Xia Qi, Anwar Ullah, Weijian Yu, Xiaojun Jin, Hui Liu
{"title":"Estimating the Genetic Risk of First-Degree Relatives for Chronic Diseases Using the Short Tandem Repeat Score as Model of Polygenic Inheritance.","authors":"Xia Qi, Anwar Ullah, Weijian Yu, Xiaojun Jin, Hui Liu","doi":"10.1007/s10528-024-11003-0","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1000,"publicationDate":"2024-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Biochemical Genetics","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1007/s10528-024-11003-0","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
引用次数: 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.
期刊介绍:
Biochemical Genetics welcomes original manuscripts that address and test clear scientific hypotheses, are directed to a broad scientific audience, and clearly contribute to the advancement of the field through the use of sound sampling or experimental design, reliable analytical methodologies and robust statistical analyses.
Although studies focusing on particular regions and target organisms are welcome, it is not the journal’s goal to publish essentially descriptive studies that provide results with narrow applicability, or are based on very small samples or pseudoreplication.
Rather, Biochemical Genetics welcomes review articles that go beyond summarizing previous publications and create added value through the systematic analysis and critique of the current state of knowledge or by conducting meta-analyses.
Methodological articles are also within the scope of Biological Genetics, particularly when new laboratory techniques or computational approaches are fully described and thoroughly compared with the existing benchmark methods.
Biochemical Genetics welcomes articles on the following topics: Genomics; Proteomics; Population genetics; Phylogenetics; Metagenomics; Microbial genetics; Genetics and evolution of wild and cultivated plants; Animal genetics and evolution; Human genetics and evolution; Genetic disorders; Genetic markers of diseases; Gene technology and therapy; Experimental and analytical methods; Statistical and computational methods.