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The Polymorphisms in the Vitamin D Receptor Gene and Disease Severity in Sickle Cell Disease

Advances in Biological Chemistry 2015年第1期5卷 24-33页

作者： E. Leila Jerome Clay Alison Motsinger-Reif Janelle Hoskins Lindsay Veit Ali Calikoglu Rupa Redding-Lallinger Departments of Pediatrics and Internal Medicine/Division of Hematology and Oncology Georgia Regents University Augusta GA USA Department of Statistics Bioinformatics Research Center North Carolina State University Raleigh NC USA gentris corporation Morrisville NC USA Orthopedic Surgery Resident University of Toledo Medical Center Toledo OH USA Department of Pediatrics/Division of Endocrinology University of North Carolina School of Medicine Chapel Hill NC USA Departments of Pediatrics and Internal Medicine/Division of Hematology and Oncology University of North Carolina School of Medicine Chapel Hill NC USA

Vitamin D is important in multiple aspects of health and its effects are mediated through the Vitamin D Receptor (VDR). We wanted to test the hypothesis that specific haplotypes of the VDR gene are associated with markers of disease severity, inflammation and bone health in Sickle Cell Disease (SCD). Genotyping was performed on DNA specimens from 1141 study participants in the NIH-funded Silent Infarct Transfusion (SIT) trial. We used the clinical and laboratory data to create separate endothelial dysfunction, vaso-occlusive severity scores and phenotype variables. Seventy-nine Single Nucleotide Polymorphisms (SNP) in the VDR gene and three associated genes—CYP27B1, VD binding protein, retinoid X receptor, were evaluated. The discovery cohort individuals had VDR haplotype information from a prior Genome-Wide Association Study (GWAS). The validation cohort was analyzed for SNPs that were significant in the discovery cohort. The pheno-type data were obtained from the demographic and clinical information of the participants, and were used to create the severity scores, vaso-occlusive score, endothelial dysfunction severity, and overall severity score. Potential gene-gene interactions were analyzed for prediction of disease severity within each severity score. Two SNPs were associated with the overall severity score, 3 SNPs with the endothelial dysfunction severity score and 4 SNPs with the vaso-occlusive severity score. After permutation testing to correct for multiple comparisons, only one of the associations remained significant. SNP rs7965281 was found to be associated with the endothelial dysfunction severity score and remained significant after correcting for multiple comparisons using permutation testing. In the validation cohort, that SNP was again tested for association with each of the severity scores. There was no association with the endothelial or the overall severity score but a trend towards association with the vaso-occlusive severity score (p = 0.02). N

关键词： Vitamin D (VD) Sickle Cell Disease (SCD)

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