Aim: To unveil and evaluate the association and analyze the incidence and pattern of PGR gene polymorphisms (PROGINS insertion and PGR exon 5-C/T polymorphism) in recurrent pregnancy loss (RPL) couples of Kashmir. Methods: In this study, analyses of PGR gene polymorphisms in RPL couples were genotyped by amplificationrefractory mutation system polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism. Results: Molecular analysis of PGR gene polymorphisms indicated that the genotypic and allelic frequencies of PROGINS insertion and PGR exon 5 C/T polymorphisms of female group in cases and controls to be significantly different and poses risk in predisposition to RPL. Moreover, haplotype analysis in female group revealed that P1P2/CC and P1P2/CT genotype are significantly associated with RPL. Conclusion: Our data indicate that the PROGINS insertion and exon 5-C/T polymorphism can act as useful genetic markers in the female group, but needs to be replicated in further studies including various other single nucleotide polymorphisms of PGR gene relevant to pregnancy loss which may contribute to novel therapeutic targets with improved conclusions.
Non-Alcoholic Fatty Liver Disease (NAFLD) is a clinical condition defined by excessive fat accumulation in the liver in the form of triglycerides involving more than 5% of hepatocytes. The present study was carried out with an aim to evaluate the association of demographic features, liver enzymes, serum lipid profile and APOC3 gene variants (C-482T and T-455C). A case-control study was designed with 150 patients with NAFLD, and 180 healthy controls. The mutations were analyzed using PCR-RFLP approach, Case-control studies assessing the relationship between APOC3 rs2854116 C/C and rs 2854117 C/T gene polymorphism with non-alcoholic fatty liver disease. Statistically significant increased frequencies of CC+CT genotype [OR, 2.00; 95 percent C. I (1.18-3.40); P.0006] [OR, 2.00; 9.5 percent C.I (1.38-2.91); P value < 0.0002] and the C allele is seen in NAFLD patients compared to healthy controls. In conclusion, we found that the APOC3 gene and elevated triglyceride levels in -455C/C SNP is significantly associated with the risk of NAFLD, whereas the Apoc3-482C/T showed no association.
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