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• W1992823706 abstract "Dear Sir, Coagulation factor (F)XIII plays an important role in fibrin clot stability. In 1994, a commonly occurring Val34Leu polymorphism in the gene encoding FXIII subunit A was identified. Activation of the Leu34 variant by thrombin proceeds more rapidly than that of the Val34 variant [1Ariëns R.A. Lai T.S. Weisel J.W. Greenberg C.S. Grant P.J. Role of factor XIII in fibrin clot formation and effects of genetic polymorphisms.Blood. 2002; 100: 743-54Crossref PubMed Scopus (305) Google Scholar]. This alteration in FXIII activation kinetics appears to affect the structure of the fibrin clot. In vitro, the fibrin cross-linked by the Leu34 variant has thinner fibers and altered permeation characteristics, which might influence the risk of clinical thrombosis [2Ariëns R.A. Philippou H. Nagaswami C. Weisel J.W. Lane D.A. Grant P.J. The factor XIII V34L polymorphism accelerates thrombin activation of factor XIII and affects cross-linked fibrin structure.Blood. 2000; 96: 988-95Crossref PubMed Google Scholar]. The Leu34 variant of the Val34Leu polymorphism seems to have a weak protective effect on venous thrombosis [3Van Hylckama Vlieg A. Komanasin N. Ariëns R.A. Poort S.R. Grant P.J. Bertina R.M. Factor XIII Val34Leu polymorphism, factor XIII antigen levels and activity and the risk of deep venous thrombosis.Br J Haematol. 2002; 119: 169-75Crossref PubMed Scopus (67) Google Scholar]. Results of studies investigating the effect on myocardial infarction (MI) are inconsistent, which might be explained by the risk being gender-specific or being confined to the young, in whom genetic risk factors might play a more important role than in the elderly. Recently, an A→G transition in codon 95 of the gene encoding subunit B of FXIII (factor XIIIB), which causes a replacement of histidine with arginine, was identified. The His95Arg polymorphism is relatively common, and was associated with an increased dissociation rate of the FXIII A2B2 tetramer following activation by thrombin [4Komanansin N. Futers T.S. Ariëns R.A.S. Grant P.J. A novel polymorphism in the factor XIII B subunit (His95Arg) relates to the dissociation of the A2B2 tetramer.Thromb Haemost. 1999; 82: 111aGoogle Scholar]. In a case–control study of postmenopausal women, the Arg95 allele, by itself, showed little association with the risk of myocardial infarction, although it appeared to modify the risk associated with the Leu34 allele [5Reiner AP, Heckbert SR, Vos HL, Ariëns RAS, Lemaitre RN, Smith NL, Lumley T, Rea TD, Hindorff L, Schellenbaum GD, Rosendaal FR, Siscovick DS, Psaty BM. Genetic variants of coagulation factor XIII, post-menopausal estrogen therapy, and risk of non-fatal myocardial infarction. Blood Online 2002; November.Google Scholar]. The risk for myocardial infarction of the Arg95 allele alone or in combination with the Leu34 allele among men has not been studied yet. The aim of the present study was to investigate the separate and combined effects of the Val34Leu polymorphism in FXIIIA gene and the His95Arg polymorphism in FXIIIB gene among 560 men with a MI and 646 control subjects in a large population-based case–control study ‘Study of Myocardial Infarctions Leiden’ (SMILE). Patients were men below the age of 70 years consecutively diagnosed with a first MI between January 1990 and January 1996. The control group also consisted of men, frequency matched for age to the patients. All men were born in the Netherlands. The mean age of patients was 56.2 (range 32.1–70.1) years and of control subjects 57.3 (range 27.2–74.8) years. The study protocol was approved by the Ethical Committee of the Leiden University Medical Center, the Netherlands and all subjects gave informed consent. Details of the study have been described elsewhere [6Doggen C.J.M. Manger Cats V. Bertina R.M. Rosendaal F.R. Interaction of coagulation defects and cardiovascular risk factors: increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A.Circulation. 1998; 97: 1037-41Crossref PubMed Google Scholar]. DNA obtained from white blood cells drawn from the antecubital vein was available for all subjects. The detection method of the Val34Leu polymorphism has been described previously [3Van Hylckama Vlieg A. Komanasin N. Ariëns R.A. Poort S.R. Grant P.J. Bertina R.M. Factor XIII Val34Leu polymorphism, factor XIII antigen levels and activity and the risk of deep venous thrombosis.Br J Haematol. 