Abstract
Genetic studies of systemic lupus erythematosus (SLE) have been successful, identifying numerous risk factors for human disease. While the list is not yet complete, it is clear that important immune system pathways are represented, one of which being type I interferon (IFN). Circulating type I IFN levels are high in SLE patients and this IFN pathway activation is heritable in families with SLE. We summarize our current understanding of the genetics of the type I IFN pathway in SLE, with an emphasis on studies that demonstrate an impact of the SLE-risk alleles upon type I IFN pathway activation in SLE patients. These studies illustrate that variations in type I IFN pathway genes represent a common genetic feature of SLE. By understanding the genetic regulation of type I IFN, we may be able to intervene in a more personalized fashion, based upon the molecular dysregulation present in a given individual.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 657-669 |
| Number of pages | 13 |
| Journal | International Journal of Clinical Rheumatology |
| Volume | 8 |
| Issue number | 6 |
| DOIs | |
| State | Published - 2013 |
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Keywords
- autoantibodies
- autoimmune diseases
- genetics
- interferon
- systemic lupus erythematosus
ASJC Scopus subject areas
- Rheumatology
Cite this
Genetics of the type I interferon pathway in systemic lupus erythematosus. / Ghodke-Puranik, Yogita; Niewold, Timothy B.
In: International Journal of Clinical Rheumatology, Vol. 8, No. 6, 2013, p. 657-669.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Genetics of the type I interferon pathway in systemic lupus erythematosus
AU - Ghodke-Puranik, Yogita
AU - Niewold, Timothy B.
PY - 2013
Y1 - 2013
N2 - Genetic studies of systemic lupus erythematosus (SLE) have been successful, identifying numerous risk factors for human disease. While the list is not yet complete, it is clear that important immune system pathways are represented, one of which being type I interferon (IFN). Circulating type I IFN levels are high in SLE patients and this IFN pathway activation is heritable in families with SLE. We summarize our current understanding of the genetics of the type I IFN pathway in SLE, with an emphasis on studies that demonstrate an impact of the SLE-risk alleles upon type I IFN pathway activation in SLE patients. These studies illustrate that variations in type I IFN pathway genes represent a common genetic feature of SLE. By understanding the genetic regulation of type I IFN, we may be able to intervene in a more personalized fashion, based upon the molecular dysregulation present in a given individual.
AB - Genetic studies of systemic lupus erythematosus (SLE) have been successful, identifying numerous risk factors for human disease. While the list is not yet complete, it is clear that important immune system pathways are represented, one of which being type I interferon (IFN). Circulating type I IFN levels are high in SLE patients and this IFN pathway activation is heritable in families with SLE. We summarize our current understanding of the genetics of the type I IFN pathway in SLE, with an emphasis on studies that demonstrate an impact of the SLE-risk alleles upon type I IFN pathway activation in SLE patients. These studies illustrate that variations in type I IFN pathway genes represent a common genetic feature of SLE. By understanding the genetic regulation of type I IFN, we may be able to intervene in a more personalized fashion, based upon the molecular dysregulation present in a given individual.
KW - autoantibodies
KW - autoimmune diseases
KW - genetics
KW - interferon
KW - systemic lupus erythematosus
UR - http://www.scopus.com/inward/record.url?scp=84896991922&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84896991922&partnerID=8YFLogxK
U2 - 10.2217/ijr.13.58
DO - 10.2217/ijr.13.58
M3 - Article
AN - SCOPUS:84896991922
VL - 8
SP - 657
EP - 669
JO - Future Rheumatology
JF - Future Rheumatology
SN - 1758-4272
IS - 6
ER -