Hansen Matthew E B, Hunt Steven C, Stone Rivka C, Horvath Kent, Herbig Utz, Ranciaro Alessia, Hirbo Jibril, Beggs William, Reiner Alexander P, Wilson James G, Kimura Masayuki, De Vivo Immaculata, Chen Maxine M, Kark Jeremy D, Levy Daniel, Nyambo Thomas, Tishkoff Sarah A, Aviv Abraham
Department of Genetics and Center of Excellence in Environmental Toxicology, School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Department of Genetic Medicine, Weill Cornell Medical College, Doha, Qatar, Cardiovascular Genetics Division, University of Utah School of Medicine, Salt Lake City, UT 84108, USA.
Hum Mol Genet. 2016 Jun 1;25(11):2324-2330. doi: 10.1093/hmg/ddw070. Epub 2016 Mar 2.
Leukocyte telomere length (LTL), which reflects telomere length in other somatic tissues, is a complex genetic trait. Eleven SNPs have been shown in genome-wide association studies to be associated with LTL at a genome-wide level of significance within cohorts of European ancestry. It has been observed that LTL is longer in African Americans than in Europeans. The underlying reason for this difference is unknown. Here we show that LTL is significantly longer in sub-Saharan Africans than in both Europeans and African Americans. Based on the 11 LTL-associated alleles and genetic data in phase 3 of the 1000 Genomes Project, we show that the shifts in allele frequency within Europe and between Europe and Africa do not fit the pattern expected by neutral genetic drift. Our findings suggest that differences in LTL within Europeans and between Europeans and Africans is influenced by polygenic adaptation and that differences in LTL between Europeans and Africans might explain, in part, ethnic differences in risks for human diseases that have been linked to LTL.
白细胞端粒长度（LTL）反映了其他体细胞组织中的端粒长度，是一种复杂的遗传性状。在全基因组关联研究中，已在欧洲血统人群队列中发现11个单核苷酸多态性（SNP）与LTL在全基因组水平上显著相关。据观察，非裔美国人的LTL比欧洲人更长。这种差异的根本原因尚不清楚。在此，我们表明，撒哈拉以南非洲人的LTL显著长于欧洲人和非裔美国人。基于1000基因组计划第3阶段的11个与LTL相关的等位基因和遗传数据，我们表明欧洲内部以及欧洲与非洲之间的等位基因频率变化不符合中性遗传漂变预期的模式。我们的研究结果表明，欧洲人内部以及欧洲人与非洲人之间LTL的差异受多基因适应影响，欧洲人与非洲人之间LTL的差异可能部分解释了与LTL相关的人类疾病风险中的种族差异。
