Genome-wide association study to identify single nucleotide polymorphisms associated with diabetic nephropathy and estimated glomerular filtration rate in FIND study

Hasanzadehkiabi, Mohammad (2016) Genome-wide association study to identify single nucleotide polymorphisms associated with diabetic nephropathy and estimated glomerular filtration rate in FIND study. Masters thesis, Memorial University of Newfoundland.

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Abstract

Diabetes mellitus is characterized by a chronic increase in blood glucose levels due to a dysfunction of carbohydrate, fat and protein metabolism, which in turn are the result of insulin resistance and/or insulin action disturbances. Its cardinal symptoms include polyuria, thirst and weight loss; its long term complications include neuropathy, nephropathy, and retinopathy. It is predicted that this rate will increase to 9.9% of the adult population by 2030. Although the rate of new cases of End Stage Renal Disease (ESRD) in 2011 decreased 4.2% compared to the year 2010, nephropathy due to diabetes continued to be the most common cause of ESRD in the USA. In this study a genome-wide association approach has been performed to identify loci associated with diabetic nephropathy (DN) and variation in estimated Glomerular Filtration Rate (eGFR) value in three distinct ethnic groups, i.e. African American, Mexican American and European American; additionally, the effect of sex has also been studied to reveal potential sex dependency on the loci associated with DN and eGFR value. Dataset provided in "The Family Investigation of Nephropathy and Diabetes” (FIND) Study, contains genotype of 1454 individuals with DN and 1168 individuals without DN .After conducting genome-wide association analyses, in this study, the strongest association with DN and/or eGFR values have been detected on the regions located on the 2p, 2q, 3q, 4q, 5q, 7q, 8q, 9q, 12q, 14q, 15q and Xq chromosomes.

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