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Increased prevalence of methylenetetrahydrofolate reductase C677T variant in patients with inflammatory bowel disease, and its clinical implications.
Gut 1999; 45(3):389-94Gut

Abstract

BACKGROUND

Inflammatory bowel disease (IBD) is associated with an increased incidence of thromboembolic disease. Hyperhomocysteinaemia (hyper-tHcy), a condition associated with the C677T variant of 5, 10-methylenetetrahydrofolate reductase (MTHFR), is linked with an increased incidence of thromboembolic disease. Hyper-tHcy has been reported in patients with IBD.

AIMS

To assess the prevalence of the C677T MTHFR genotype and the contribution of this genotype to hyper-tHcy in patients with IBD.

METHODS

Patients with established IBD (n=174) and healthy controls (n=273) were studied. DNA samples were genotyped for the MTHFR (C677T) mutation. Subjects were categorised as homozygous for the thermolabile variant (TT), heterozygous for wild type and variant (CT), or homozygous for the wild type (CC).

RESULTS

Plasma homocysteine concentrations were significantly higher in patients with IBD than in healthy controls. A total of 17.5% of ulcerative colitis and 16.8% of Crohn's disease patients were homozygous for the C677T variant compared with 7.3% of controls. Homozygosity (TT) for the variant was associated with higher plasma tHcy levels in patients with IBD and in healthy controls. When all subjects who were TT for the variant were excluded, median plasma tHcy was still significantly higher in IBD than controls. Plasma vitamin B(12) levels were lower in patients with IBD irrespective of MTHFR genotype.

CONCLUSIONS

There is an association between the thermolabile MTHFR C677T variant and IBD. This accounts in part for the raised plasma tHcy found in patients with IBD and may contribute to the increased incidence of thromboembolic complications. All patients with IBD should receive low dose folic acid and vitamin B(12) therapy to protect against the thromboembolic complications of raised tHcy.

Authors+Show Affiliations

Department of Clinical Medicine, Trinity College, University of Dublin, Ireland.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

10446107

Citation

Mahmud, N, et al. "Increased Prevalence of Methylenetetrahydrofolate Reductase C677T Variant in Patients With Inflammatory Bowel Disease, and Its Clinical Implications." Gut, vol. 45, no. 3, 1999, pp. 389-94.
Mahmud N, Molloy A, McPartlin J, et al. Increased prevalence of methylenetetrahydrofolate reductase C677T variant in patients with inflammatory bowel disease, and its clinical implications. Gut. 1999;45(3):389-94.
Mahmud, N., Molloy, A., McPartlin, J., Corbally, R., Whitehead, A. S., Scott, J. M., & Weir, D. G. (1999). Increased prevalence of methylenetetrahydrofolate reductase C677T variant in patients with inflammatory bowel disease, and its clinical implications. Gut, 45(3), pp. 389-94.
Mahmud N, et al. Increased Prevalence of Methylenetetrahydrofolate Reductase C677T Variant in Patients With Inflammatory Bowel Disease, and Its Clinical Implications. Gut. 1999;45(3):389-94. PubMed PMID: 10446107.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Increased prevalence of methylenetetrahydrofolate reductase C677T variant in patients with inflammatory bowel disease, and its clinical implications. AU - Mahmud,N, AU - Molloy,A, AU - McPartlin,J, AU - Corbally,R, AU - Whitehead,A S, AU - Scott,J M, AU - Weir,D G, PY - 1999/8/14/pubmed PY - 1999/8/14/medline PY - 1999/8/14/entrez SP - 389 EP - 94 JF - Gut JO - Gut VL - 45 IS - 3 N2 - BACKGROUND: Inflammatory bowel disease (IBD) is associated with an increased incidence of thromboembolic disease. Hyperhomocysteinaemia (hyper-tHcy), a condition associated with the C677T variant of 5, 10-methylenetetrahydrofolate reductase (MTHFR), is linked with an increased incidence of thromboembolic disease. Hyper-tHcy has been reported in patients with IBD. AIMS: To assess the prevalence of the C677T MTHFR genotype and the contribution of this genotype to hyper-tHcy in patients with IBD. METHODS: Patients with established IBD (n=174) and healthy controls (n=273) were studied. DNA samples were genotyped for the MTHFR (C677T) mutation. Subjects were categorised as homozygous for the thermolabile variant (TT), heterozygous for wild type and variant (CT), or homozygous for the wild type (CC). RESULTS: Plasma homocysteine concentrations were significantly higher in patients with IBD than in healthy controls. A total of 17.5% of ulcerative colitis and 16.8% of Crohn's disease patients were homozygous for the C677T variant compared with 7.3% of controls. Homozygosity (TT) for the variant was associated with higher plasma tHcy levels in patients with IBD and in healthy controls. When all subjects who were TT for the variant were excluded, median plasma tHcy was still significantly higher in IBD than controls. Plasma vitamin B(12) levels were lower in patients with IBD irrespective of MTHFR genotype. CONCLUSIONS: There is an association between the thermolabile MTHFR C677T variant and IBD. This accounts in part for the raised plasma tHcy found in patients with IBD and may contribute to the increased incidence of thromboembolic complications. All patients with IBD should receive low dose folic acid and vitamin B(12) therapy to protect against the thromboembolic complications of raised tHcy. SN - 0017-5749 UR - https://www.unboundmedicine.com/medline/citation/10446107/Increased_prevalence_of_methylenetetrahydrofolate_reductase_C677T_variant_in_patients_with_inflammatory_bowel_disease_and_its_clinical_implications_ L2 - http://gut.bmj.com/cgi/pmidlookup?view=long&pmid=10446107 DB - PRIME DP - Unbound Medicine ER -