The rs2304256, a Non-Synonymous Polymorphism in Tyrosine Kinase 2 Gene is Associated with the Risk of Endometriosis

The objective of the study was to investigate whether the TYK2 gene influences the risk of developing endometriosis in South Indian women. The non-synonymous SNP, rs2304256, in exon8 of the TYK2 gene was tested for association in a case–control study of 150 affected women and 150 women with no evidence of disease. The genotype frequencies of the polymorphism were compared using polymerase chain reaction and restriction fragment length polymorphism. Immunohistochemistry was used to analyze the distribution and expression of TYK2 in the endometrium of women with and without endometriosis. According to codominant, dominant, and recessive genotype models, statistically significant differences were observed in the genotype distribution and allele frequency (P=0.0432) between the cases and controls. The distribution and expression of TYK2 did not vary in the endometrium of cases and controls. In the present study, we could establish an association between the TYK2 rs2304256 non-synonymous polymorphism with the risk of endometriosis in South Indian women, indicating that this polymorphism may lead to significant disease susceptibility.