2002; 119: 169-75Crossref PubMed Scopus (67) Google Scholar]. The detection of the His95Arg polymorphism was performed using the restriction enzyme Mph1103I (MBI Fermentas), which is an isoschizomer of NsiI. The forward primer was 5′-AAA GAC AAG CTT AGT TTC ATC ATT-3′ and the reverse primer was 5′-TCT TCA GTT TAG GAA ATG ATT CTT AT-3′. Amplification conditions were an initial denaturation of 4 min at 95 °C, followed by 33 cycles of 1 min at 94 °C, 1 min at 57 °C and 90 s at 68 °C followed by a final extension of 4 min at 68 °C. An odds ratio (OR) was calculated as a measure of relative risk. This OR estimates the risk of a MI in the presence of a risk factor, i.e. the Leu34 allele, relative to the absence of the particular risk factor, the reference category consisting of non-carriers. The frequency of the Leu34 allele of the Val34Leu polymorphism in the gene for FXIIIA was 26.0% among 560 patients with a MI, compared with 25.4% among 646 control subjects (Table 1). The distribution of genotypes among control subjects was as expected for a population in Hardy–Weinberg equilibrium. Heterozygous carriership of the Leu34 allele compared with homozygous carriers of the Val34 allele was not associated with the risk of MI [OR 0.9; 95% confidence interval (CI) 0.7, 1.2]. The OR for homozygous carriers of the Leu34 allele was 1.3 (CI 0.8, 2.0). In the subgroup of men below the age of 50, the OR of MI was 1.4 (CI 0.9, 2.2) for heterozygous and 1.5 (CI 0.6, 3.6) for homozygous carriers of the Leu34 allele compared with non-carriers.Table 1Genotypes and allele frequencies of the factor XIII Val34Leu and His95Arg polymorphisms in patients with myocardial infarction and control subjectsNumber of patients (%)Number of control subjects (%)Odds ratio (95% CI)Factor XIIIA Val34LeuValVal313 (55.9)358 (55.4)1ValLeu203 (36.3)248 (38.4)0.9 (0.7, 1.2)LeuLeu44 (7.9)40 (6.2)1.3 (0.8, 2.0)Frequency Leu allele26.0%25.4%Total560646<50 yearsValVal75 (48.7)91 (56.9)1ValLeu67 (43.5)59 (36.9)1.4 (0.9, 2.2)LeuLeu12 (7.8)10 (6.3)1.5 (0.6, 3.6)Frequency Leu allele29.5%24.7%Total154160Factor XIIIB His95ArgHisHis464 (82.9)521 (80.7)1HisArg93 (16.6)114 (17.6)0.9 (0.7, 1.2)ArgArg3 (0.5)11 (1.7)0.3 (0.1, 1.1)Frequency Arg allele8.8%10.5%Total560646<50 yearsHisHis124 (80.5)124 (77.5)1HisArg29 (18.8)34 (21.3)0.8 (0.5, 1.5)ArgArg1 (0.6)2 (1.3)0.5 (0.1, 5.6)Frequency Arg allele10.1%11.9%Total154160 Open table in a new tab The frequency of the Arg95 allele of the His95Arg polymorphism in the FXIIIB gene was 8.8% among patients with MI compared with 10.5% among control subjects. The distribution of this polymorphism in control subjects was as expected for a population in Hardy–Weinberg equilibrium. The OR of MI for heterozygous carriers of the Arg95 allele was 0.9 (CI 0.7, 1.2) and for homozygous carriers 0.3 (CI 0.1, 1.1) compared with homozygous non-carriers. These risk estimates were similar for men below the age of 50, respectively, 0.8 (CI 0.5, 1.5) and 0.5 (CI 0.1, 5.6). Compared with the reference group of homozygous carriers for both common alleles, no association with MI was found for men who carried either the Leu34 allele alone, the Arg95 allele alone, or both alleles. Similar results were found for men below the age of 50. Among homozygous carriers of the Val34 allele, the ORs for heterozygous and homozygous carriers of the Arg95 allele were, respectively, 0.8 (CI 0.5, 1.3) and 0.3 (CI 0.1, 1.5) compared with homozygous His95 carriers. In conclusion, our results indicate that the Val34Leu polymorphism in the FXIIIA gene is not associated with a decreased risk of MI in men under the age of 70. The risk of MI for carriers of the Leu34 allele may even be increased in young men. The risk of MI for heterozygous carriers of the Arg95 allele of the FXIIIB His95Arg polymorphism is not decreased, in contrast to homozygous carriers in whom the risk seems 0.3-fold decreased. There was no evidence of interaction between the two FXIII polymorphisms. In a study among postmenopausal women carriership of a single Arg95 allele was not associated with MI [5Reiner AP, Heckbert SR, Vos HL, Ariëns RAS, Lemaitre RN, Smith NL, Lumley T, Rea TD, Hindorff L, Schellenbaum GD, Rosendaal FR, Siscovick DS, Psaty BM. Genetic variants of coagulation factor XIII, post-menopausal estrogen therapy, and risk of non-fatal myocardial infarction. Blood Online 2002; November.Google Scholar], whereas the risk among homozygous Arg95 carriers was 0.3-fold decreased. These results are similar to our findings. The combined presence of the Leu34 allele and the Arg95 allele decreased the risk of MI in women, but not in our study among men. Although the number of homozygous carriers of the Arg95 allele was quite small in both studies, the decreased risk is an interesting finding, which deserves further investigation. This research was funded by the Netherlands Heart Foundation (Grant no. 92.345). C.J.M.D. was supported by the Netherlands Organization for Scientific Research (NWO grant no. S94-191)." @default.
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• W1992823706 title "Two factor XIII gene polymorphisms associated with a structural and functional defect and the risk of myocardial infarction in men" @default.
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