Association of SNP rs533864137 with Severe and Early Diabetic Nephropathy in the Pakistani Population
DOI:
https://doi.org/10.51253/pafmj.v75i6.14062Keywords:
Diabetic Nephropathy, SNP rs533864137, Tetra Primer-ARMS-PCR, CBR1 Gene.Abstract
Objective: To explore the association between SNP rs533864137 and diabetic nephropathy in a Pakistani cohort using tetra-primer amplification refractory mutation system-polymerase chain reaction (ARMS-PCR).
Study Design: Case-Control study.
Place and Duration of Study: Center for Research in Experimental and Applied Medicine (CREAM), within the Department of Biochemistry & Molecular Biology, Army Medical College, Rawalpindi, Pakistan from Nov 2020 to Aug 2024.
Methodology: A total of 213 participants, comprising 113 DN Patients and 100 Controls with diabetes but without nephropathy, were included. Genomic DNA was extracted from blood samples, biochemical analysis was performed to ascertain cases and Controls, and SNP rs533864137 was genotyped using ARMS-PCR. Statistical analyses evaluated the distribution of genotypes and alleles between the Groups and assessed the SNP's association with DN.
Results: Among Controls, 97(97%) individuals had the GG genotype, and 3(3%) had the GA genotype. In the DN Group, 100(99.1%) exhibited the GG genotype, while 1(0.9%) was homozygous for the AA genotype. No significant differences in genotype distribution were observed between Groups (p=0.310). Statistical analysis confirmed that rs533864137 was not significantly associated with DN (p>0.05).
Conclusion: SNP rs533864137 does not appear to be associated with DN in this population. These findings suggest that rs533864137 may not serve as a reliable genetic marker for assessing DN risk in the studied cohort.
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