genetic variation at selected snps in the leptin gene and association of alleles with markers of kidney disease in a xhosa population of south africa遗传变异在选定的snp等位基因与标记的瘦素基因和协会的肾病科萨人南非人口.pdfVIP

Genetic Variation at Selected SNPs in the Leptin Gene and Association of Alleles with Markers of Kidney Disease in a Xhosa Population of South Africa 1 1 2 1 3 Ikechi G. Okpechi *, Brian L. Rayner , Lize van der Merwe , Bongani M. Mayosi , Adebowale Adeyemo , Nicki Tiffin4, Rajkumar Ramesar4 1 Department of Medicine, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa, 2 Department of Statistics, University of the Western Cape, Cape Town, South Africa, 3 Centre for Research on Genomics and Global Health, National Human Genome Research Institute, Bethesda, Maryland, United States of America, 4 Division of Human Genetics, Institute for Infectious Diseases and Molecular Medicine, University of Cape Town, Cape Town, South Africa Abstract Background: Chronic kidney disease (CKD) is a significant public health problem that leads to end-stage renal disease (ESRD) with as many as 2 million people predicted to need therapy worldwide by 2010. Obesity is a risk factor for CKD and leptin, the obesity hormone, correlates with body fat mass and markers of renal function. A number of clinical and experimental studies have suggested a link between serum leptin and kidney disease. We hypothesised that variants in the leptin gene (LEP) may be associated with markers of CKD in indigenous black Africans. Methodology/Principal Findings: Black South Africans of Xhosa (distinct cultural Bantu-speaking population) descent were recruited for the study and four common polymorphisms of the LEP (rs7799039, rs791620, rs2167270 and STS-U43653 [ENSSNP5824596]) were analysed for genotype and haplotype association with urine albumin-to-creatinine ratio (UACR), estimated glomer