Plasma homocysteine, MTHFR C677T, CBS 844ins68bp, and MTHFD1 G1958A polymorphisms in spontaneous cervical artery dissections

Konrad, Carsten; Müller, Georg; Langer, Claus; Kuhlenbäumer, Gregor; Berger, Klaus; Nabavi, Darius G.; Dziewas, Rainer; Stögbauer, Florian; Ringelstein, E. B.; Junker, Ralf

doi:10.1007/s00415-004-0523-z

Cited by 54 publications

(53 citation statements)

References 35 publications

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“…In this study, the I allele for the CBS 844ins68 polymorphism was only present as the I/N genotype in the 556 individuals. This is expected because the I/I genotype was only found in some Caucasians with varied low frequencies ranging between 0.6 and 2.8% [19][20][21][22]. The frequency of the I allele determined here for Singaporean Chinese, 0.4%, was the same as the frequency in Koreans [23], but was much lower than the 2.5% frequency in Southern Chinese [24], although our sample size (273 individuals) was more than twice larger than the Southern Chinese (100 individuals).…”

Section: Discussionmentioning

confidence: 97%

The Allele Frequencies of Three Polymorphisms in Genes Involved in Homocysteine Metabolism in a Group of Unrelated Healthy Singaporeans

Chen

2010

Disease Markers

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Abstract. The cystathionine β-synthase (CBS) 844ins68 polymorphism, methionine synthase (MS) A2756G SNP, and 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T SNP are associated with homocysteine (Hcy) level in humans. Elevated Hcy level is considered a risk factor for atherosclerotic diseases among Asian populations. Therefore, the three polymorphisms may vary the risk for developing such diseases in Singaporeans. In this study, the three polymorphisms were determined in a group of unrelated healthy Singaporeans (273 Chinese, 127 Indians, and 156 Malays). Regarding allele frequencies, Indians had the highest frequencies of the CBS insertion allele (2.0%) and the MS 2756G allele (26.4%), while Chinese had the highest MTHFR 677T allele frequency (27.5%). In addition, the MTHFR 677T allele was found significantly lower in Chinese males than in their female counterparts. As the CBS insertion allele was suggested to be associated with lower Hcy level, whereas the MS 2756G allele and the MTHFR T/T genotype were related to higher Hcy level, the MS A/G or G/G genotype and the MTHFR T/T genotype were considered double genetic risk factors for elevated Hcy level. The frequency of such double genetic risk was 0.7% (4 subjects) in the total population consisting of 3 Chinese (1.1%) and 1 Malays (0.6%). No MTHFR T/T genotype was found in Indians. Such results suggested that Chinese could have higher Hcy levels than Malays while the situation for Indians was complicated. Since human Hcy levels are also affected by environmental factors, further studies are required to better evaluate the association between these three polymorphisms and Hcy levels and/or disease susceptibilities in Singaporeans.

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Section: Discussionmentioning

confidence: 97%

The Allele Frequencies of Three Polymorphisms in Genes Involved in Homocysteine Metabolism in a Group of Unrelated Healthy Singaporeans

Chen

2010

Disease Markers

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“…8,9,66 Three other studies did not find any significant association between MTHFR 677TT and CAD. 7,13,60 We performed a meta-analysis of 5 studies 7,9,13,60,66 (in 440 cases and 1220 control subjects); the sixth study 8 was not included in the meta-analysis because of overlapping data with a subsequent analysis from the same group. 66 The meta-analysis showed an overall significant association of the MTHFR 677TT genotype with CAD with an OR of 1.67 (95% CI,1.21 to 2.31; Figure 2).…”

Section: Genetic Association Studiesmentioning

confidence: 99%

“…It has been associated with major head and neck trauma 4 as well as with minor trauma secondary to a wide range of insults. 5 Other risk factors proposed include recent infection, 6 hyperhomocysteinemia, 7-9 migraine, 10 low levels of ␣1-antitrypsin, 11 and hypertension [12][13][14] and fibromuscular dysplasia, 15 but most evidence is limited. 16 Several arguments suggest genetic factors may play an important role in the pathophysiology of CAD, in rare cases as part of a single gene disorder and more commonly as part of a multifactorial predisposition (Figure 1).…”

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confidence: 99%

The Genetics of Cervical Artery Dissection

Debette

Markus

2009

Stroke

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Background and Purpose-The pathophysiology of cervical artery dissections (CAD), a major cause of ischemic stroke in young adults, is poorly understood. Several arguments suggest a genetic predisposition. Methods-We systematically reviewed all published data on genetic risk factors for CAD and performed a meta-analysis of association studies with the MTHFR C677T polymorphism. Results-Rarely, CAD is associated with a known monogenic connective tissue disease, mainly vascular Ehlers-Danlos syndrome. However, in the large majority of CAD cases, there is no evidence for a known monogenic disease. Several arguments, including the association of CAD with dermal connective tissue abnormalities that are inherited, suggest that genetic factors also play a role in "sporadic" CAD as part of a multifactorial predisposition. We identified 15 genetic association studies: 10 were negative and 5 reported associations of 3 genetic variants in 3 different candidate genes. Two studies reported associations with polymorphisms in ICAM-1 and COL3A1, but neither has been replicated. Three studies reported an association with the MTHFR 677TT genotype, but 3 other studies did not replicate this. A meta-analysis of these data identified an overall significant association of the MTHFR 677TT genotype with CAD (OR, 1.67; 95% CI, 1.21 to 2.31). We also identified 9 studies screening candidate genes for mutations and 4 linkage studies, yielding mostly negative results. Conclusions-Although several interesting hypotheses were generated, the majority of genetic studies in CAD have been negative until now, but they were markedly underpowered. Progress in unraveling the genetics of CAD will require the collection of DNA samples from large multicenter series. (Stroke. 2009;40:e459-e466.)

