c.*84G>A Mutation in CETP Is Associated with Coronary Artery Disease in South Indians

Citation: Ganesan M, Nizamuddin S, Katkam SK, Kumaraswami K, Hosad UK, Lobo LL, et al. (2016) c.*84G>A Mutation in CETP Is Associated with Coronary Artery Disease in South Indians. PLoS ONE 11(10): e0164151. doi:10.1371/journal.pone.0164151
Published: October 21, 2016

Abstract
coronary-artery-plaqueBackground: Coronary artery disease (CAD) is one of the leading causes of mortality worldwide. It is a multi-factorial disease and several studies have demonstrated that the genetic factors play a major role in CAD. Although variations in cholesteryl ester transfer protein (CETP) gene are reported to be associated with CAD, this gene has not been studied in South Indian populations. Hence we evaluated the CETP gene variations in CAD patients of South Indian origin.
Methods: We sequenced all the exons, exon-intron boundaries and UTRs of CETP in 323 CAD patients along with 300 ethnically and age matched controls. Variations observed in CETP were subjected to various statistical analyses.
Results and Discussion: Our analysis revealed a total of 13 variations. Of these, one3’UTRvariant rs1801706 (c.*84G>A) was significantly associated with CAD (genotype association test: OR = 2.16, 95% CI: 1.50–3.10, p = 1.88x10-5 and allelic association test: OR = 1.92, 95% CI: 1.40–2.63, p = 2.57x10-5). Mutant allele “A” was observed to influence the higher concentration of mRNA (p = 7.09×10−3, R2 = 0.029 and β = 0.2163). Since expression of CETP has been shown to be positively correlated with the risk of CAD, higher frequency of “A” allele (patients: 22.69% vs.controls: 13%) reveals that c.*84G>A is a risk factor for CAD in South Indians.
Conclusions: This is the first report of the CETP gene among South Indians CAD patients. Our results suggest that rs1801706 (c.*84G>A) is a risk factor for CAD in South Indian population.

...

Log in or register for free to continue reading
Register Now For Free Already Registered? Log In
This entry was posted in Cardiovascular, Cardiovascular Featured 2, Non-Communicable Disease and tagged , , , , , .

Post a Comment

You must be logged in to post a comment.

  • Follow mdCurrent Health for the latest health news!

    Email Newsletter