CCR5-Delta32 mutation is strongly associated with primary sclerosing cholangitis
R Eri1, J R Jonsson, N Pandeya
1Brisbane IBD Research Group, Clinical Research Centre, Royal Brisbane Hospital Research Foundation, Brisbane, Australia.
Genes and Immunity
|June 25, 2004
Summary
The CCR5-Delta32 genetic variant is linked to increased susceptibility and severity in primary sclerosing cholangitis (PSC). This specific mutation, however, showed no significant association with ulcerative colitis or Crohn
Area of Science:
- Immunology
- Genetics
- Gastroenterology
Background:
- The CCR5 receptor influences T cell distribution and T helper 1 immune responses.
- CCR5-Delta32 is a common 32-base pair deletion reducing CCR5 receptor expression.
Purpose of the Study:
- To investigate the association of the CCR5-Delta32 genetic variant with susceptibility to ulcerative colitis (UC), Crohn's disease (CD), and primary sclerosing cholangitis (PSC).
- To evaluate the role of CCR5-Delta32 in disease severity, particularly in PSC.
Main Methods:
- Genotype and allelic association analyses were conducted.
- The study included 162 UC patients, 131 CD patients, 71 PSC patients, and 419 controls.
Main Results:
- A significantly higher frequency of the CCR5-Delta32 allele was observed in PSC patients (17.6%) compared to controls (9.9%) and IBD patients without PSC (11.3%).
- No significant association was found between CCR5-Delta32 and susceptibility to UC or CD.
- The CCR5-Delta32 variant was more prevalent in PSC patients with severe liver disease (45%) versus mild liver disease (21%).
Conclusions:
- The CCR5-Delta32 mutation may contribute to both susceptibility and severity of primary sclerosing cholangitis.
- CCR5-Delta32 is not significantly associated with the risk of developing ulcerative colitis or Crohn's disease.
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