ABCA1 C69T gene polymorphism and risk of type 2 diabetes mellitus in a Saudi population.

Type 2 diabetes mellitus (T2DM) is a disease induced by complex interactions between environmental factors and certain genetic factors. Genetic variants in the Adenosine Binding Cassette Transporter Proteins 1 (ABCA1) have been associated with abnormalities of serum lipid levels of high-density lipoprotein (HDL-C). Decreased serum levels of HDL-C have often been observed in T2DM cases, and this condition has been considered to be involved in the mechanism of insulin resistance (IR). Therefore, we investigated possible association between ABCA1 C69T gene polymorphism and T2DMin a Saudi population. This study was carried out with 380 healthy control subjects and 376 T2DM patients. Genotyping of ABCA1 C69T polymorphism was carried out by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism technique. We observed that the frequency of the T allele of the ABCA1 C69T gene was significantly higher in healthy subjects compared to T2DMpatients (0.28 vs 0.45; p<0.0001; OR (95% CI) = 0.4624 (0.3732–0.5729), and therefore the T allele may be a protective factor against T2DM in the Saudi population.

rs11655505 (c.-2265 C/T) Variant in BRCA1 Promoter is not associated with Breast Cancer Risk in South India.

Aim: Breast cancer is leading cause of cancer deaths in women, globally. Recently a study on a Chinese population suggested that there is a protective role of rs11655505 (c.-2265 C/T) in the BRCA1 promoter whereas, the same in Caucasian population showed no effect on breast cancer prevalence. This study was undertaken to find out, if there is any association between rs11655505 (c.-2265 C/T) and breast cancer in an Indian population. Methodology: Blood samples were collected from 352 female breast cancer patients and 380 healthy women of age range 18-68 years. DNA was extracted from blood through standard salting out procedure. All the DNA samples were genotyped by using TaqMan® SNP Genotyping Assays. Data obtained was analyzed statistically to find out the possible association between the variation and predisposition of breast cancer Results: No association was found between rs11655505 and breast cancer occurrences in familial (p=0.61), non-familial (p=0.45) and premenopausal patients (p=0.52) groups. Menopausal group had a significant association (p=0.01) with studied SNP. Conclusion: Present study failed to confirm an association between of rs11655505 and breast cancer. Larger studies are required to consolidate if there is any little association of rs11655505 with breast cancer risk.