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Autoimmune disease variants regulate GSDMB gene expression in human immune cells and whole blood
- Source :
- Proceedings of the National Academy of Sciences. 114
- Publication Year :
- 2017
- Publisher :
- Proceedings of the National Academy of Sciences, 2017.
-
Abstract
- There are four gasdermin (GSDM) proteins, including GSDMA, GSDMB, GSDMC, and GSDMD, in the human genome (1). Genome-wide association studies have reported genetic variants at 17q12.2.1 loci, including GSDMA , GSDMB , and ORDML3 genes, to be associated with kinds of autoimmune diseases, including asthma, type 1 diabetes, inflammatory bowel disease (IBD), and rheumatoid arthritis (1). However, the potential genetic mechanisms are unknown (1). In a recent study in PNAS, Chao et al. (1) identified that the GSDMB gene SNPs (rs2305479 G > A and rs2305480 C > T), which are associated with an increased susceptibility to asthma and IBD, could alter the structure of GSDMB, a sulfatide and phosphoinositide binding protein. In their discussion, Chao et al. (1) describe that GSDMB may … [↵][1]1To whom correspondence may be addressed. Email: liuguiyou1981{at}163.com or qhjiang{at}hit.edu.cn. [1]: #xref-corresp-1-1
- Subjects :
- 0301 basic medicine
Autoimmune disease
Multidisciplinary
Models, Genetic
Quantitative Trait Loci
Chromosome Mapping
Single-nucleotide polymorphism
Biology
medicine.disease
Inflammatory bowel disease
Autoimmune Diseases
Neoplasm Proteins
03 medical and health sciences
030104 developmental biology
Immune system
Rheumatoid arthritis
Immunology
medicine
Humans
Genetic Predisposition to Disease
Human genome
Letters
Gene
Genetic association
Subjects
Details
- ISSN :
- 10916490 and 00278424
- Volume :
- 114
- Database :
- OpenAIRE
- Journal :
- Proceedings of the National Academy of Sciences
- Accession number :
- edsair.doi.dedup.....132d042a2be9ae7426c3a7cfdbe95e45
- Full Text :
- https://doi.org/10.1073/pnas.1712127114