Results
| PMID | 23000200 |
| Gene Name | TYK2 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | TYK2 polymorphisms (rs34536443, rs2304256, rs280523, rs12720270 and rs12720356) |
| Population size | 674 |
| Population details | 674 (275 infertile women with endometriosis, 92 women with idiopathic infertility and 307 fertile women as controls) |
| Sex | Female |
| Infertility type | Female infertility |
| Associated genes | TYK2 |
| Other associated phenotypes |
Endometriosis-related infertility |
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Hum Immunol. 2013 Jan;74(1):93-7. doi: 10.1016/j.humimm.2012.09.007. Epub 2012 Peluso, Carla| Christofolini, Denise M| Goldman, Cecilia S| Mafra, Fernanda A| Cavalcanti, Viviane| Barbosa, Caio P| Bianco, Bianca Human Reproduction and Genetics Center, Department of Gynecology and Obstetrics, Faculdade de Medicina do Santo Andre, Sao Bernardo do Campo and Sao Caetano do Sul County, Santo Andre, Brazil. INTRODUCTION: Tyrosine kinase 2 gene (TYK2) is part of the janus kinase (JAK) that binds to the type I interferon-alpha receptor (IFNAR) on the cell surface of IFN-producing cells, and have crucial importance in the etiology of autoimmune and inflammatory diseases. Many polymorphisms of the TYK2 gene have been identified, and recently, a number of case-control studies were conducted to investigate the association of these polymorphisms with autoimmune and inflammatory diseases, with conflicting results. Based on these observations, we hypothesized that the TYK2 polymorphisms (rs34536443, rs2304256, rs280523, rs12720270 and rs12720356) might be involved in the pathogenesis of endometriosis and/or infertility. METHODS: Genetic association study comprising 275 infertile women with endometriosis, 92 women with idiopathic infertility and 307 fertile women as controls. TYK2 polymorphisms were identified by TaqMan PCR. Genotype distribution, allele frequency and haplotype analysis of the TYK2 polymorphisms were performed. A p-value <0.05 was considered significant. RESULTS: Single-marker analysis revealed that TYK2 rs34536443 was significantly associated with protection against endometriosis-related infertility, especially in moderate/severe disease (p = 0.002; OR = 0.24, 95% IC = 0.09-0.62). No difference was found considering the infertile group without endometriosis. No associations were found considering rs2304256, rs280523, rs12720270 and rs12720356 either for endometriosis-related infertility group or idiopathic infertility group. Haplotype analysis of five TYK2 polymorphisms identified a haplotype "CTATG" associated with protection against endometriosis-related infertility, especially in moderate/severe disease (p = 0.027). CONCLUSION: This is the first study to report an association between TYK2 polymorphisms and endometriosis and/or infertility. These findings require replication in other populations but suggest the TYK2 rs34536443 polymorphisms and "CTATG" haplotype can be associated with a decreased susceptibility to endometriosis-related infertility in Brazilian women. Mesh Terms: Adult| Alleles| Brazil| Case-Control Studies| Endometriosis/*genetics/pathology| Female| Gene Frequency| Genetic Predisposition to Disease| Haplotypes| Humans| Infertility, Female/*genetics/pathology| Middle Aged| *Polymorphism, Single Nucleot |
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