Results
| PMID | 11883743 |
| Gene Name | CA2 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | IL-10 (Polymorphisms at position -1082 and -592), CA II (-592*CC genotype, -592*C allele) |
| Population size | 356 |
| Population details | 356 (96 patients with endometriosis, 160 fertile healthy women) |
| Sex | Female |
| Associated genes | carbonic anhydrase II, IL-10 |
| Other associated phenotypes |
Endometriosis |
|
Am J Reprod Immunol. 2002 Jan;47(1):12-8. Kitawaki, Jo| Obayashi, Hiroshi| Ohta, Mitsuhiro| Kado, Noriko| Ishihara, Hiroaki| Koshiba, Hisato| Kusuki, Izumi| Tsukamoto, Katsumi| Hasegawa, Goji| Nakamura, Naoto| Yoshikawa, Toshikazu| Honjo, Hideo Department of Obstetrics and Gynecology, Kyoto Prefectural University of Medicine, Japan. kitawaki@koto.kpu-m.ac.jp PROBLEM: Interleukin-10 (IL-10) is an important immunomodulatory cytokine. The aim of this study was to investigate whether polymorphisms of the IL-10 gene promoter polymorphisms may be responsible in part for genetic susceptibility to endometriosis. METHODS OF STUDY: Polymorphisms at position -1082 and -592 in the IL-10 promoter region were determined in 196 patients with endometriosis and 160 fertile healthy women by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP). RESULTS: There were no statistically significant differences in the genotype and allele frequencies of IL-10 promoter polymorphism between the endometriosis and control groups. However, when subgrouped according to clinical features, the frequencies of the -592*CC genotype and -592*C allele were significantly increased in patients with autoantibodies to carbonic anhydrase II (anti-CA II ab) compared with controls. CONCLUSION: IL-10 promoter polymorphisms were associated with the production of anti-CA II ab in patients with endometriosis, suggesting a role in the genetic susceptibility for endometriosis. Mesh Terms: Adult| Alleles| Autoantibodies/blood| Carbonic Anhydrase II/immunology| Case-Control Studies| Endometriosis/*genetics/*immunology| Female| Gene Frequency| Genotype| Humans| Interleukin-10/*genetics| Middle Aged| Polymerase Chain Reaction| *Po |
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