GENOTYPING OF RENALASE rs2576178 POLYMORPHISM IN END STAGE RENAL DISEASE
Mohammad Yasin, Muhammad Babar Mahmood and
Dr. Sana Khurshid
Introduction
End stage renal disease (ESRD) is the final stage of Chronic
kidney disease where the only options left are dialysis and kidney
transplant. Causative agents of ESRD include diabetes, high
blood pressure, autoimmune diseases and urinary tract infections.
Evidences in support of genetic basis of ESRD are also present.
Hypertension is the second major cause of ESRD and renalase,
an important enzyme produced by kidneys, has a deep impact on
controlling blood pressure by metabolizing catacholamines.
Methods
DNA was extracted from blood and the quality of DNA was
checked through Agarose gel electrophoresis.
PCR was performed for the amplification of renalase gene.
PCR amplification. PCR products were amplified from human
genomic DNA. Lane 1:Ladder. Lane 2 to 14: amplified product of
525bp.
Restriction fragment length polymorphism (RFLP) was done by
using restriction endonuclease enzyme Msp I.
Restriction analysis of few PCR of patients samples. Lane 1: DNA
ladder, Lane 2: genotype AG, Lane 3, 5 to 8: genotype AA, Lane 4
and 9: genotype GG.
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Results
Results showed no clear difference between patients and
controls. As a result rs2576178 polymorphism is not involved in
ESRD. This study is in accordance with many other studies
performed on different populations.
The graph shows a comparison of genotypes of patients and
controls.
Allelic frequencies of Patients and Controls.
The Chi Square test showed the p-value 0.711. As this value is
greater than 0.05 we can say that the Asp37Glu polymorphisms is
not involved in ESRD.
References
Ahlawat RS, Gupta S, Kapoor S, Kar P. 2012. Polymorphism of
renalase gene in patients of chronic kidney disease. Open J
Nephrol 2:136-143.
Desir GV. 2008. Renalase deficiency in chronic kidney disease,
and its contribution to hypertension and cardiovascular disease.
Current opinion in nephrology and hypertension 17:181-185.
Stec A, Semczuk A, Furmaga J, Ksiazek A, Buraczynska M. 2011.
Polymorphism of the renalase gene in end-stage renal disease
patients affected by hypertension. Nephrology Dialysis
Transplantation 27:4162-4166.