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The role of hemochromatosis susceptibility gene mutations in protecting against iron deficiency in celiac disease

Butterworth, Jeffrey R., Cooper, Brian T., Rosenberg, William M., Purkiss, Michael, Jobson, Shirley, Hathaway, Mark, Briggs, David, Howell, W. Martin, Wood, Gordon M., Adams, David H. and Iqbal, Tariq H. (2002) The role of hemochromatosis susceptibility gene mutations in protecting against iron deficiency in celiac disease Gastroenterology, 123, (2), pp. 444-449. (doi:10.1053/gast.2002.34778).

Record type: Article


Background & Aims: Celiac disease and hereditary hemochromatosis are common HLA-defined conditions in northwestern Europe. We sought to determine whether there is a genetic relationship between the 2 diseases and if hemochromatosis susceptibility gene (HFE) mutations are protective against iron deficiency in celiac disease.
Methods: Polymerase chain reaction amplification using sequence-specific primers capable of identifying the 2 HFE gene mutations (H63D and C282Y) and the HLA class I and II alleles was used to type 145 white patients with celiac disease and 187 matched controls. Hemoglobin and fasting serum iron levels in celiac patients were measured at diagnosis.
Results: HFE gene mutations, H63D or C282Y, were identified in 70 celiac patients (48.3%) and 61 controls (32.6%) (P = 0.004). The C282Y mutation was associated with HLA-A*03 and B*07 alleles in controls and with A*01, A*03, B*08, and DRB1*0301 alleles in celiac patients; the H63D mutation was associated with HLA-A*25 and DRB1*03 alleles in controls and A*29 and DRB1*03 alleles in celiac patients. At diagnosis, celiac patients with the C282Y mutation had higher mean hemoglobin and fasting serum iron levels compared with the HFE wild type (P = 0.0002 and 0.006, respectively). This was not observed with the H63D mutation.
Conclusions: In celiac disease, HFE gene mutations are common and are in linkage disequilibrium with different HLA alleles compared with controls. A disease-specific haplotype that carries C282Y and DQB1*02 is suggested. We propose that HFE gene mutations provide a survival advantage by ameliorating the iron deficiency seen in celiac patients.

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Published date: 2002


Local EPrints ID: 26975
ISSN: 0016-5085
PURE UUID: 25fb962f-42fb-4bd9-ae93-2aca306a11e8

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Date deposited: 25 Apr 2006
Last modified: 17 Jul 2017 16:05

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Author: Jeffrey R. Butterworth
Author: Brian T. Cooper
Author: William M. Rosenberg
Author: Michael Purkiss
Author: Shirley Jobson
Author: Mark Hathaway
Author: David Briggs
Author: W. Martin Howell
Author: Gordon M. Wood
Author: David H. Adams
Author: Tariq H. Iqbal

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