Genetics and epigenetics of chronic rhinosinusitis

被引:21
|
作者
Lal, Devyani [1 ,10 ]
Brar, Tripti [1 ]
Ramkumar, Shreya Pusapadi [1 ,2 ]
Li, Jingyun [3 ,4 ,5 ,6 ,7 ,8 ]
Kato, Atsushi [9 ]
Zhang, Luo [3 ,4 ,5 ,6 ,7 ,8 ]
机构
[1] Mayo Clin Arizona, Dept Otolaryngol Head & Neck Surg, Phoenix, AZ USA
[2] St Louis Univ, Sch Med, St Louis, MO USA
[3] Capital Med Univ, Beijing Tongren Hosp, Dept Otolaryngol Head & Neck Surg, Beijing, Peoples R China
[4] Capital Med Univ, Beijing Tongren Hosp, Beijing, Peoples R China
[5] Capital Med Univ, Beijing Tongren Hosp, Dept Allergy, Beijing, Peoples R China
[6] Beijing Inst Otolaryngol, Beijing Lab Allerg Dis, Beijing, Peoples R China
[7] Beijing Inst Otolaryngol, Beijing Key Lab Nasal Dis, Beijing, Peoples R China
[8] Chinese Acad Med Sci, Res Unit Diag & Treatment Chron Nasal Dis, Beijing, Peoples R China
[9] Northwestern Univ, Div Allergy & Immunol, Feinberg Sch Med, Chicago, IL USA
[10] Mayo Clin Arizona, Div Rhinol, 5777 E Mayo Blvd, Phoenix, AZ 85054 USA
基金
美国国家卫生研究院;
关键词
Genetics; genomics; epigenetics; epigenomics; tran-scriptomics; GWAS; sinusitis; CRS; chronic rhinosinusitis; nasal polyps; RNA; RNA-Seq; cystic fibrosis; primary ciliary dyskinesia; review; EOSINOPHILIC CHRONIC RHINOSINUSITIS; GENOME-WIDE ASSOCIATION; NASAL POLYPS; CYSTIC-FIBROSIS; RECEPTOR; PROMOTER POLYMORPHISMS; CYTOKINE PROFILES; RISK-FACTOR; EXPRESSION; GENES;
D O I
10.1016/j.jaci.2023.01.004
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
Discerning the genetics and epigenetics of chronic rhinosinusitis (CRS) may optimize outcomes through early diagnostics, personalized and novel therapeutics, and early prognostication. CRS associated with cystic fibrosis and primary ciliary dyskinesia has well-characterized genetic mutations. Most CRS subjects, however, do not exhibit identifiable monogenic alterations. Clustering in related individuals is seen in CRS with nasal polyps. Spouses of subjects with CRS without nasal polyps also may be at increased risk of the same disease. These observations generate questions on genetic and environmental influences in CRS. Genome-wide association studies have identified variations and polymorphisms between CRS and control subjects in genes related to innate and adaptive immunity. Candidate gene and transcriptomics studies have investigated and identified genetic variations related to immunity, inflammation, epithelial barrier function, stress- response, antigen processing, T-cell regulation, and cytokines in CRS. Epigenetic studies have identified mechanisms through which environmental factors may affect these gene functions. However, causality is not determined for most variations. Inferences drawn from these data must be measured because most investigations report unreplicated results from small study populations. Large, replicated studies in tight cohorts across diverse populations remain a pressing need in studying CRS genetics.
引用
收藏
页码:848 / 868
页数:21
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