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“…Diğer bir çalışmada ise Kloss ve ark'ı benzer sonuçlara varmışlardır (11,15). Fakat MTHFR gen mutasyonunun KAD gelişiminde risk faktörü olduğunu desteklemeyen çalışmalar da vardır (16,17).…”

Section: Discussionunclassified

A case of carotid artery dissection devoleped after swimming: The role of heterezygote C677T MTHFR gen mutation

Ersoy¹,

Koç²,

Düzgün³

et al. 2013

Türk Beyin Damar Hast Derg

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Genç serebral inme sebepleri arasında karotis arter diseksiyonu önemli bir yer tutmaktadır. Karotis arter diseksiyonu çoğu zaman spontan olarak gelişmesine rağmen hasta tarafından önemsenmeyen mikro-travmaya bağlı da ortaya çıkabilir. Bu yazıda eforlu yüzme sonrasında gelişen, sadece boyun ağrısı ve boyunda pulsatil şişlikle kliniğimize başvuran, ancak yapılan ileri tetkiklerinde kronik venöz sinüs trombozu ve serebral enfarktüsün de olduğu ortaya çıkan ekstrakranial internal karotis arter diseksiyonlu bir olgu sunulmaktadır. MTHFR gen mutasyonu da saptanan olgu multipl vasküler olayların bir arada nadir görülmesi nedeniyle sunuldu. Anahtar Sözcükler: Karotis arter diseksiyonu, venöz sinüs trombozu, serebral enfarkt, MTHFR gen mutasyonu, yüzme. A CASE OF CAROTID ARTERY DISSECTION DEVOLEPED AFTER SWIMMING: THE ROLE OF HETEREZYGOTE C677T MTHFR GEN MUTATION ABSTRACTCarotid artery dissection is one of the most important causes of cerebral stroke in young age. Although most cases of carotid artery dissection appear spontaneously, sometimes it may result from a microtrauma which the patient doesn't take it seriously. This article reports a case of extracranial internal carotid artery dissection starting from intense swimming and manifesting itself only as neck swelling and neck pain. Other analyses showed that the patient also suffered from a cronic venous sinus thrombosis and stroke. Moreover, genetic testing revealed a MTHFR gene mutation. This case is presented because of the multiple vascular events are seen rarely in the same patient. Key Words: Carotid artery dissection, venous sinus thrombosis, cerebral infarction, MTHFR gene mutation, swimming. GİRİŞKarotis arter diseksiyonu (KAD) genç ve orta yaştaki hastalarda inme etiyolojisinde büyük önem taşımaktadır. İnsidansı 100 000'de 2.6-2.9'dur (1). Tüm yaşlarda görülmesine rağmen en sık beşinci dekatta rastlanır. Erkeklerde hafif predominansi oluşturmakla birlikte (% 56), kadınlarda 5 yaş daha erken ortaya çıkmaktadır (2, 3).En sık görülen diseksiyon tipi eksternal karotis arter diseksiyonudur. Klinik tablo çok hafif belirtilerden (ipsilateral baş ve boyun ağrısı, Horner sendromu) geçici iskemik ataklar (İA) ve serebral iskemiye bağlı ağır bulgulara kadar değişebilir. TİA ve serebral iskemi karotis arter diseksiyonu gelişen olguların % 49-84'ünde görülmektedir (2). Başlıca iskemi gelişme mekanizması diseksiyon yerinde oluşan trombüsten serebral arterlere olan embolidir. Hemodinamik değişiklikler patolojik mekanizmada daha az oranda rol oynamaktadır (4).KAD tanısında renkli doppler ultrasonografi, magnetik rezonans anjiografi (MRA), bilgisayarlı tomografi anjiografi (BTA) ve dijital substraksiyon _____________________________________________________________________________________________________________________________

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Plasma homocysteine, MTHFR C677T, CBS 844ins68bp, and MTHFD1 G1958A polymorphisms in spontaneous cervical artery dissections

Cited by 54 publications

References 35 publications

The Allele Frequencies of Three Polymorphisms in Genes Involved in Homocysteine Metabolism in a Group of Unrelated Healthy Singaporeans

The Allele Frequencies of Three Polymorphisms in Genes Involved in Homocysteine Metabolism in a Group of Unrelated Healthy Singaporeans

The Genetics of Cervical Artery Dissection

A case of carotid artery dissection devoleped after swimming: The role of heterezygote C677T MTHFR gen mutation

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