Tyr204Phe and Val34Leu polymorphisms in two Brazilian ethnic groups and in patients with recurrent miscarriages

Barbosa, Helena C.; Carvalho, Egle Cristina Couto de; Barini, Ricardo; Siqueira, Lúcia H.; Costa, Devanira S.P.; Annichino‐Bizzacchi, Joyce Maria

doi:10.1016/j.fertnstert.2004.04.052

Cited by 19 publications

(25 citation statements)

References 8 publications

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“…A frequency of 3.5% for the FXIII Tyr204Phe variant has been previously described in another Brazilian sample [8], almost identical to that found in our control subjects (3.6%).…”

supporting

confidence: 89%

Coagulation factor XIII Tyr204Phe gene variant and the risk of ischemic stroke

Landau¹,

Renni

Zalis

et al. 2013

Journal of Thrombosis and Haemostasis

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To cite this article: Landau MB, Renni MS, Zalis MG, Spector N, Gadelha T. Coagulation factor XIII Tyr204Phe gene variant and the risk of ischemic stroke. J Thromb Haemost 2013; 11: 1426-7.Several genetic variants have been investigated in association with ischemic stroke, with conflicting results or a rather modest effect being seen for each single gene [1]. Genetic variants of factor XIII have been shown to influence the plasma FXIII level and activity, thereby affecting clot structure and thrombotic risk [2]. FXIII acts in the final stages of blood clotting, crosslinking fibrin to plasma proteins, and thereby increasing the mechanical stability of fibrin clots and protecting them from rapid removal during fibrinolysis [3]. The presence of the Phe allele in the Tyr204Phe variant in the A1 subunit of the FXIII gene, FXIII Tyr204Phe (rs3024477), has been investigated as a risk factor for myocardial infarction [4,5] and ischemic stroke [4,6]. A recently published Dutch population-based case-control study [6] examined the risk of ischemic stroke associated with the Tyr204Phe variant in 190 women (20-50 years of age). This genetic variant was identified in 34% of ischemic stroke patients and in 6% of controls, which translated into an odds ratio (OR) of 9.1 with a 95% confidence interval (CI) of 5.5-15 for ischemic stroke in the presence of the Phe allele. This risk was increased to an OR of 20 (95% CI 9.0-46) when associated with oral contraceptive use, and to an OR of 77 (95% CI 7.0-848) for the homozygous form (Phe204Phe) among oral contraceptive users [6]. These surprising results led us to develop the present study, aiming to assess the association of FXIII Tyr204Phe with ischemic stroke in a sample of Brazilian patients.A case-control study was performed, including 220 ischemic stroke patients referred to the hemostasis laboratory for thrombophilic screening from 1991 to 2012, and 220 controls. Patients with major systemic diseases, transient ischemic attack, hemorrhagic stroke, cerebral venous sinus thrombosis or embolic strokes were excluded. The pool of control individuals consisted of healthy individuals brought in by patients and not genetically related to them.The presence of the FXIII Tyr204Tyr, Tyr204Phe and Phe204Phe variants was determined by real time PCR, as previously described [7]. The association of the genetic variants with ischemic stroke was examined with McNemar's chi-square test, and expressed as ORs and CIs, with SPSS (Version 17.0; SPSS, Chicago, IL, USA).The characteristics of patients and controls, the frequencies of the FXIII Tyr204Phe variant and the risk of ischemic stroke are listed in Table 1. The FXIII Tyr204Phe variant was found in the heterozygous form in five (2.0%) patients and in eight (3.6%) controls, with an OR of 0.6 (95% CI 0.2-1.9). The homozygous form (Phe204Phe) was found neither in ischemic stroke patients nor in controls. Subgroup analysis was also performed in an attempt to investigate special populations who could possibly be affected by the presence of this varia...

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“…A frequency of 3.5% for the FXIII Tyr204Phe variant has been previously described in another Brazilian sample [8], almost identical to that found in our control subjects (3.6%).…”

supporting

confidence: 89%

Coagulation factor XIII Tyr204Phe gene variant and the risk of ischemic stroke

Landau¹,

Renni

Zalis

et al. 2013

Journal of Thrombosis and Haemostasis

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“…Five were finally included in the analysis; all of them provided data on Val34Leu, 21,23,28,29,33 two provided data on Tyr204Phe, 21,23 and one on Pro564Leu. 21 Data from 336 patients and 212 control women show that the homozygous mutant type for Val34Leu is relatively uncommon in both groups (18 of 318 versus 7 of 205 or 5.6% versus 3.4%), and it is not associated with recurrent miscarriage (OR 1.24, 95% CI 0.46 -3.34) (Fig.…”

Section: Factor XII Polymorphismsmentioning

confidence: 99%

“…Integration of the results of two studies 21,23 (106 patients, 117 controls) indicated that the heterozygous genotype is found in 7.1% (7 of 99) of …”

Section: Factor XII Polymorphismsmentioning

confidence: 99%

Fibrinolytic Defects and Recurrent Miscarriage

Sotiriadis¹,

Makrigiannakis²,

Stefos³

et al. 2007

Obstetrics &Amp; Gynecology

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“…Elmahgoub et al [20] suggested that the FXIII Val34Leu polymorphism had a positive relationship with RSA and carriers of the heterozygous (Val/Leu) and homozygous (Leu /Leu) factor XIII polymorphism might be at an increased risk of RSA. On the contrary, the other studies [26][27][28][29] showed that factor XIII Val34Leu genetic variation was not associated with recurrent spontaneous abortion. In our analysis, an obvious difference was detected to support the suggestion that the FXIII Val34Leu polymorphism has a significant relationship with RSA in the dominant model and the co-dominant model (Val/Val vs. Val/Leu).…”

Section: Discussionmentioning

confidence: 82%

“…In addition, one report investigated the association between the two genotypes and RSA [26]. Finally, nine studies were included for further analysis [20,21,[26][27][28][29][30][31][32] (Fig. 1).…”

Section: Resultsmentioning

confidence: 99%