Results
| PMID | 20560917 |
| Gene Name | PPARG |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | PPAR-G2 (P12A) |
| Population size | 873 |
| Population details | 873 (446 patients, 427 controls) |
| Sex | Female |
| Associated genes | PPAR-G2 |
| Other associated phenotypes |
Endometriosis |
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Am J Reprod Immunol. 2010 Nov;64(5):333-8. doi: 10.1111/j.1600-0897.2010.00882.x. Hwang, Kyu Ri| Choi, Young Min| Kim, Jong Mee| Lee, Gyoung Hoon| Kim, Jin Ju| Chae, Soo Jin| Moon, Shin Yong Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Korea. PROBLEM: To investigate whether the peroxisome proliferator-activated receptor (PPAR)-gamma2 Pro12Ala polymorphism is associated with a risk of advanced-stage endometriosis in a Korean population. METHODS OF STUDY: Case-control study in a collective of 446 patients and 427 controls. The Pro12Ala polymorphism of PPAR-gamma2 gene was genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis. RESULTS: The distribution of the PPAR-gamma2 Pro12Ala polymorphism was different between the advanced-stage endometriosis group and the control group (non-CC rates were 5.2% for patients with advanced endometriosis and 10.1% for the control group, respectively, P = 0.006). The frequency for the Ala-12 allele variant was significantly lower in patients with advanced stage of endometriosis (2.7%) than in the control group (5.3%) (P = 0.006). CONCLUSION: These findings suggest that the PPAR-gamma2 Pro12Ala polymorphism is associated with advanced-stage endometriosis in the Korean population. Unlike results from other studies reported so far, the Ala-12 allele may have protective effects against advanced-stage endometriosis in the Korean population. Mesh Terms: Alleles| Case-Control Studies| Chi-Square Distribution| DNA/chemistry/genetics| Endometriosis/*genetics/immunology| Female| Genetic Variation| Humans| PPAR gamma/*genetics/immunology| Polymerase Chain Reaction| Polymorphism, Restriction Fragment |
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