Bioinformatics Analyses of Single Nucleotide Polymorphism rs۳۹۸۱۲۲۸۰۷ in THBD gene in Recurrent pregnancy loss (RPL)

Background and Aim: Recurrent pregnancy loss (RPL), which is clinically defined as at least two consecutive pregnancy losses prior to ۲۰ weeks of gestation, is a frequently occurring disease.Although several RPL’s aetiologies have been described,the disease is still classified as idiopathic in more than ۵۰% of cases, which underlines the potential involvement of genetic factors.However, only a few studies have revealed links between specific genetic variants and RPL’s origin.THBD, the endothelial cell receptor for thrombin, has been associated with distinct biological processes and considered a coherent RPL-related candidate gene THBD gene is located in ۲۰p۱۱.۲۱. This gene has one exon and ۲۰۴۵ SNPs which among them ۲ SNPs are pathogenic. rs ۳۹۸۱۲۲۸۰۷ of the THBD gene is located on coding region and is missense mutation (C>A). The protein of THBD gene has ۵۷۵ amino acids. In this study we analyzed the pathogenicity effects of rs ۳۹۸۱۲۲۸۰۷ in THBD geneMethods: In this study we analyzed the pathogenicity effects of rs ۳۹۸۱۲۲۸۰۷ in THBD gene by mutant (A tool for prediction for protein stability changes ), mu pro ( same as imutant predicts protein stability changes) and provean ( Protein variation effect analyzer) prediction databases.Results: . imutant and mu pro databases both predicted that rs ۳۹۸۱۲۲۸۰۷ decreases stability and provean database predict that the SNP is deleterious .Conclusion: In conclusion rs ۳۹۸۱۲۲۸۰۷ of THBD gene reduces protein stability and probably associated with disease in humans.

Keywords:

Recurrent pregnancy loss (RPL) , rs ۳۹۸۱۲۲۸۰۷ , THBD gene , Bioinformatics analyses