>T +4444C>G +4994C>T |
GWAS | Steroidogenesis | Korean | Overexpression of A2A2 genotype of the CT variant at -34 bp | (133) |
| CYP17A1 | C/T polymorphism | Cross-sectional study | Steroidogenesis | Indian | No association with IR but associate with androgen levels | (102) |
|
HSD17B6
GATA6 |
rs898611 | Case-control | Steroidogenesis A transcription factor for regulation promoter of CYP17 and CYP11A genes |
Caucasian | rs898611 | (134) |
| HSD17B6 | rs898611 | Case-control | Steroidogenesis | Alabama | rs898611 | (111) |
| CYP19 | rs2470152 | Case-control | Steroidogenesis | Chinese | No association | (82) |
| CYP11a | 5′ UTR pentanucleotide repeat polymorphism | Case-control | Steroidogenesis | Samaritan | 5′ UTR pentanucleotide repeat | (91) |
| CYP11a | Microsatellite (TTTA)n polymorphism | Case-control | Steroidogenesis | South India | (TTTA)n repeat | (96) |
| CYP11a | Nine SNPs | Case-control | Steroidogenesis | Chinese Hainan | “GG” of rs4887139 and genotype “CC” of rs4886595 | (89) |
| CYP11a | Pentanucleotide repeats (TTTA)n | Meta-analysis | Steroidogenesis | Different | (TTTA)n repeat polymorphism | (98) |
| CYP19 | (TTTA)n polymorphism in intron 4 | Case-control | Steroidogenesis | Chinese | No association | (81) |
| 11β-HSD1 | rs12086634 | Case-control | Adrenal Steroidogenesis | Caucasian | G allele | (135) |
|
CYP19
CYP17a |
CYP19 D10S192 |
Case-control | Steroidogenesis | Caucasian | ND | (55) |
| CYP17a | -34T/C polymorphism | Case-control | Steroidogenesis | Chinese Han | Association with testosterone level and HOMA-IR | (101) |
| SHBG | (TAAAA)n repeat polymorphism | Case-control | Steroidogenesis | Greek | Greater frequency of longer (TAAAA)n alleles | (79) |
*
In this table, in addition to 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 polymorphism that are associated with PCOS, have been described.
†
Abbreviations: CYP, cytochrome P450; GATA, transcription factors that bind to the DNA sequence (A/T) GATA (A/G); HSD, hydroxysteroid dehydrogenase; IR, insulin resistance; ND, no data; SHBG, sex hormone-binding globulin; homeostatic model assessment for insulin resistance (HOMA-IR).