2070 DEVELOPMENT OF DROSOPHILA KIDNEY STONE MODEL AND REAL-TIME VISUALIZATION OF CALCIUM OXALATE CRYSTAL FORMATION

Abstract

phisms (SNPs) was done in African Americans using a 1:1 ratio of HapMap Phase II CEU and YRI haplotypes as the reference population. Analyses used logistic regression and additive genetic models adjusted for age, body mass index and ancestry. RESULTS: Overall mean age was 62 years, and 49% of women lived in the US South region. There was little evidence for genomic inflation in both African American and Hispanic samples (lambda 1.02). Among 8,067 African American women with genotypes and phenotype data (cases 267), we identified several single nucleotide polymorphism (SNPs) associated with kidney stones (lowest P 4.3 10-8, minor allele frequency [MAF], 0.37, imputation rsq 0.99) on a novel locus on 10p15.3. These SNPs have low frequency in CEU samples (MAF 0.02). We then explore association at this locus in our Hispanic sample (180 cases) and identified an associated proxy SNP (P 0.004, MAF 0.05, D’ 1.0 in HapMap CEU). Replication in additional African Americans is currently underway. For loci previously reported to be associated with kidney stone, we identified associations near the calcitonin receptor gene (CALCR, rs2106432, P 0.0001, African Americans), which has been implicated in kidney stone in children, but not the 21q22.13 locus identified in Iceland. CONCLUSIONS: We identified a new locus for kidney stones in African Americans with low frequency SNPs in our Hispanic sample and in HapMap CEU. Our findings, if confirmed, suggest utility of using diverse ancestry populations in gene discovery.