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使用短串联重复序列评分作为多基因遗传模型估算一级亲属患慢性病的遗传风险。

Estimating the Genetic Risk of First-Degree Relatives for Chronic Diseases Using the Short Tandem Repeat Score as Model of Polygenic Inheritance.

作者信息

Qi Xia, Ullah Anwar, Yu Weijian, Jin Xiaojun, Liu Hui

机构信息

College of Medical Laboratory, Dalian Medical University, Dalian, 116044, People's Republic of China.

出版信息

Biochem Genet. 2024 Dec 29. doi: 10.1007/s10528-024-11003-0.

Abstract

This study aims to establish a genetic risk assessment model based on a score of short tandem repeats (STRs) of polygenic inheritance. A total of 396 children and their biological parents were collected for STR genotyping. The numbers of tandem repeats of two alleles in one STR locus were assumed to be a quantitative genetic strength for disease incidence. The sums of 19 STR loci were considered a quantitative genetic strength per individual. Various thresholds of the STRs between paternal, maternal, and childhood data were recorded. As an exemplar, for thresholds of 25%, the first quarter = 1. All other samples = 0. The consistency rate for heredity (CH) was calculated from the difference in the morbidity of children between parents with and without disease groups. The ratio of observed CH to expected CH was defined as the heredity index (HI). Actual Pedigree data (finger-crossing test) confirmed the accuracy of the STR score. The genetic risk of first-degree relatives could be estimated using easily acquired data (incidence in an unrelated population). Our findings can provide a polygenic genetic model for estimating the incidence and genetic risk of chronic disease in first-degree relatives.

摘要

本研究旨在基于多基因遗传的短串联重复序列(STR)评分建立一种遗传风险评估模型。共收集了396名儿童及其亲生父母进行STR基因分型。假设一个STR位点上两个等位基因的串联重复次数为疾病发生的定量遗传强度。19个STR位点的总和被视为个体的定量遗传强度。记录了父本、母本和儿童数据之间STR的各种阈值。作为一个示例,对于25%的阈值,第一四分位数 = 1。所有其他样本 = 0。遗传一致性率(CH)由患病组和未患病组父母的子女发病率差异计算得出。观察到的CH与预期CH的比率定义为遗传指数(HI)。实际家系数据(交叉检验)证实了STR评分的准确性。可以使用容易获得的数据(无关人群中的发病率)估计一级亲属的遗传风险。我们的研究结果可为估计一级亲属慢性病的发病率和遗传风险提供一种多基因遗传模型。

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