Background: The previous studies carried out for STK39 revealed its association with EHTN, but the models of inheritance were not studied.
Aims & Objective: We studied the SNP rs35929607 of STK39 in a Pakistani population on the subjects from consanguineous and non-consanguineous populations and looked at the inheritance patterns in both cohorts.
Materials and Methods: This was cross sectional, case-controlled and population based study. Total 528 subjects were selected randomly (274 males, 254 females; n= 81 from consanguineous, n= 447 from non-consanguineous population) from Tharparker, Pakistan. We recorded blood pressure by standard methods. Genotyping was performed by tetra primer ARMS-PCR. Analysis of prevalence of genotypes and frequencies of the allele A and G was carried out. Data was analyzed descriptively and categorically by using SPSS-21 for comparative analysis of prevalence of the EHTN and homozygotes and heterozygotes (i.e. AA, GG & AG); and frequencies of allele A and G in the consanguineous and non-consanguineous cohort. Frequencies of the SNPs among cases were compared with controls and odds ratio (OR) with 95% confidence intervals was calculated. Association was tested for different models of inheritance (dominant, codominant, overdominant and recessive).
Results: All (N= 528) subjects (both the consanguineous and non-consanguineous) showed the genotype frequencies as 322 (61%) for AG, 191 (36%) for AA and 15 (03%) for GG. Frequency of reference allele (A) was 67.0% and of rare allele (G) was 33% (χ2 = 73.1 and p-value 0.0000). P-values in all the 3 populations showed that they did not fall in concordance with HWE. The low frequency of the STK-39 SNP homozygosity and heterozygsity also resulted in non-significant association of EHTN in all tested models of inheritance.
Conclusion: It is concluded that in the studied STK39 A > G rs35929607 SNP, both the homozygous and heterozygous genotypes carry a lower risk of transmission of EHTN in the tested dominant and recessive models of inheritance in the consanguineous and non-consanguineous populations. It is recommended that other genes implicated in the etiology of EHTN need to be explored and tested for the pattern of inheritance.
Key words: Essential hypertension, Inheritance, Serene Threonine Kinase 39, Consanguinity.
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