Results
| PMID | 25154675 |
| Gene Name | WNT4 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | CDKN2B-AS (rs10965235), WNT4 (rs16826658) |
| Population size | 1173 |
| Population details | 1173 (673 cases of endometriosis, 500 controls) |
| Sex | Female |
| Associated genes | WNT4, CDKN2B-AS |
|
Fertil Steril. 2014 Nov;102(5):1393-7. doi: 10.1016/j.fertnstert.2014.07.1237. Lee, Gyoung Hoon| Choi, Young Min| Hong, Min A| Yoon, Sang Ho| Kim, Jin Ju| Hwang, Kyuri| Chae, Soo Jin I-one Center, Seoul Women's Hospital, Bucheon, South Korea.| Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, South Korea; The Institute of Reproductive Medicine and Population, Medical Research Center, Seo OBJECTIVE: To investigate whether specific genetic polymorphisms in the cyclin-dependent kinase inhibitor 2B antisense RNA (CDKN2B-AS) gene and near the wingless-type MMTV integration site family member 4 (WNT4) gene are associated with endometriosis in a Korean population. DESIGN: Case-control genetic association study. SETTING: University. PATIENT(S): Surgically or histologically diagnosed cases of endometriosis (n=673) and controls (n=500) among a population of ethnic Koreans. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Genotype distribution and synergistic interaction. RESULT(S): Significant differences were found in the allele distributions of the CC genotype of the rs10965235 single-nucleotide polymorphism (SNP) of the CDKN2B-AS gene and the GG genotype of the rs16826658 SNP on chromosome 1p36 between the endometriosis cases and the controls (rs10965235: 69.7% CC, 26.9% CA, and 3.4% AA vs. 59.2% CC, 35.2% CA, and 5.6% AA; rs16826658: 33.7% GG, 48.4% GT, and 17.8% TT vs. 25.6% GG, 49.8% GT, and 24.6% TT, respectively). A significant interaction was not found between the CC genotype of the rs10965235 SNP and the GG genotype of the rs16826658 SNP after Bonferroni correction (32.8% of CC+GG and 67.2% of CC+non-GG in the endometriosis cases vs. 25.0% of CC+GG and 75.0% of CC+non-GG in the controls). CONCLUSION(S): Our results suggest that the rs10965235 SNP in the CDKN2B-AS gene and the rs16826658 SNP near the WNT4 gene were significantly associated with endometriosis in this Korean population. Mesh Terms: Adult| Endometriosis/*epidemiology/*genetics| Female| Genetic Association Studies| Genetic Markers/genetics| Genetic Predisposition to Disease/*epidemiology/*genetics| Humans| Middle Aged| Mutation/genetics| Polymorphism, Single Nucleotide/*genet |
|