Results
| PMID | 22417007 |
| Gene Name | MUC2 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | MUC2 (rs2856111, rs11245936, rs10794288, rs10902088, rs7103978 and rs11245954) |
| Population size | 391 |
| Population details | 391 (195 endometriosis patients, 196 healthy controls) |
| Sex | Female |
| Infertility type | Female infertility |
| Associated genes | MUC2 |
| Other associated phenotypes |
Endometriosis, Endometriosis related infertility |
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BMC Med Genet. 2012 Mar 15;13:15. doi: 10.1186/1471-2350-13-15. Chang, Cherry Yin-Yi| Chen, Yi| Lin, Wu-Chou| Chen, Chih-Mei| Chen, Chih-Ping| Lee, Shan-Chih| Sheu, Jim Jinn-Chyuan| Tsai, Fuu-Jen Department of Obstetrics and Gynecology, China Medical University Hospital, 2 Yude Road, 40402 Taichung, Taiwan. BACKGROUND: Mucins are highly glycosylated proteins protecting and lubricating epithelial surface of respiratory, gastrointestinal and reproductive tracts. Members of the mucin protein family have been suggested to play an important role in development of endometriosis and infertility. This study investigates genetic association of mucin2 (MUC2) with the risk of endometriosis and endometriosis-related infertility. METHODS: This case-control study was conducted at China Medical University Hospital, with 195 endometriosis patients and 196 healthy controls enrolled. Genotyping of six SNPs (rs2856111, rs11245936, rs10794288, rs10902088, rs7103978 and rs11245954) within MUC2 gene were performed by using Taqman genotyping assay; individual SNP and haplotype associations with endometriosis and endometriosis-related infertility were assessed by chi(2) test. RESULTS: Endometriosis patients exhibit significantly lower frequency of the rs10794288 C allele, the rs10902088 T allele and the rs7103978 G allele (P = 0.030, 0.013 and 0.040, respectively). In addition, the rs10794288 C allele and the rs10902088 T allele were also less abundant in patients with infertility versus fertile ones (P = 0.015 and 0.024, respectively). Haplotype analysis of the endometriosis associated SNPs in MUC2 also showed significantly association between the most common haplotypes and endometriosis or endometriosis-related infertility. CONCLUSIONS: MUC2 polymorphisms, especially rs10794288 and rs10902088, are associated with endometriosis as well as endometriosis-related infertility. Our data present MUC2 as a new candidate involved in development of endometriosis and related infertility in Taiwanese Han women. Mesh Terms: Case-Control Studies| Endometriosis/*genetics| Female| Gene Frequency| *Genetic Predisposition to Disease| Genotype| Humans| Infertility/*genetics| Mucin-2/*genetics| *Polymorphism, Genetic| Polymorphism, Single Nucleotide|DA 2012/06/19 06:00 |
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