Determination of Prothrombotic Gene Polymorphisms and Stroke Risk Factors in Young Ischemic Stroke Patients

Year 2014, , 119 - 124, 01.09.2014

Recep Demir Ömer Atış Lütfi Özel Hasan Doğan Gökhan Özdemir Hızır Ulvi

https://doi.org/10.5505/sakaryamj.2014.99810

Abstract

Objective: To examine whether MTHFR C677T, Prothrombin G20210A and Factor V Leiden (G1691A) gene polymorphisms create a risk factor or not in young ischemic stroke patients.Materials and method: A total of 243 people under the age of 50 were included in the study 142 of whom had ischemic stroke and 101 of whom comprised the healthy control group (healthy polyclinic patients). Peripheric venous blood samples were taken from the patient and control group into EDTA tubes and genomic deoxyribonucleic acids (DNA) were obtained. Factor V Leiden, FII G20210A and MTHFR C677T polymorphisms genotyping was carried out via standard Real Time - PCR protocol. Brain imaging process was carried out on the 1st and 3rd days of the hospitalization of the patients. Statistically, chi-square, anova test and logistic regression analysis were used. Results: The study consisted of 142 (58,4%) patients with arterial ischemic stroke and 101 (41,6%) healthy controls. The MTHFR C677T mutation in arterial ischemic stroke patients was greater in comparison with the control group (p

Keywords

MTHFR C677T, Faktör V Leiden, FII G20210A, risk factors, young stroke

Genç İskemik Stroklu Hastalarda Protrombotik Gen Polimorfizmleri ve Strok Risk Faktörlerinin Belirlenmesi

Abstract

Genç İskemik Stroklu Hastalarda Protrombotik Gen Polimorfizmleri ve Strok Risk Faktörlerinin BelirlenmesiAmaç: Genç iskemik inmeli hastalarda MTHFR C677T, Protrombin G20210A ve Faktör V Leiden (G1691A) gen polimorfizmlerinin bir risk faktörü olup olmadığının araştırılmasıdır.Gereç ve yöntem: Çalışmaya, 50 yaş altında iskemik strok geçirmiş 142 hasta ve 101 kontrol grubu (sağlıklı poliklinik hastası) toplam 243 kişi dahil edildi. Hasta ve kontrol grubundan EDTA'lı tüplere periferik venöz kan örnekleri alındı ve genomik deoksiribonükleik asitler (DNA) elde edildi. Faktör V Leiden, FII G20210A ve MTHFR C677T polimorfizmleri standart Real Time - PCR protokolü ile genotiplemesi yapıldı. Hastaların yatışının 1. ve 3. günleri beyin görüntülemesi yapıldı. İstatistiksel olarak ki-kare, anova testi ve logistik regresyon analizi kullanıldı.Bulgular: Çalışma, 142'si (58,4%) arteryal iskemik strok hastalarından ve 101'i (41,6%) sağlıklı kontrol grubundan oluşmaktaydı. Arteryel iskemik strok hastalarda kontrol grubuna göre daha fazla MTHFR C677T mutasyonu vardı (p

