{"title":"通过折叠和核方法测试系谱结构样本中序数性状和遗传变异之间的关联。","authors":"Li-Chu Chien","doi":"10.1515/ijb-2022-0123","DOIUrl":null,"url":null,"abstract":"<p><p>In genome-wide association studies (GWAS), logistic regression is one of the most popular analytics methods for binary traits. Multinomial regression is an extension of binary logistic regression that allows for multiple categories. However, many GWAS methods have been limited application to binary traits. These methods have improperly often been used to account for ordinal traits, which causes inappropriate type I error rates and poor statistical power. Owing to the lack of analysis methods, GWAS of ordinal traits has been known to be problematic and gaining attention. In this paper, we develop a general framework for identifying ordinal traits associated with genetic variants in pedigree-structured samples by collapsing and kernel methods. We use the local odds ratios GEE technology to account for complicated correlation structures between family members and ordered categorical traits. We use the retrospective idea to treat the genetic markers as random variables for calculating genetic correlations among markers. The proposed genetic association method can accommodate ordinal traits and allow for the covariate adjustment. We conduct simulation studies to compare the proposed tests with the existing models for analyzing the ordered categorical data under various configurations. We illustrate application of the proposed tests by simultaneously analyzing a family study and a cross-sectional study from the Genetic Analysis Workshop 19 (GAW19) data.</p>","PeriodicalId":50333,"journal":{"name":"International Journal of Biostatistics","volume":" ","pages":"677-690"},"PeriodicalIF":1.2000,"publicationDate":"2023-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Testing for association between ordinal traits and genetic variants in pedigree-structured samples by collapsing and kernel methods.\",\"authors\":\"Li-Chu Chien\",\"doi\":\"10.1515/ijb-2022-0123\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>In genome-wide association studies (GWAS), logistic regression is one of the most popular analytics methods for binary traits. Multinomial regression is an extension of binary logistic regression that allows for multiple categories. However, many GWAS methods have been limited application to binary traits. These methods have improperly often been used to account for ordinal traits, which causes inappropriate type I error rates and poor statistical power. Owing to the lack of analysis methods, GWAS of ordinal traits has been known to be problematic and gaining attention. In this paper, we develop a general framework for identifying ordinal traits associated with genetic variants in pedigree-structured samples by collapsing and kernel methods. We use the local odds ratios GEE technology to account for complicated correlation structures between family members and ordered categorical traits. We use the retrospective idea to treat the genetic markers as random variables for calculating genetic correlations among markers. The proposed genetic association method can accommodate ordinal traits and allow for the covariate adjustment. We conduct simulation studies to compare the proposed tests with the existing models for analyzing the ordered categorical data under various configurations. We illustrate application of the proposed tests by simultaneously analyzing a family study and a cross-sectional study from the Genetic Analysis Workshop 19 (GAW19) data.</p>\",\"PeriodicalId\":50333,\"journal\":{\"name\":\"International Journal of Biostatistics\",\"volume\":\" \",\"pages\":\"677-690\"},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2023-09-26\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Biostatistics\",\"FirstCategoryId\":\"100\",\"ListUrlMain\":\"https://doi.org/10.1515/ijb-2022-0123\",\"RegionNum\":4,\"RegionCategory\":\"数学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/11/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Biostatistics","FirstCategoryId":"100","ListUrlMain":"https://doi.org/10.1515/ijb-2022-0123","RegionNum":4,"RegionCategory":"数学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/11/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
Testing for association between ordinal traits and genetic variants in pedigree-structured samples by collapsing and kernel methods.
In genome-wide association studies (GWAS), logistic regression is one of the most popular analytics methods for binary traits. Multinomial regression is an extension of binary logistic regression that allows for multiple categories. However, many GWAS methods have been limited application to binary traits. These methods have improperly often been used to account for ordinal traits, which causes inappropriate type I error rates and poor statistical power. Owing to the lack of analysis methods, GWAS of ordinal traits has been known to be problematic and gaining attention. In this paper, we develop a general framework for identifying ordinal traits associated with genetic variants in pedigree-structured samples by collapsing and kernel methods. We use the local odds ratios GEE technology to account for complicated correlation structures between family members and ordered categorical traits. We use the retrospective idea to treat the genetic markers as random variables for calculating genetic correlations among markers. The proposed genetic association method can accommodate ordinal traits and allow for the covariate adjustment. We conduct simulation studies to compare the proposed tests with the existing models for analyzing the ordered categorical data under various configurations. We illustrate application of the proposed tests by simultaneously analyzing a family study and a cross-sectional study from the Genetic Analysis Workshop 19 (GAW19) data.
期刊介绍:
The International Journal of Biostatistics (IJB) seeks to publish new biostatistical models and methods, new statistical theory, as well as original applications of statistical methods, for important practical problems arising from the biological, medical, public health, and agricultural sciences with an emphasis on semiparametric methods. Given many alternatives to publish exist within biostatistics, IJB offers a place to publish for research in biostatistics focusing on modern methods, often based on machine-learning and other data-adaptive methodologies, as well as providing a unique reading experience that compels the author to be explicit about the statistical inference problem addressed by the paper. IJB is intended that the journal cover the entire range of biostatistics, from theoretical advances to relevant and sensible translations of a practical problem into a statistical framework. Electronic publication also allows for data and software code to be appended, and opens the door for reproducible research allowing readers to easily replicate analyses described in a paper. Both original research and review articles will be warmly received, as will articles applying sound statistical methods to practical problems.