Serene threonine kinase 39 gene single nucleotide A-G polymorphism rs35929607 is weakly associated with essential hypertension in population of Tharparkar, Pakistan.

OBJECTIVE: To study the prevalence of Serine Threonine Kinase-39 A-G polymorphism rs3592960 in rural population. METHODS: The random, cross-sectional study was carried out from 2009 to 2010 on 528 subjects in Tharparkar, Pakistan. Data was recorded excluding cases of secondary hypertension. Normotensives were used as the controls and hypertensives as the cases. Genotyping was carried out by tetra-primer amplification refraction mutation system-polymerase chain reaction method and the data was analysed statistically with SPSS-14. RESULTS: The association of Serine Threonine Kinase-39 rs35929607 with essential hypertension was as 3.07 (95% confidence interval 2.10-4.49) units/mmHg per G allele (p = 0.001). Raised systolic BP > 140mmHg showed 0.76 (95% CI, 0.47-1.23) (p = 0.235) and raised diastolic BP > 90mmHg showed 0.93 (95% CI, 0.61-1.44) units/mmHg per G allele (p = 0.735). Frequency of the risk allele G was less (33.3%) than that of allele-A (66.7%), (p = 0.0001). The effect size of genetic factors was non-significant, beta = 0.062 (p = 0.153) for GG homozygotes and beta = -0.013 (p = 0.772) for AG heterozygotes. Effect size of risk factors (age > 50 years, diabetes and body mass index > 23) was found significantly associated with essential hypertension, beta = 0.747 (p = 0.000).The risk factors increased the effect by 12.04 fold in GG genotype and further 3 fold influence of risk factors is required with single allele-G in case of AG heterozygotes. CONCLUSION: Essential hypertension risk conferred by this polymorphism in the study population is different from the previously reported European population, suggesting that the variant G allele remains less associated in the absence of environmental risk factors.