Genetic polymorphism of SNP K121Q of ENPP1 gene and its association with Hypertension in Vindhyan population (India)

Abstract

Hypertension is a major health problem throughout the world because of its high prevalence and its association with
increased risk of cardiovascular disease. Advances in the diagnosis and treatment of hypertension have played a
major role in recent dramatic declines in coronary heart disease and stroke mortality in industrialized countries. The
ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene is a member of the ecto-nucleotide
pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein.
No significant level of change has been seen in overall distribution of ENPP1 K121Q genotypes in HC group as
compared to disease group although HC group showed little increase in ‘KK’ genotype as compared to Patients of
diabetes type 2 (69.5% vs 63.7%). Similarly, mutant type ‘QQ’ genotype was present in low frequency in Diabetes
type 2 patients group 1.58% and also in control group 0.96% (χ
2 =1.670, P=0.4339). ‘KK’ genotype is higher in
control group and may be protective in our population but statistically not significantly different between both
groups. An odds ratio of KK genotype is 0.7687 which indicates little protective effect whereas an odds ratio of KQ
genotype is 1.271 of Hypertension patients group respectively indicate little or no effect and association of this
mutant genotype with the diabetes susceptibility. Overall allele ‘K’ was found little lower frequency in disease
group as compared to HC group whereas allele ‘Q’ was present in little high frequency in the disease group but the
difference is nominal and was not significant (χ2 = 1.461, P=0.2268). Carriage rate of allele ‘Q’ was slightly high in
diabetic group as compared to healthy control (36.32% Vs 30.48%) whereas carriage rate of allele ‘K’ was
approximately similar in both control and disease group and no significant level of change has been seen. The
pattern of genotype distribution, allele frequency and carriage rate in disease and control group suggests ENPP1 is
not significantly associated with Hypertension in our population.