Prevalence of Factor V G1691A (Leiden), Prothrombin G20210A, and Methylene Tetrahydrofolate Reductase C677T Thrombophilic Mutations in Children With Inflammatory Bowel Disease
| Autor: | Martin H. Ulshen, Russell E. Ware, Howard A. Kader, William R. Treem, Wallace F. Berman, Amal S. Al-Seraihy |
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| Rok vydání: | 2002 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent Genotype Restriction Mapping Population Polymerase Chain Reaction Gastroenterology Cohort Studies Gene Frequency Risk Factors Thromboembolism Internal medicine Prevalence Factor V Leiden Humans Medicine Genetic Predisposition to Disease Protein S deficiency Allele Child education Allele frequency Methylenetetrahydrofolate Reductase (NADPH2) Genetics Oxidoreductases Acting on CH-NH Group Donors education.field_of_study biology business.industry Factor V Inflammatory Bowel Diseases medicine.disease digestive system diseases Child Preschool Methylenetetrahydrofolate reductase Mutation Pediatrics Perinatology and Child Health biology.protein Prothrombin G20210A Female Prothrombin business |
| Zdroj: | Journal of Pediatric Gastroenterology and Nutrition. 35:629-635 |
| ISSN: | 0277-2116 |
| Popis: | Background Patients with inflammatory bowel disease (IBD) have an increased incidence of thromboembolic events. This risk may be caused by an increased frequency of thrombophilic mutations such as factor V Leiden G1691A (FVL), prothrombin G20210A (PT), or methylene tetrahydrofolate reductase C667T (MTHFR). Prevalence rates of heterozygous mutations in FVL, PT, and MTHFR are reported for whites (1.8%, 1.3%, 26.6%, respectively), blacks (0.8%, 0.3%, and 12.4%, respectively), and Hispanics (1.2%, 2.4%, and 41.5%, respectively). We sought to determine the prevalence of these thrombophilic mutations in a large cohort of children with IBD. Methods Children aged 21 years or younger with IBD were genotyped for FVL, PT, and MTHFR mutations by polymerase chain reaction amplification and restriction enzyme digestion. Prevalence rates were compared with established rates in the respective populations. Results Of 92 patients enrolled, 89 (62 with Crohn disease, 24 with ulcerative colitis, and 3 with indeterminate colitis) had genotype results available. The mean age was 13.3 +/- 4.2 years (range, 2-21 years). Statistical analysis was performed on 89 FVL, PT, and MTHFR allele pairs. Polymerase chain reaction genotyping identified 5 patients with heterozygous FVL mutations, 3 patients heterozygous for the PT mutation, and 36 patients heterozygous and 4 patients homozygous for the MTHFR mutation. The thrombophilic allele mutation frequencies in our sample were not significantly different from predicted weighted average values: FVL, 2.8% versus 1.5%; PT, 1.7% versus 1.1%; and MTHFR, 24.7% versus 24.4%. In 24 patients with a family history of thrombosis, 1 was heterozygous for FVL and for MTHFR, 1 was heterozygous for FVL and homozygous for MTHFR, 2 were heterozygous for PT, and 9 were heterozygous MTHFR. There was no significant correlation between family history of thrombosis and presence of a thrombophilic mutation. The four patients with homozygous mutations for MTHFR, two of whom also were heterozygous for FVL, did not have either a personal history of thrombosis or a family history of thrombotic events. Two patients had thrombotic events without mutations in these genotypes: one had protein S deficiency and the other had no identifiable cause. Conclusions The presence of genetic mutations that predispose to hypercoagulable states does not appear to correlate with the prevalence of IBD or to thromboembolic events in patients with IBD. There was no statistical difference between the proportions of the mutated allele frequency in our study patients and the general population. |
| Databáze: | OpenAIRE |
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