Abstract
ABSTRACTObjective 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.
Highlights
Endometriosis is a condition in which a tissue that is histologically similar to the endometrium, with glands and/or stroma, grows outside the uterine cavity.(1) It is a chronic inflammatory disease and one of the most common benign gynecological disorders
None of them could explain all implantation sites and symptoms, leading researchers to search for new theories which alone or together with the hypotheses already proposed could better explain the etiology of endometriosis
Overall and subgroup effects With a sample of over 1,624 for the protein tyrosine phosphatase encoded by non-receptor 22 (PTPN22) (C1858T) polymorphism, our meta-analysis showed overall increased risk associations of up to 5.6-fold in endometriosis, significant in all genetic models
Summary
Endometriosis is a condition in which a tissue that is histologically similar to the endometrium, with glands and/or stroma, grows outside the uterine cavity.(1) It is a chronic inflammatory disease and one of the most common benign gynecological disorders. It presents multisystem involvement affecting several organs, most commonly in the peritoneum and pelvis, especially the ovaries, and less often in the recto-vaginal septum.(2) This results in pelvic pain, dysmenorrhea, and infertility.(3). Because of the powerful antiinflammatory effect of progesterone, reduced sensitivity to this steroid could contribute to the autoimmune nature of endometriosis.(4,5)
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