Association of Reduced Folate Carrier (RFC) Gene Polymorphism with Colorectal Cancer Susceptibility In Kashmir.

Folate, important cofactorin one carbon moiety transfer, has been a factor that may modulate the development of colorectal cancer through aberrant DNA methylation and altered nucleotide synthesis and repair. Major folate transport across cell membrane is mediated by reduced folate carrier-1 (RFC1) that also preferably transports chemotherapeutic agents. Variants within the RFC 1 by influencing folate uptake may lead to colorectal cancer susceptibility. Our study is the first to investigate prospectively the RFC gene polymorphism in colorectal cancer in Kashmiri population. A total of 620 subjects (300 colorectal cancer patients and 320 normal subjects) were analyzed by PCR-RFLP technique for RFC gene polymorphism in exon 2 at position 80. We observed 1.27 fold increased risk for AA homozygous variant (OR= 1.27; 95% CI, 0.8678 - 1.875) and 1.19 fold increased risk for GA heterozygous genotypes (OR= 1.19; 95% CI, 0.8080 - 1.760) respectively to CRC susceptibility. However the statistically significant results for smoking and tumor location characteristics were stratified with RFC1 polymorphism, which suggests a possible effect of smoking and cancer location in the etiology of CRC in Kashmir

Genetic Variants at the Apo-A1 Gene in Association with Coronary Artery Disease

The aim of this study was to investigate whether the genetic variants of apolipoprotein A1: MspI polymorphisms in non translated region at -75bp upstream and +83bp in the first intron, had any impact on the development of CAD. A total of 400 unrelated adult subjects were enrolled in the study (200 CAD patients & 200 CAD-free controls) from the Kashmir region. Plasma levels of lipids were estimated for each sample by using photometric system. DNA extracted from blood samples was amplified by means of polymerase chain reaction, and then subjected to RFLP by using MspI enzyme; resolving the product on 3% agarose gel stained with ethidium bromide, and visualized under UV light. The G ?A substitution a