Submitted on November 30, 2005
Revised on January 27, 2006
Accepted on February 7, 2006
Zinc finger protein 202, genetic variation, and HDL cholesterol in the general population
Maria C.A. Stene, Ruth Frikke-Schmidt, Børge G. Nordestgaard, and Anne Tybjærg-Hansen
Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen Ø 2100
Corresponding Author: at-h{at}rh.dk
Zinc finger protein 202(ZNF202) is a transcriptional repressor which binds elements found predominantly in genes involved in HDL metabolism. We tested the following hypotheses: 1) frequencies of single nucleotide polymorphisms(SNPs) and haplotypes in ZNF202 differ between individuals with low and high HDL cholesterol; 2) SNPs in ZNF202 affect HDL cholesterol levels in the general population. We screened the promoter and protein-coding exons of ZNF202 in individuals with the highest 1%(n=95) and lowest 1%(n=95) HDL cholesterol among 9,259 Danish adults. None of the 10 SNPs identified differed in frequency as single sites or as haplotypes between low and high HDL cholesterol groups. In accordance with this, seven mutations were equally frequent(4-5%) in individuals with low or high HDL cholesterol. Finally, for all five SNPs identified in the coding region, we determined the association of genotype with HDL cholesterol in 9,259 individuals from the general population. Four SNPs were not associated with variation in HDL cholesterol, however c.*2T>G homozygosity was associated with a discrete effect on HDL cholesterol in men. We show that genetic variation in ZNF202 is common in the general population. However, SNPs in the protein-coding region of ZNF202 do not make a major contribution to HDL cholesterol levels.
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