» Articles » PMID: 19302045

Recent Advances in the Genetics of Autoimmune Disease

Overview
Date 2009 Mar 24
PMID 19302045
Citations 127
Authors
Affiliations
Soon will be listed here.
Abstract

Extraordinary technical advances in the field of human genetics over the past few years have catalyzed an explosion of new information about the genetics of human autoimmunity. In particular, the ability to scan the entire genome for common polymorphisms that associate with disease has led to the identification of numerous new risk genes involved in autoimmune phenotypes. Several themes are emerging. Autoimmune disorders have a complex genetic basis; multiple genes contribute to disease risk, each with generally modest effects independently. In addition, it is now clear that common genes underlie multiple autoimmune disorders. There is also heterogeneity among subphenotypes within a disease and across major racial groups. The current crop of genetic associations are only the start of a complete catalog of genetic factors for autoimmunity, and it remains unclear to what extent common variation versus multiple rare variants contribute to disease susceptibility. The current review focuses on recent discoveries within functionally related groups of genes that provide clues to novel pathways of pathogenesis for human autoimmunity.

Citing Articles

MDA5 Is a Major Determinant of Developing Symptoms in Critically Ill COVID-19 Patients.

Maiti A Clin Rev Allergy Immunol. 2024; 67(1-3):58-72.

PMID: 39460899 DOI: 10.1007/s12016-024-09008-z.


A Comprehensive Review of Upper Gastrointestinal Symptom Management in Autoimmune Gastritis: Current Insights and Future Directions.

Singh S, Chakole S, Agrawal S, Shetty N, Prasad R, Lohakare T Cureus. 2023; 15(8):e43418.

PMID: 37706145 PMC: 10496934. DOI: 10.7759/cureus.43418.


VDR Gene Single Nucleotide Polymorphisms and Autoimmunity: A Narrative Review.

Agliardi C, Guerini F, Bolognesi E, Zanzottera M, Clerici M Biology (Basel). 2023; 12(7).

PMID: 37508347 PMC: 10376382. DOI: 10.3390/biology12070916.


Association of Alopecia Areata with Sensorineural Hearing Loss: A Systematic Review and Meta-analysis.

Lien K, Ger T, Chi C Dermatology. 2023; 239(4):523-532.

PMID: 37094565 PMC: 10407832. DOI: 10.1159/000530784.


Delivery route considerations for designing antigen-specific biomaterial strategies to combat autoimmunity.

Ackun-Farmmer M, Jewell C Adv Nanobiomed Res. 2023; 3(3).

PMID: 36938103 PMC: 10019031. DOI: 10.1002/anbr.202200135.


References
1.
Klareskog L, Ronnelid J, Lundberg K, Padyukov L, Alfredsson L . Immunity to citrullinated proteins in rheumatoid arthritis. Annu Rev Immunol. 2008; 26:651-75. DOI: 10.1146/annurev.immunol.26.021607.090244. View

2.
Honda K, Taniguchi T . IRFs: master regulators of signalling by Toll-like receptors and cytosolic pattern-recognition receptors. Nat Rev Immunol. 2006; 6(9):644-58. DOI: 10.1038/nri1900. View

3.
Simoncic P, Lee-Loy A, Barber D, Tremblay M, McGlade C . The T cell protein tyrosine phosphatase is a negative regulator of janus family kinases 1 and 3. Curr Biol. 2002; 12(6):446-53. DOI: 10.1016/s0960-9822(02)00697-8. View

4.
Waid D, Vaitaitis G, Pennock N, Wagner Jr D . Disruption of the homeostatic balance between autoaggressive (CD4+CD40+) and regulatory (CD4+CD25+FoxP3+) T cells promotes diabetes. J Leukoc Biol. 2008; 84(2):431-9. PMC: 2493071. DOI: 10.1189/jlb.1207857. View

5.
Shin H, Sung Y, Choi C, Lee S, Lee H, Bae S . Replication of the genetic effects of IFN regulatory factor 5 (IRF5) on systemic lupus erythematosus in a Korean population. Arthritis Res Ther. 2007; 9(2):R32. PMC: 1906810. DOI: 10.1186/ar2152. View