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已知的端粒长度遗传位点可能参与出生后端粒长度的改变。

The known genetic loci for telomere length may be involved in the modification of telomeres length after birth.

机构信息

Drum Tower Clinical Medical College, Nanjing Medical University, Nanjing 210008, China.

State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 211166, China.

出版信息

Sci Rep. 2016 Dec 8;6:38729. doi: 10.1038/srep38729.

Abstract

Telomere length varies considerably among individuals. It is highly heritable and decreases with ageing or ageing related diseases. Recently, genome-wide association studies (GWAS) have identified several genetic loci associated with telomere length in adults. However, it is unclear whether these loci represent the genetic basis of telomere length or determine the individual susceptibility to shortening during growth process. Using DNA extracted from peripheral and cord blood of 444 mother-newborn pairs from a Chinese population, we measured relative telomere length (RTL) and genotyped eight known telomere length related variants that were initially identified in populations of European descent. We observed the T allele of rs10936599 and the T allele of rs2736100 were norminally associated with shorter RTL (P = 0.041 and 0.046, respectively) in maternal samples. Furthermore, the Weighted genetic score (WGS) of eight variants was significantly associated with RTL in maternal samples (R = 0.012, P = 0.025). However, we didn't detect any significant associations for any individual variant or the combined WGS with RTL in newborns. These findings didn't support the hypothesis that telomere length related loci may affect telomere length at birth, and we suggested that these loci may play a role in telomere length modification during life course.

摘要

端粒长度在个体之间差异很大。它具有高度的遗传性,随着年龄的增长或与年龄相关的疾病而缩短。最近,全基因组关联研究(GWAS)已经确定了几个与成年人端粒长度相关的遗传位点。然而,这些位点是否代表端粒长度的遗传基础,或者是否决定个体在生长过程中缩短的易感性,尚不清楚。

我们使用来自中国人群的 444 对母婴外周血和脐带血提取的 DNA,测量了相对端粒长度(RTL),并对最初在欧洲人群中鉴定出的 8 个与端粒长度相关的已知变体进行了基因分型。

我们观察到,rs10936599 的 T 等位基因和 rs2736100 的 T 等位基因在母体样本中与较短的 RTL 呈正态相关(P 值分别为 0.041 和 0.046)。此外,8 个变体的加权遗传评分(WGS)与母体样本中的 RTL 显著相关(R=0.012,P=0.025)。

然而,我们没有在新生儿中检测到任何个体变体或联合 WGS 与 RTL 的任何显著关联。这些发现不支持端粒长度相关位点可能影响出生时端粒长度的假设,我们认为这些位点可能在生命过程中端粒长度的修饰中发挥作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c15f/5143977/90762b171df4/srep38729-f1.jpg

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