mir-126 rs4636297 and TGFβRI rs334348 functional gene variants are associated with susceptibility to endometriosis and its severity

Sepahi N, Neda Sepahi, Kohan L, Leila Kohan, Athar Rasekh Jahromi, Jahromi AR, Daneshbod Y, Yahya Daneshbod, Hoveidi EN, Elahe Nimi Hoveidi
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology · 2017 · vol. 33(6) , pp. 429–432 · doi:10.1080/09513590.2017.1290064 · PMID:28277133 · W2589352112
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The *mir*-126 rs4636297 and *TGF*β*RI* rs334348 polymorphisms were associated with altered susceptibility to endometriosis and its severity in a case-control study.

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Abstract

microRNAs (miRNAs) are negative regulators in a variety of cellular processes that occur in endometriosis. Therefore, functional polymorphisms in miRNA and miRNA binding sites may affect gene expression and contribute to susceptibility of endometriosis. In this study, we evaluated the association of two miRNA related polymorphisms, mir-126 rs4636297 and TGFβRI rs334348, with endometriosis risk and its severity. This case-control study was done on 157 endometriosis patients and 252 healthy women as a control group. Tetra amplification refractory mutation system-polymerase chain reaction (tetra-ARMS PCR) was designed to determine the polymorphisms. Our finding showed significant differences in genotype frequency of mir-126 rs4636297 between the groups (χ2 = 6.26, p = 0.044). A significant protection against endometriosis was found for mir-126 rs4636297 in allele (G versus A allele: OR = 0.695, 95% CI = 0.519-0.931, p = 0.015) and genotype (GG versus AA genotype: OR = 0.451, 95%CI = 0.233-0.873, p = 0.018). Significant association was also observed between the A allele and severity of endometriosis (OR = 0.478, 95%CI = 0.297-0.768, p = 0.002). Moreover, we found a significant association between AA genotype with the risk of endometriosis (OR = 0.493, 95%CI = 0.250-0.970, p = 0.041) and its severity (OR = 0.240, 95%CI = 0.065-0.883, p = 0.032) regarding TGFβRI rs334348 polymorphism. These finding suggest that, for the first time, mir-126 rs4636297 and TGFβRI rs334348 polymorphisms may influence individual's susceptibility to endometriosis and its severity.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis MicroRNAs Protein Serine-Threonine Kinases Receptors, Transforming Growth Factor beta Adult Adult Case-Control Studies Case-Control Studies Endometriosis Endometriosis Female Female Genetic Predisposition to Disease Genetic Predisposition to Disease Humans Humans MicroRNAs MicroRNAs Polymorphism, Single Nucleotide Polymorphism, Single Nucleotide

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