Results
| PMID | 28444099 |
| Gene Name | PTPN22 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | PTPN22 (C1858T) |
| Population size | 2152 |
| Population details | 2152 (971 cases and 1,181 controls) |
| Sex | Female |
| Other associated phenotypes |
Endometriosis |
|
Einstein (Sao Paulo). 2017 Jan-Mar;15(1):105-111. doi: Pabalan, Noel| Jarjanazi, Hamdi| Christofolini, Denise Maria| Bianco, Bianca| Barbosa, Caio Parente Cebu Doctors' University, Cebu, CE, Canada.| Ontario Ministry of the Environment and Climate Change, Ontario, ON, Canada.| Faculdade de Medicina do ABC, Santo Andre, SP, Brazil.| Faculdade de Medicina do ABC, Santo Andre, SP, Brazil.| Faculdade de Med Objective: To evaluate PTPN22 C1858T polymorphism and the risk of endometriosis. Methods: A meta-analysis of 10 published case-control studies (from four articles), with a total sample of 971 cases and 1,181 controls, was performed. We estimated risk (odds ratio and 95% confidence intervals) of endometriosis associations with the C1858T polymorphism. Results: A significant increased risk in all genetic models of the variant T allele with endometriosis (odds ratio: 3.14-5.55; p<0.00001-0.002) was found. The analysis without the study whose controls deviated from the Hardy-Weinberg equilibrium exacerbated these effects in the homozygous and recessive models (odds ratio: 7.19-9.45; p<0.00001-0.0002). In the Italian subgroup, a significant risk association was found in the homozygous and recessive models (odds ratio: 8.72-11.12; p=0.002). Conclusion: The associations observed between PTPN22 (C1858T) and the risk of endometriosis suggest this polymorphism might be a useful susceptibility marker for this disease. Objetivo: Avaliar o polimorfismo PTPN22 C1858T e o risco de endometriose. Metodos: Foi realizada uma metanalise de 10 estudos caso-controle publicados (a partir de quatro artigos), com uma amostra total de 971 casos e 1.181 controles. O risco da associacao da endometriose com o polimorfismo C1858T foi estimado em razao de chance e intervalo de confianca de 95%. Resultados: Observou-se um aumento de risco significativo em todos os modelos geneticos com o alelo variante T e a endometriose (razao de chance: 3,14-5,55; p<0,00001-0,002). A analise sem incluir o estudo, em que os controles nao estavam em equilibrio de Hardy-Weinberg, mostrou aumento significativo nos modelos homozigotos e recessivos (razao de chance: 7,19-9,45; p<0,00001-0,0002). No subgrupo italiano, uma associacao significativa foi encontrada considerando os modelos homozigoto e recessivo (razao de chance: 8,72-11,12; p=0,002). Conclusao: As associacoes observadas entre PTPN22 (C1858T) e o risco de endometriose sugerem que este polimorfismo pode ser um marcador de suscetibilidade para a endometriose. Mesh Terms: Case-Control Studies| Endometriosis/*genetics| Female| Gene Frequency| Genetic Association Studies| Humans| *Polymorphism, Genetic| Protein Tyrosine Phosphatase, Non-Receptor Type 22/*genetics| Risk Assessment| Risk Factors|DA 2017/08/30 06:00 |
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