Case-control association study of elmo1 variant (rs741301) with diabetic nephropathy in population of lahore, pakistan
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Date
2019
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UMT Lahore
Abstract
Diabetic Nephropathy is a polygenic and multifactorial disease. It is caused by various environmental and genetic factors. rs741301 is a single nucleotide polymorphism which is located on intronic region of ELMO1 gene. ELMO1 gene is residing on 7p14.2 region of chromosome. Several genome-wide association studies found the association between rs741301 and diabetic nephropathy in multiple different populations. The purpose of this research was to study the association of rs741301 with diabetic nephropathy in population of Lahore, Pakistan. 50 irrelevant subjects who include 25 physician diagnosed patients and 25 controls were enrolled from Lahore, Pakistan. PCI method was used for extraction of DNA, the region of DNA containing rs741301 SNP was amplified by monoplex PCR. In both controls and cases genotyping were performed through mini-sequencing method. PLINK software was used for the association analysis through recessive, dominant and allelic genotyping model. Our results shows that the SNP (rs741301) has significant association with diabetic nephropathy under recessive model (p = 0.046, CHISQ = 3.967). Whereas the genotype “GG” more prevalent in cases as well as the genotype “AA” is also more prevalent in cases as compared to controls. In our study, result showed that allele ‘G’ of rs741301 is significantly associated with DN in our population. In our study association of ELMO1gene with Diabetic nephropathy has been reported.