Beckie Theresa M, Groër Maureen W, Beckstead Jason W
College of Nursing, University of South Florida, 12901 Bruce B. Downs Blvd., Tampa, FL 33612, USA.
Genet Test Mol Biomarkers. 2011 Jun;15(6):435-42. doi: 10.1089/gtmb.2010.0222. Epub 2011 Mar 4.
Genome-wide association studies have identified variants on chromosome 9p21 that are associated with coronary heart disease (CHD). The relationship between these variants and the age of onset of CHD is less clear. The aim of this study was to examine the allelic frequencies and haplotype structure of eight single-nucleotide polymorphisms (SNPs) on chromosome 9p21 in ethnically diverse women. We also explored the relationship between 9p21 SNPs and the age of CHD onset.
There was considerable interethnic allelic and haplotype diversity across the 9p21 locus with only two SNPs (rs10757274 and rs4977574) in perfect linkage disequilibrium in both races, and only a small proportion of the haplotypes shared between the racial groups. With the exception of rs1333040, whites with at least one copy of the 9p21 SNP risk alleles were found to have CHD from 1.45 (rs10116277) to 4.77 (rs2383206) years earlier than those with the wild-type alleles. Blacks carrying at least one copy of the risk allele (92%) for rs1333040 had a CHD age of onset that was 6.5 years earlier than those with the wild-type alleles.
Different variants on chromosome 9p21 may influence CHD age of onset in whites and blacks.
全基因组关联研究已确定9号染色体p21区域的变异与冠心病（CHD）相关。这些变异与冠心病发病年龄之间的关系尚不清楚。本研究旨在检测不同种族女性中9号染色体p21区域8个单核苷酸多态性（SNP）的等位基因频率和单倍型结构。我们还探讨了9p21 SNP与冠心病发病年龄之间的关系。
9p21位点存在显著的种族间等位基因和单倍型多样性，两个种族中只有两个SNP（rs10757274和rs4977574）处于完全连锁不平衡状态，种族间共享的单倍型比例很小。除rs1333040外，携带至少一个拷贝9p21 SNP风险等位基因的白人患冠心病的时间比携带野生型等位基因的白人早1.45年（rs10116277）至4.77年（rs2383206）。携带rs1333040风险等位基因至少一个拷贝的黑人（92%）冠心病发病年龄比携带野生型等位基因的黑人早6.5年。
9号染色体p21区域的不同变异可能影响白人和黑人的冠心病发病年龄。
