{"title":"自身免疫性风湿病的遗传成分","authors":"Daniela Juárez-Melchor , Pamela Munguía-Realpozo , Claudia Mendoza-Pinto , Ivet Etchegaray-Morales , Jorge Ayón-Aguilar , Socorro Mendez-Martínez , Mario García-Carrasco , Julio Granados Arriola","doi":"10.1016/j.reumae.2021.08.001","DOIUrl":null,"url":null,"abstract":"<div><p><span><span>The purpose of this review is to present the main aspects of the genetic component of autoimmune rheumatic diseases<span>, including the characteristics of the multifactorial or polygenic inheritance model, and its monogenic forms, as well as the main associated genes in both cases. The epigenetic changes involved, and the influence of the environment and sex that confer greater risk to women suffering from any of these diseases. Finally, to make known the advances that the study of </span></span>omic sciences has allowed, opening the way to a new molecular classification of these diseases, aimed at personalized medicine. A review of the literature of the last 5 years, of English-language publications, in the PubMed database was performed and 28 review articles, and 19 original articles were included. Knowledge of the </span>genetic factors<span><span> involved in the aetiology of autoimmune rheumatic diseases, thanks to the availability of molecular studies, allows a better understanding of their pathophysiology and the possibility of diagnosis and </span>treatment based on molecular markers in the future.</span></p></div>","PeriodicalId":94193,"journal":{"name":"Reumatologia clinica","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genetic component of autoimmune rheumatological diseases\",\"authors\":\"Daniela Juárez-Melchor , Pamela Munguía-Realpozo , Claudia Mendoza-Pinto , Ivet Etchegaray-Morales , Jorge Ayón-Aguilar , Socorro Mendez-Martínez , Mario García-Carrasco , Julio Granados Arriola\",\"doi\":\"10.1016/j.reumae.2021.08.001\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p><span><span>The purpose of this review is to present the main aspects of the genetic component of autoimmune rheumatic diseases<span>, including the characteristics of the multifactorial or polygenic inheritance model, and its monogenic forms, as well as the main associated genes in both cases. The epigenetic changes involved, and the influence of the environment and sex that confer greater risk to women suffering from any of these diseases. Finally, to make known the advances that the study of </span></span>omic sciences has allowed, opening the way to a new molecular classification of these diseases, aimed at personalized medicine. A review of the literature of the last 5 years, of English-language publications, in the PubMed database was performed and 28 review articles, and 19 original articles were included. Knowledge of the </span>genetic factors<span><span> involved in the aetiology of autoimmune rheumatic diseases, thanks to the availability of molecular studies, allows a better understanding of their pathophysiology and the possibility of diagnosis and </span>treatment based on molecular markers in the future.</span></p></div>\",\"PeriodicalId\":94193,\"journal\":{\"name\":\"Reumatologia clinica\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Reumatologia clinica\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2173574321002148\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Reumatologia clinica","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2173574321002148","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Genetic component of autoimmune rheumatological diseases
The purpose of this review is to present the main aspects of the genetic component of autoimmune rheumatic diseases, including the characteristics of the multifactorial or polygenic inheritance model, and its monogenic forms, as well as the main associated genes in both cases. The epigenetic changes involved, and the influence of the environment and sex that confer greater risk to women suffering from any of these diseases. Finally, to make known the advances that the study of omic sciences has allowed, opening the way to a new molecular classification of these diseases, aimed at personalized medicine. A review of the literature of the last 5 years, of English-language publications, in the PubMed database was performed and 28 review articles, and 19 original articles were included. Knowledge of the genetic factors involved in the aetiology of autoimmune rheumatic diseases, thanks to the availability of molecular studies, allows a better understanding of their pathophysiology and the possibility of diagnosis and treatment based on molecular markers in the future.
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