Abstract
BackgroundChromosome 9p21 has recently been shown to be a risk region for a broad range of vascular diseases. Since carotid intima-media thickness (IMT) and plaque are independent predictors for vascular diseases, the association between 9p21 and these two phenotypes was investigated.Methodology/Principal FindingsCarotid segment-specific IMT and plaques were obtained in 1083 stroke- and myocardial infarction-free volunteers. We tested the genotypes and haplotypes of key single nucleotide polymorphisms (SNPs) on chromosome 9p21 for the associations with carotid IMT and plaque. Multivariate permutation analyses demonstrated that carriers of the T allele of SNP rs1333040 were significantly associated with thicker common carotid artery (CCA) IMT (p = 0.021) and internal carotid artery (ICA) IMT (p = 0.033). The risk G allele of SNP rs2383207 was associated with ICA IMT (p = 0.007). Carriers of the C allele of SNP rs1333049 were found to be significantly associated with thicker ICA IMT (p = 0.010) and the greater risk for the presence of carotid plaque (OR = 1.57 for heterozygous carriers; OR = 1.75 for homozygous carriers). Haplotype analysis showed a global p value of 0.031 for ICA IMT and 0.115 for the presence of carotid plaque. Comparing with the other haplotypes, the risk TGC haplotype yielded an adjusted p value of 0.011 and 0.017 for thicker ICA IMT and the presence of carotid plaque respectively. Further analyzing the data separated by sex, the results were significant only in men but not in women.ConclusionsChromosome 9p21 had a significant association with carotid atherosclerosis, especially ICA IMT. Furthermore, such genetic effect was in a gender-specific manner in the Han Chinese population.
Highlights
Chromosome 9p21 had a significant association with carotid atherosclerosis, especially internal carotid artery (ICA) intima-media thickness (IMT)
A recent discovery has noted that variation of single nucleotide polymorphisms (SNPs) on chromosome 9p21 is highly associated with the risk of coronary artery disease (CAD) and myocardial infarction (MI) [1,2,3]
Among the 1083 stroke- and MI-free participants, carotid IMT data are available for 1074 subjects, plaque index data for 810 subjects and both sets of data for 801subjects
Summary
A recent discovery has noted that variation of single nucleotide polymorphisms (SNPs) on chromosome 9p21 is highly associated with the risk of coronary artery disease (CAD) and myocardial infarction (MI) [1,2,3]. This risk region has been demonstrated to be significantly associated with the atherosclerotic stroke subtype [4]. Carotid intima-media thickness (IMT) and plaque have been shown to be good subclinical atherosclerotic markers and independent predictors for future cardiovascular events [5,6] Despite both phenotypes correlate well to the pathology and clinically defined atherosclerosis, they represent distinct traits [7]. Since carotid intima-media thickness (IMT) and plaque are independent predictors for vascular diseases, the association between 9p21 and these two phenotypes was investigated
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