HyungChul Rah1, Young Joo Jeon1, Jung Jae Ko2, Ji Hyang Kim3, Young Ran Kim3, Sun Hee Cha3, Youngsok Choi4, Woo Sik Lee5, Nam Keun Kim6. 1. Department of Biomedical Science, College of Life Science, CHA University, Seongnam, South Korea; Institute for Clinical Research, CHA Bundang Medical Center, CHA University, Seongnam, South Korea. 2. Department of Biomedical Science, College of Life Science, CHA University, Seongnam, South Korea. 3. Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Seongnam, South Korea. 4. Department of Biomedical Science, College of Life Science, CHA University, Seongnam, South Korea; Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, South Korea. 5. Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, South Korea. 6. Department of Biomedical Science, College of Life Science, CHA University, Seongnam, South Korea; Institute for Clinical Research, CHA Bundang Medical Center, CHA University, Seongnam, South Korea. Electronic address: nkkim@cha.ac.kr.
Abstract
OBJECTIVE: The aim of this study was to investigate whether two polymorphisms in the promoter region of inhibin alpha (INHA) are associated with risk of idiopathic primary ovarian insufficiency (POI) in Korean women, which is a controversial topic. STUDY DESIGN: We genotyped the INHA polymorphisms c.-16C>T (rs35118453) and c.-124A>G (rs11893842) of 136 POI patients and 225 controls in Korean women by polymerase chain reaction and restriction fragment length polymorphism analysis. We then compared differences in genotype and allele frequencies (AF) of the polymorphisms between the two groups to determine odds ratios (OR) and 95% confidence intervals (CI) as measures of the strength of association between genotype and POI. RESULTS: There were no significant differences in genotype or AF of the polymorphisms between the POI patients and controls. Haplotype analysis revealed that the T-G haplotype of the two variant alleles was more frequent in POI patients than in the controls (OR=1.630, 95% CI=1.081-2.457). Combination genotype analysis showed that the CT+TT/GG genotype frequency was higher in POI patients than in the controls (OR=2.414, 95% CI=1.190-4.895). CONCLUSIONS: We provide evidence to suggest that when the two variant alleles are combined, the c.-16C>T and c.-124A>G polymorphisms are associated with increased POI risk in Korean women. We postulate that interactions between the INHA polymorphisms may affect POI risk.
OBJECTIVE: The aim of this study was to investigate whether two polymorphisms in the promoter region of inhibin alpha (INHA) are associated with risk of idiopathic primary ovarian insufficiency (POI) in Korean women, which is a controversial topic. STUDY DESIGN: We genotyped the INHA polymorphisms c.-16C>T (rs35118453) and c.-124A>G (rs11893842) of 136 POI patients and 225 controls in Korean women by polymerase chain reaction and restriction fragment length polymorphism analysis. We then compared differences in genotype and allele frequencies (AF) of the polymorphisms between the two groups to determine odds ratios (OR) and 95% confidence intervals (CI) as measures of the strength of association between genotype and POI. RESULTS: There were no significant differences in genotype or AF of the polymorphisms between the POI patients and controls. Haplotype analysis revealed that the T-G haplotype of the two variant alleles was more frequent in POI patients than in the controls (OR=1.630, 95% CI=1.081-2.457). Combination genotype analysis showed that the CT+TT/GG genotype frequency was higher in POI patients than in the controls (OR=2.414, 95% CI=1.190-4.895). CONCLUSIONS: We provide evidence to suggest that when the two variant alleles are combined, the c.-16C>T and c.-124A>G polymorphisms are associated with increased POI risk in Korean women. We postulate that interactions between the INHA polymorphisms may affect POI risk.