Assessment of single nucleotide polymorphisim RS1888747 in FRMD3 and RS6930576 in SASHI1 genes on diabetic nephropathy patients in Pakistani population

Abstract

Diabetic nephropathy (DN) is the major complication of type I and II diabetes. This condition then eventually leads to end stage renal disease (ESRD). It is commonly observed that there is close association between the single nucleotide polymorphism (SNPs) and DN. Studies have also evaluated the significant association of SNPs at FRMD3 and SASH1 locus with diabetic kidney disease (DKD). To find out the same association in Pakistani population, we conducted a study with the aim to characterize the genomic polymorphism in FRMD3 and SASH1gene. For this purpose, 30 blood samples were collected from the Mayo hospital Lahore, Pakistan, of which 20 samples were included study group (of DN patients) and 10 samples were of control group (of healthy individuals). After sample collection, DNA was extracted through organic method. Gel electrophoresis (2%) was done for quantitative and qualitative analysis. Samples amplified through PCR were then sequenced and phylogenetic tree was constructed to perform gene comparison in different organisms. The results of our study showed that SNP rs1888747 in FRMD3 is associated with DN but SNP rs6930576 in SASH1 is not associated with diabetic nephropathy in Pakistan. These two risk allele expression did not differ considerably in case and control groups respectively. It is suggested that the genetic predisposition of Pakistani population of diabetes differs considerably to Japanese and European population. Therefore, further studies need to be conducted with more number of patients in Pakistan to find out the stronger association between these SNPs and Diabetic nephropathy.