一项全基因组关联研究在18号染色体q12.2区域发现了一个影响白细胞端粒长度的新基因座。
A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length.
作者信息
Mangino M, Richards J B, Soranzo N, Zhai G, Aviv A, Valdes A M, Samani N J, Deloukas P, Spector T D
机构信息
Department of Twin Research & Genetic Epidemiology, King's College London, London, UK.
出版信息
J Med Genet. 2009 Jul;46(7):451-4. doi: 10.1136/jmg.2008.064956. Epub 2009 Apr 8.
Abstract
BACKGROUND
Telomere length is a predictor for a number of common age related diseases and is a heritable trait.
METHODS AND RESULTS
To identify new loci associated with mean leukocyte telomere length we conducted a genome wide association study of 314,075 single nucleotide polymorphisms (SNPs) and validated the results in a second cohort (n for both cohorts combined = 2790). We identified two novel associated variants (rs2162440, p = 2.6 x 10(-6); and rs7235755, p = 5.5 x 10(-6)) on chromosome 18q12.2 in the same region as the VPS34/PIKC3C gene, which has been directly implicated in the pathway controlling telomere length variation in yeast.
CONCLUSION
These results provide new insights into the pathways regulating telomere homeostasis in humans.
摘要
背景
端粒长度是多种常见的与年龄相关疾病的预测指标，并且是一种可遗传的性状。
方法与结果
为了鉴定与平均白细胞端粒长度相关的新基因座，我们对314,075个单核苷酸多态性（SNP）进行了全基因组关联研究，并在第二个队列中验证了结果（两个队列合并后的n = 2790）。我们在18号染色体q12.2上与VPS34/PIKC3C基因相同的区域鉴定出两个新的相关变体（rs2162440，p = 2.6×10⁻⁶；以及rs7235755，p = 5.5×10⁻⁶），该基因已直接参与酵母中端粒长度变异的控制途径。
结论
这些结果为调节人类端粒稳态的途径提供了新的见解。
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