Heterogeneous ethnic distribution of the factor v leiden mutation

Franco, Rendrik F.; Élion, Jacques; Santos, Sidney; Araújo, Astolfo Gomes de Mello; Tavella, Marli Haydee; Zago, Marco Antônio

doi:10.1590/s1415-47571999000200001

Cited by 13 publications

(11 citation statements)

References 17 publications

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“…In our study the observed FVL G1691A frequency (1.6%) did not differ significantly from the frequencies observed in most of Caucasian populations (Adamczuk et al, 2000) or from that reported by Franco et al (1999) in Brazilians of European origin (1.3%) and Brazilian Amerindians (0.3%), but was significantly lower than the 6.9% found in Greeks (Angelopoulou et al, 2000).…”

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confidence: 64%

Prevalence of hereditary risk factors for thrombophilia in Belém, Brazilian Amazon

et al. 2006

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Different risk factors for venous thromboembolism (VTE) have been identified, including hereditary abnormalities in the mechanisms of coagulation and fibrinolysis. We investigated five genetic polymorphisms (FVL G1691A, FII G20210A, MTHFR C677T, TAFI A152G and TAFI T1053C) associated with VTE in individuals from the city of Belém in the Brazilian Amazon who had no history of VTE. No significant difference was found between the observed and expected genotype frequencies for the loci analyzed. We found high frequencies of MTHFR C677T (33.9%) and TAFI T1053C (74%) and low frequencies of FVL (1.6%), FII G20210A (0.8%) and TAFI A152G (0.8%). The FVL G1691A, FII G20210A and MTHFR C677T frequencies were similar to those for European populations and populations of European descent living in the city of Ribeirão Preto in the Brazilian state of São Paulo. The frequency of the two TAFI mutations in the Belém individuals was not significantly different from that described for individuals from Ribeirão Preto. We suggest that the risks for VTE in the population of Belém are of the same magnitude as that observed in European populations and in populations with an expressive European contribution.

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confidence: 64%

Prevalence of hereditary risk factors for thrombophilia in Belém, Brazilian Amazon

et al. 2006

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“…The fact that the mutation is rarely seen in other regions of the world but it is highly frequent in Europe makes the matter worth examining. 3,4,[16][17][18][19][20][21][22] The alteration among different ethnic groups suggests that the FVL came about after the separation of Mongoloids and Caucasians. 18 This idea gives rise to the conclusion that a point mutation occurred recently in the founder population of Europe and was spread throughout the continent by migration.…”

Section: Discussionmentioning

confidence: 99%

Factor V Leiden in an Urartian, Dating Back to 1000 BC

Alakoç

Aka²,

Eğin

et al. 2009

Clin Appl Thromb Hemost

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Factor V Leiden (FVL) is the most common monogenic disorder that causes activated protein C (APC) resistance, creating hyper-coagulation. The mutation shows an uneven geographic distribution, significantly high in European populations. The mutation is believed to have originated approximately 20 000 years ago probably from a geographic region close to Anatolia. This fact makes it noteworthy to search for the mutation in ancient populations that once lived in this area. One of these civilizations, Urartu was centered around Van Lake in Eastern Turkey. The archeological remains from the excavations of the region are dated back to 1000 BC. Teeth, taken from the excavations of Van Yoncatepe fortress, were taken into DNA analysis considering all the precautions for ancient DNA analysis. Multiplex STR (Short Tandem Repeats) analysis were performed both to determine the gender of the samples and to conclude that the samples are preserved from modern DNA contamination. After getting an 80% amplification success for amelogenin, a melting curve analysis using lightcycler was performed to determine the FVL genotype of each sample. Of the 60 samples, 1 gave a positive amplification result for FV gene and was found to be heterozygous. To date, the age of this mutation was estimated based on statistical calculations using haplotype frequencies; here for the first time, we report FVL in an ancient population of 3000 years.

