{"title":"基因组时代的结节病:从基因驱动到量身定制的治疗。","authors":"Natalia V Rivera, Dominique Israël-Biet","doi":"10.1007/s11882-025-01222-9","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose of review: </strong>This review aims to synthesize existing literature on the genetics of sarcoidosis, including the genetic architectures associated with various clinical phenotypes, as well as current treatment options. It will also examine studies on phenotyping and endophenotyping sarcoidosis, along with offering new perspectives into pharmacogenetics and pharmacogenomics. The latter remains largely unexplored, which could potentially lead to new opportunities and further the goals of precision medicine.</p><p><strong>Recent findings: </strong>Genetics and genomics have provided new insights into the study of sarcoidosis. According to current literature, there are variations in the genetic structure of sarcoidosis when categorized by phenotypic definitions. A common element among these findings is the HLA-DRB1 gene, which is associated with many autoimmune diseases. Genetic analysis is a valuable tool for identifying patient groups based on their genetic profiles, offering an opportunity to classify patients for targeted treatment approaches. Genetics can provide valuable insights that, when combined with other omics disciplines, can aid in diagnosing and managing sarcoidosis and help discover new disease biomarkers. Genetics improve the detection of sarcoidosis endophenotypes, and the combination of pharmacogenetics and pharmacogenomics will support the use of appropriate treatments and help eliminate unnecessary therapies in patients with specific genetic susceptibility.</p>","PeriodicalId":55198,"journal":{"name":"Current Allergy and Asthma Reports","volume":"25 1","pages":"42"},"PeriodicalIF":4.6000,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12484292/pdf/","citationCount":"0","resultStr":"{\"title\":\"Sarcoidosis in the Genomic Era: From Genetic Drivers to Tailored Therapies.\",\"authors\":\"Natalia V Rivera, Dominique Israël-Biet\",\"doi\":\"10.1007/s11882-025-01222-9\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose of review: </strong>This review aims to synthesize existing literature on the genetics of sarcoidosis, including the genetic architectures associated with various clinical phenotypes, as well as current treatment options. It will also examine studies on phenotyping and endophenotyping sarcoidosis, along with offering new perspectives into pharmacogenetics and pharmacogenomics. The latter remains largely unexplored, which could potentially lead to new opportunities and further the goals of precision medicine.</p><p><strong>Recent findings: </strong>Genetics and genomics have provided new insights into the study of sarcoidosis. According to current literature, there are variations in the genetic structure of sarcoidosis when categorized by phenotypic definitions. A common element among these findings is the HLA-DRB1 gene, which is associated with many autoimmune diseases. Genetic analysis is a valuable tool for identifying patient groups based on their genetic profiles, offering an opportunity to classify patients for targeted treatment approaches. Genetics can provide valuable insights that, when combined with other omics disciplines, can aid in diagnosing and managing sarcoidosis and help discover new disease biomarkers. Genetics improve the detection of sarcoidosis endophenotypes, and the combination of pharmacogenetics and pharmacogenomics will support the use of appropriate treatments and help eliminate unnecessary therapies in patients with specific genetic susceptibility.</p>\",\"PeriodicalId\":55198,\"journal\":{\"name\":\"Current Allergy and Asthma Reports\",\"volume\":\"25 1\",\"pages\":\"42\"},\"PeriodicalIF\":4.6000,\"publicationDate\":\"2025-09-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12484292/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Current Allergy and Asthma Reports\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s11882-025-01222-9\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ALLERGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Allergy and Asthma Reports","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s11882-025-01222-9","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ALLERGY","Score":null,"Total":0}
Sarcoidosis in the Genomic Era: From Genetic Drivers to Tailored Therapies.
Purpose of review: This review aims to synthesize existing literature on the genetics of sarcoidosis, including the genetic architectures associated with various clinical phenotypes, as well as current treatment options. It will also examine studies on phenotyping and endophenotyping sarcoidosis, along with offering new perspectives into pharmacogenetics and pharmacogenomics. The latter remains largely unexplored, which could potentially lead to new opportunities and further the goals of precision medicine.
Recent findings: Genetics and genomics have provided new insights into the study of sarcoidosis. According to current literature, there are variations in the genetic structure of sarcoidosis when categorized by phenotypic definitions. A common element among these findings is the HLA-DRB1 gene, which is associated with many autoimmune diseases. Genetic analysis is a valuable tool for identifying patient groups based on their genetic profiles, offering an opportunity to classify patients for targeted treatment approaches. Genetics can provide valuable insights that, when combined with other omics disciplines, can aid in diagnosing and managing sarcoidosis and help discover new disease biomarkers. Genetics improve the detection of sarcoidosis endophenotypes, and the combination of pharmacogenetics and pharmacogenomics will support the use of appropriate treatments and help eliminate unnecessary therapies in patients with specific genetic susceptibility.
期刊介绍:
The aim of Current Allergy and Asthma Reports is to systematically provide the views of highly selected experts on current advances in the fields of allergy and asthma and highlight the most important papers recently published. All reviews are intended to facilitate the understanding of new advances in science for better diagnosis, treatment, and prevention of allergy and asthma.
We accomplish this aim by appointing international experts in major subject areas across the discipline to review select topics emphasizing recent developments and highlighting important new papers and emerging concepts. We also provide commentaries from well-known figures in the field, and an Editorial Board of internationally diverse members suggests topics of special interest to their country/region and ensures that topics are current and include emerging research. Over a one- to two-year period, readers are updated on all the major advances in allergy and asthma.