Epistasis between FSHR and CYP19A1 polymorphisms is associated with premature ovarian failure.
Follicle-stimulating hormone secreted from the pituitary gland plays a key role in human reproduction and regulates estrogen production by acting on the regulatory region of CYP19A1. We observed a significant association between premature ovarian failure and the combined genetic effect of single nucleotide polymorphism (SNP) rs4646 (CA+AA) in the 3' untranslated region of CYP19A1 and the missense FSHR SNP rs6166 (AG+GG) genotype (odds ratio 5.42, 95% confidence interval 1.96-14.98), and we identified a significant association between premature ovarian failure and the combined genetic effect of the FSHR missense SNP rs6166 (AA) and the rs4646-rs10046 haplotype (C-T)+(C-C) (odds ratio 5.47, 95% confidence interval 2.03-14.75), suggesting that two biochemical pathways may be involved in the regulation of folliculogenesis.
Department of Biomedical Science, College of Life Science, CHA University, Seongnam, South Korea.
Sunshin
S
Kim
Jung-A
JA
Pyun
Dong Hyun
DH
Cha
Jeong-Jae
JJ
Ko
KyuBum
K
Kwack
D020413:3' Untranslated Regions; D001141:Aromatase / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D004843:Epistasis, Genetic; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D020125:Mutation, Missense; D016017:Odds Ratio; D010053:Ovary / Q000503:physiopathology*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D016649:Primary Ovarian Insufficiency / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D011962:Receptors, FSH / Q000235:genetics*; D056910:Republic of Korea; D018570:Risk Assessment; D012307:Risk Factors
D020413:3' Untranslated Regions; D011962:Receptors, FSH; D001141:Aromatase