Microsoft Research, Los Angeles, California, USA.
Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, 35 Convent Drive, Room 1A-1000, Bethesda, MD, 20892, USA.
Sci Rep. 2017 Nov 20;7(1):15879. doi: 10.1038/s41598-017-13475-0.
Unraveling the complexity of aging is crucial for understanding its mechanisms and its role as a risk factor for most chronic conditions. Advancements marked by genome-wide association studies (GWASs) have sparked interest in gene cataloguing in the context of aging and age-related conditions. Here, we used GWAS to explore whether single nucleotide polymorphisms (SNPs) were associated with functional and anthropometric parameters in a cohort of old community-dwellers enrolled in the ilSIRENTE study. Analyses were carried out in men and women aged 80+ years enrolled in the ilSIRENTE study (n = 286) and replicated in the inCHIANTI study (n = 1055). Genotyping was accomplished on Infinium Human610-QUAD version 1. In the ilSIRENTE population, genetic variants in ZNF295 and C2CD2 (rs928874 and rs1788355) on chromosome 21q22.3, were significantly associated with the 4-meter gait speed (rs928874, p = 5.61 × 10; rs1788355, p = 5.73 × 10). This association was not replicated in the inCHIANTI population. Our findings suggest that specific SNPs may be associated with a key measure of physical performance in older adults. GWASs using larger samples are needed to confirm these preliminary results to enhance our comprehension of complex age-associated phenomena.
解析衰老的复杂性对于理解其机制以及作为大多数慢性疾病风险因素的作用至关重要。全基因组关联研究(GWAS)的进展激发了人们对衰老和与年龄相关疾病背景下基因编目的兴趣。在这里,我们使用 GWAS 来探索单核苷酸多态性(SNP)是否与 ilSIRENTE 研究中招募的老年社区居民队列的功能和人体测量参数相关。分析在 ilSIRENTE 研究中招募的 80 岁以上的男性和女性(n=286)中进行,并在 inCHIANTI 研究中进行了复制(n=1055)。基因分型在 Infinium Human610-QUAD 版本 1 上进行。在 ilSIRENTE 人群中,染色体 21q22.3 上的 ZNF295 和 C2CD2 中的遗传变异(rs928874 和 rs1788355)与 4 米步行速度显著相关(rs928874,p=5.61×10;rs1788355,p=5.73×10)。这一关联在 inCHIANTI 人群中没有得到复制。我们的研究结果表明,特定的 SNP 可能与老年人身体机能的一个关键衡量标准相关。需要使用更大的样本进行 GWAS 来确认这些初步结果,以增强我们对复杂与年龄相关现象的理解。