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“…Factor V Leiden mutation is the most frequent inherited risk factor for VTE, with a prevalence of 5% in the general Caucasian population and a much higher frequency in the Greek Cypriot and southern Sweden population, up to 13.3% (7,8). In the African and Asian populations this mutation is very rare (9). In the general Caucasian population the prevalence of FV Leiden mutation is 20-50% among patients with DVT.…”

Section: Introductionmentioning

confidence: 99%

FV Leiden Mutation and Deep Venous Thrombosis in Vojvodina: A Case-Control Study

Salatic¹,

Kiralj²,

Mitić³

et al. 2011

Journal of Medical Biochemistry

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Kratak sadr`aj: U periodu od septembra 2007 do fe bruara 2010. ispitana je pojava duboke venske tromboze u kohorti od 79 pacijenata. Prospektivna studija je obuhvatila kontrolnu grupu koja se po odnosu polova i starosti po kla pa sa grupom pacijenata. Analizirano je prisustvo mutacije faktor V G1691A u grupi obolelih i kontrolnoj grupi. Osamnaest obolelih (22,79%; 95% interval poverenja (CI) 13,53% do 32,03%) i ~etiri kontrole (5,63%; 95% CI 0,27-10,99%) bili su nosioci FV Leiden mutacije u heterozigotnom stanju (p = 0,025). Odnos verovatno}a (OR) za nastanak DVT iznosio je 4,94 (95% CI 1,58-15,42) a relativni rizik (RR) 4,04 (95% CI 1,44-11,38) u pore|enju sa nosiocima neizmenjenog gena.^etiri obolela bili su nosioci FV Leiden mutacije u heterozigotnom stanju a nijedna zdrava osoba i stoga su OR i RR ra~unati na osnovu op{te u~estalosti homozigota u beloj populaciji. OR za DVT bio je 47,28 (95% CI 0,04-52167,3) a RR 45,57 (95% CI 0,77; p=0,025) Na{a studija potvr|uje da nosioci FV Leiden mutacije u Vojvodini, kao u studijama ra|enim na drugim populacijama, imaju pove}an rizik za nastanak DVT. Pro cenjen rizik od nastanka DVT za nosioce faktor V Leiden mutacije u heterozigotnom stanju je ~etiri do pet puta ve}i a za homozigotne nosioce ~ak oko 45 do 48 puta ve}i u odnosu na nosioce neizmenjenog gena za FV. Ovi rezultati potvr|uju da kod pacijenata sa DVT, kao i njihovih ro|aka, treba ispitati prisustvo FV Leiden mutacije.Klju~ne re~i: faktor V Leiden, duboka venska tromboza IntroductionInherited thrombophilia represents a variety of gene tically determined abnormalities of haemostatic mecha nisms that are generally associated with incre ased predis po sition to blood coagulation and throm bosis deve lop ment. In a patient with the genetic ano maly linked to venous thrombosis, another inhe rited or acquired risk factor can produce this clinical disorder (1, 2). A case-control study inclu ded 71 healthy controls matched with cases for sex and age. The prevalence of factor V G1691A mutation genotype was analyzed. Eighteen cases (22.79%; 95% confidence interval (CI) 13.53% to 32.03%) and four controls (5.63%; 95% CI 0.27% to 10.99%) were heterozygous carriers of FV Leiden (p= 0.025). The odds ratio for DVT was 4.94 (95% CI 1.58 to 15.42) and the relative risk 4.04 (95% CI 1.44-11.38) compared with FV 1691G carriers. Four cases were homozygous carriers of FV Leiden, giving a prevalence of 5.06% (95% CI 0.23 to 9.89%) and no controls, therefore OR and RR calculation was based on the prevalence of homozygotes in the general Caucasian population. The OR for DVT was 47.28 (95% CI 0.04 -52167.3) and the RR 45.57 (95% CI 0.04 to 49540.77; p=0.025) compared with FV 1691 G carriers. Our study confirms that factor V Leiden carriers in Vojvodina, as in similar studies previously carried out in other populations, have an increased risk of developing DVT. The evaluated risk of DVT in heterozygous carriers of the mutation is four-to five-fold higher, whereas for homozygous carriers it is 45-to 48-fold higher than in non-carriers....

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Heterogeneous ethnic distribution of the factor v leiden mutation

Cited by 13 publications

References 17 publications

Prevalence of hereditary risk factors for thrombophilia in Belém, Brazilian Amazon

Prevalence of hereditary risk factors for thrombophilia in Belém, Brazilian Amazon

Factor V Leiden in an Urartian, Dating Back to 1000 BC

FV Leiden Mutation and Deep Venous Thrombosis in Vojvodina: A Case-Control Study

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