Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (6)
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Altarescu, G.
Right arrow Articles by Mates, M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Altarescu, G.
Right arrow Articles by Mates, M.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Q J Med 2003; 96: 575-578
© 2003 Association of Physicians

The interleukin-6 promoter polymorphism in Gaucher disease: a new modifier gene?

G. Altarescu1,3, M. Phillips2, A.J. Foldes4, D. Elstein2, A. Zimran2,3 and M. Mates3

From the 1Genetics Institute, 2Gaucher Clinic, and 3Department of Medicine, Shaare Zedek Medical Center, and 4Osteoporosis Center, Hadassah University Hospital, Jerusalem, Israel

Received 3 February 2003 and in revised form 24 April 2003

Background: Individuals with Gaucher disease vary significantly with regard to degree of bone disease, but there are no predictive markers for severity of skeletal involvement.

Aim: To determine the frequency of polymorphisms of interleukin-6 (IL-6) among patients with Gaucher disease, and the relationship to bone mineral density (BMD) and other markers of disease severity.

Design: Case-control study.

Methods: Genotyping for the 174G -> C promoter polymorphism of IL-6 was performed in adult patients with Gaucher disease for whom there was concurrent bone mineral density (BMD) data and in healthy Ashkenazi Jewish controls.

Results: The prevalence of allelic variants (58% G/G, 36% G/C, and 6% C/C) was similar in Ashkenazi Jewish adults with Gaucher disease as in Ashkenazi Jewish controls, but significantly different (p < 0.05) from that reported among Caucasians. No statistically significant correlation was found between IL-6 genotypes and BMD or markers of severity of Gaucher disease. Patients with the C/C genotype had relatively mild Gaucher disease.

Discussion: The IL-6 polymorphisms appear to be distributed differently in Ashkenazi Jews than among other Caucasians. In Gaucher disease, the C/C genotype may be associated with a milder Gaucher phenotype, and may serve as a mitigating genetic modifier.

Address correspondence to Dr D. Elstein, Gaucher Clinic, Shaare Zedek Medical Center, P.O. Box 3235, Jerusalem 91031, Israel. e-mail: gaucher{at}szmc.org.il


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 J. Med. Genet.Home page
O Goker-Alpan, K S Hruska, E Orvisky, P S Kishnani, B K Stubblefield, R Schiffmann, and E Sidransky
Divergent phenotypes in Gaucher disease implicate the role of modifiers
J. Med. Genet., June 1, 2005; 42(6): e37 - e37.
[Abstract] [Full Text] [PDF]


Disclaimer:
Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.