Genetic predictors of systemic sclerosis-associated interstitial lung disease: a review of recent literature
File(s)Genetics of SSc-ILD.pdf (450.45 KB)
Accepted version
Author(s)
Stock, Carmel JW
Renzoni, Elisabetta A
Type
Journal Article
Abstract
The interplay between genetic and environmental factors is likely involved in the pathogenesis of systemic sclerosis (SSc). Interstitial lung disease associated in the context of SSc (SSc-ILD) is associated with significant morbidity, and is the leading cause of death in SSc. The spectrum of SSc-ILD severity is wide, ranging from patients with only limited and inherently stable pulmonary involvement, to those with extensive and progressive pulmonary fibrosis. In order to provide accurate prognostic information for patients, and to initiate appropriate monitoring and treatment regimens, the ability to identify patients at risk of developing severe ILD early in the disease course is crucial. Identification of genetic variants involved in disease pathogenesis can not only potentially provide diagnostic/prognostic markers, but can also highlight dysregulated molecular pathways for therapeutic targeting. A number of genetic associations have been established for susceptibility to SSc, but far fewer studies have investigated genetic susceptibility to SSc-ILD specifically. In this review we present a summary of the studies assessing genetic associations with SSc-ILD.
Date Issued
2018-02-23
Date Acceptance
2018-01-09
Citation
European Journal of Human Genetics, 2018, 26 (6), pp.765-777
ISSN
1018-4813
Publisher
Nature Publishing Group
Start Page
765
End Page
777
Journal / Book Title
European Journal of Human Genetics
Volume
26
Issue
6
Copyright Statement
© 2018 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.
Sponsor
Versus Arthritis
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/29476163
PII: 10.1038/s41431-018-0104-8
Grant Number
20719
Subjects
Science & Technology
Life Sciences & Biomedicine
Biochemistry & Molecular Biology
Genetics & Heredity
IDIOPATHIC PULMONARY-FIBROSIS
GENOME-WIDE ASSOCIATION
FUNCTIONAL POLYMORPHISM
ANTINUCLEAR ANTIBODIES
PROMOTER POLYMORPHISM
LUPUS-ERYTHEMATOSUS
SUSCEPTIBILITY LOCI
CHINESE POPULATION
GROWTH-FACTOR
RISK-FACTOR
Genetic Association Studies
Genetic Predisposition to Disease
HLA-A Antigens
Humans
Lung Diseases, Interstitial
Scleroderma, Systemic
Severity of Illness Index
Humans
Lung Diseases, Interstitial
Scleroderma, Systemic
Genetic Predisposition to Disease
HLA-A Antigens
Severity of Illness Index
Genetic Association Studies
0604 Genetics
Genetics & Heredity
Publication Status
Published
Coverage Spatial
England
Date Publish Online
2018-02-23