Keywords

MTHFR C677T, Faktör V Leiden, FII G20210A, risk faktörleri, genç strok

References

• Special report from the World Healthy Organization. Report from the WHO Task Force on stroke and other cerebrovascular disorder. Stroke 1989; 20: 1407-1431.
• Rutten-Jacops LC, Arntz RM, Maaijwee NA, et al. Long-term mortality after stroke among adults aged 18 to 50 years. JAMA 2013; 309: 1136-44.
• Rutten-Jacobs LC, Maaijwee NA, Arntz RM, et al. Risk factors and prognosis of young stroke. The future study: A prospective cohort study. Study rationale and protocol. BMC Neurol 2011; 11: 109.
• Lopaciuk S, Bykowska K, Kwiecinski H, et al. Faktör V Leiden, prothrombin gene G20210A variant, and Methylenetetrahydrofolat Reductase C677T genotype in young adults with ischemic stroke. Clin Appl Thromb Hemost. 2001; 7: 346-350.
• Godoi LC, Fernandes AP, Vieira LM, et al. Hypercoagulability markers in young asymptomatic heterozygous carriers of factor V Leiden(G1691A) or prothrombin(G20210A) variant. Clinica Chimica Acta 2006; 365: 304-309.
• Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in Methylenetetrahydrofolat Reductase. Nat Genet 1995; 10: 111-3.
• Li Z, Sun Li, Zhang H, et al. Elevated Plasma Homocysteine Was Associated With Hemorrhagic and Ischemic Stroke, but Methylenetetrahydrofolat Reductase Gene C677T Polymorphism Was a Risk Factor Thrombotic Stroke. Stroke 2003; 34: 2085-90.
• Longstreth WT, Rosendaal FR, Siscovick DS. Risk of stroke in young women and two prothrombotic mutatıons: factor V leiden and prothrombin gene variant(G20210A). Stroke 1998; 29: 577-80.
• Voetsch B, Damasceno BP, Camargo ESC. Inherited thrombophilia as a risk factor for the development of ischemic stroke in young adults. Thromb Haemost 2000; 83: 229-33.
• Paci M, Nannetti L, D'Ippolito P, Lombardi B. Outcomes from ischemic stroke subtypes classified by the Oxfordshire Community Stroke Project: A systematic review. Eur J Phys Rehabil Med 2011; 47: 19-23.
• Xin XY, Song YY, Ma JF, et al. Gene polymorphisms and risk of adult early- onset ischemic stroke: a meta-analysis. Tromb Res 2009; 124: 619-24.
• Wolfgang L, Aull S, Serles W. C677T MTHFR mutation and factor V leiden mutatıon in patients with TIA/Minor stroke: A case-control study. Thrombosis research 1999: 93; 61-9.
• Han IB, Kim OJ, Ahn JY, et al. Association of methylenetetrahydrofolate reduc- tase (MTHFR 677C>T and 1298A>C) polymorphisms and haplotypes with silent brain infarction and homocysteine levels in a Korean population. Yonsei Med J 2010; 51: 253-60.
• Ucar F, Sonmez M, Ovali E, et al. MTHFR C677T polymorphism and its relation to ischemic stroke in the Black Sea Turkish population. Am J Hematol 2004; 76 :40–3.
• Sazcı A, Ergul E, Kaya G, Kara I. Genotype and allele frequencies of the poly- morphic Methylenetetrahydrofolate Reductase gene in Turkey. Cell Biochem Funct 2003; 23 :51–4.
• Simioni P, de Ronde H, Prandoni P, Saladini M, Bertina RM, Girolami A. Ischemic stroke in young patients with activated protein C resistance. A report of three ca- ses belonging to three different kindreds. Stroke 1995; 26: 885-90.
• Chaturvedi S, Joshi N, Dzieczkowski J. Activated protein C resistance in young African American patients with ischemic stroke. Journal of Neurological Sciences 1999; 163: 137-139.
• Ridker PM, Hennekens CH, Lindpaintner K, et al. Mutation in the gene coding for coagulation factor V and the risk of myocar- dial infarction, stroke and venous trombosis in apparently healty men. New Engl J Med 1995; 332: 912-7.
• Landi G, Cella E, Martinelli I, et al. Arg506GIn factor V mutation and cerebral ischemia in the young. Stroke 1996; 27: 1697-8.
• Madonna P, de Stefano V, Cappola A. Hyperhomocysteinemia and other inherited prthrombotic conditions in young adults with a history of ischemic stroke. Stroke 2002; 33; 51-6.
• Jerard-Dunne P, Cloud G, Hassan A, Markus HS. Evaluating the genetic component of ischemic stroke subtypes. A family history study. Stroke 2003; 34: 1364-1369.
• UK Prospective Diabetes Study Group: tight blood pressure control and risk of macrovascular and microvascular complications in type 2 diabetes: UKPDS 38. BMJ 1998; 317: 703-713.
• Shinton R, Beavers G. Meta-analysis of relation between cigarette smoking and stroke. BMJ 1983; 298: 789-794.
• Mazzaglia G, Britton AR, Altmann DR, Cheret L. Exploring the relationship between alcohol consumption and non-fatal and fatal stroke: a systematic review. Addition 2001; 96: 1743-56.
• Yamashito K, Ouchi K, Shiari et al. Distribution of Chlamydia pneumoniae infection in the atherosclerotic carotid artery. Stroke 1988; 29: 773-778.