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The studies about diseases concerning with contemplated MTHFR 677 C>T polymorphism

Yıl 2014, Cilt: 41 Sayı: 1, 244 - 256, 01.03.2014

Müzeyyen İzmirli Özgür Aldemir Bülent Gögebakan Davut Alptekin

https://doi.org/10.5798/diclemedj.0921.2014.01.0411
Cited By: 1

Öz

5,10-Methlenetetrahydrofolate reductase (MTHFR) is one of the most important enzymes for folic acid metabolism. This protein\'s gene is mapped on chromosome 1, which is located at the end of the short arm (1p36.3). MTHFR enzyme plays a key role in cell metabolism including folic acid and nucleotide synthesis (DNA, RNA). Polymorphism is also a factor in biodiversity, and is different according to ethnic heritage and racial. The 677 C>T is also MTHFR polymorphisms that decrease MTHFR enzyme activity. The aim of this study is to compile studies are associated with MTHFR C677T polymorphism. PUBMED, Turk Biochemistry and Jornal of Clinical & Experimental Investigations were searched to develop an investigatory pursuit strategy. MTHFR, Turkish population, 677 C>T and polymorphisms were key words including “MTHFR”, “Türk popülasyonu: Turkish population”, “677 C>T” “polimorfizm: polymorphism” used to focus the search. The literature review included all published relevant Turkish population and MTHFR polymorphisms for that all of study. The data of selected polymorphism for Turkish population was listed in tables for easy access and retrieval.

Anahtar Kelimeler

MTHFR Turkish population 677 C>T polymorphism

Kaynakça

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The studies about diseases concerning with contemplated MTHFR 677 C>T polymorphism

Yıl 2014, Cilt: 41 Sayı: 1, 244 - 256, 01.03.2014

Müzeyyen İzmirli Özgür Aldemir Bülent Gögebakan Davut Alptekin

https://doi.org/10.5798/diclemedj.0921.2014.01.0411
Cited By: 1

Öz

5,10-Metilentetrahidrofolat redüktaz (MTHFR) folik asit metabolizması için en önemli enzimlerden biridir. Bu proteinin geni 1 numaralı kromozomun kısa kolunda (1p36.3) haritalanmıştır. MTHFR enzimi, folik asit, nükleotid sentezi (DNA, RNA) gibi pek çok reaksiyonu içeren hücre metabolizmasında, kilit rol oynar. Polimorfizmler etnik kökene ve ırklara göre farklılık gösteren ve biyoçeşitlilikte rol oynayan bir faktördür. MTHFR 677 C>T polimorfizmi enzim aktivitesini azaltan bir polimorfizmdir. Çalışmanın amacı, Türkiye\'de MTHFR C677T polimorfizmi ile ilgili olan çalışmaları derlemektir. Bu nedenle, Türkiye\'de yapılmış MTHFR 677 C>T polimorfizmi ile ilgili PUBMED, Türk Biyokimya ve Klinik & Deneysel Araştırmalar dergisinde yayınlanmış bütün çalışmalar derlenmiştir. Araştırma yapılırken “MTHFR”, “Türk popülasyonu: Turkish population”, “677 C>T” “polimorfizm: polymorphism” anahtar kelimeleri kullanılmıştır. Bu çalışmalar, belli başlı hastalık gruplarına göre sınıflandırılmış ve tablolar halinde okuyucunun değerlendirmesine sunulmuştur.

Anahtar Kelimeler

MTHFR Türk populasyonu 677 C>T polimorfizmi

Kaynakça

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  • Nazli Y, Colak N, Aksoy ON, Cakir O. Thyroid vein thrombosis in a young woman with methylenetetrahydrofo- late reductase gene mutation receiving cyproterone acetate/ ethinylestradiol treatment for polycystic ovary syndrome: a case report. Blood Coagul Fibrinolysis 2011;22:331-333.
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  • Yenicesu GI, Cetin M, Ozdemir O, et al. A prospective case-control study analyzes 12 thrombophilic gene muta- tions in Turkish couples with recurrent pregnancy loss. Am J Reprod Immunol 2010;63:126-136.
  • Yokuş O, Balçık ÖŞ, Albayrak M, et al. Thrombophilic risk factors in women with recurrent abortion. J Clin Exp Invest 2010;1:168-172.
  • Inanir A, Yigit S, Tural S, et al. MTHFR gene C677T mu- tation and ACE gene I/D polymorphism in Turkish patients with osteoarthritis. Dis Markers 2013;34:17-22.
  • Inanir A, Yigit S, Tekcan A, et al. IL-4 and MTHFR gene polymorphism in rheumatoid artritis and their effects. Im- munol Lett 2013;152:104-108.
  • Taşbaş O, Borman P, Gürhan Karabulut H, et al. The Frequency of A1298C and C677T Polymorphisms of the Methylentetrahydrofolate Gene in Turkish Patients with Rheumatoid Arthritis: Relationship with Methotrexate Tox- icity. Open Rheumatol J 2011;5:30-35.
  • Ozkul Y, Evereklioglu C, Borlu M, et al. 5,10-methylene- tetrahydrofolate reductase C677T gene polymorphism in Behcet’s patients with or without ocular involvement. Br J Ophthalmol 2005;89:1634-1637.
  • Toydemir PB, Elhan AH, Tükün A, et al. Effects of factor V gene G1691A, methylenetetrahydrofolate reductase gene C677T, and prothombin gene G20210A mutations on deep venous thrombogenesis in Behçet’s disease. J Rheumatol 2000;27:2849-2854.
  • Törüner M, Erkan O, Soykan I, et al. Factor V Leiden, pro- thrombin G20210A and MTHFR gene mutations in inflam- matory bowel disease. Turk J Gastroenterol 2004;15:250- 252.
  • Eser B, Cosar M, Eser O, et al. 677C>T and 1298A>C polymorphisms of methylenetetrahydropholate reductase gene and biochemical parameters in Turkish population with spina bifida occulta. Turk Neurosurg 2010;20:9-15.
  • Aşlar D, Ozdiler E, Altuğ AT, Taştan H. Determination of methylenetetrahydrofolate reductase (MTHFR) gene poly- morphism in Turkish patients with nonsyndromic cleft lip and palate. Int J Pediatr Otorhinolaryngol 2013;77:1143- 1146.
  • Boduroğlu K, Alikaşifoğlu M, Anar B, Tunçbilek E. As- sociation of the 677CT mutation on the methylenetetra- hydrofolate reductase gene in Turkish patients with neural tube defects. J Child Neurol 1999;14:159-161.
  • Ceyhan ST, Beyan C, Bahce M, et al. Thrombophilia-as- sociated gene mutations in women with pregnancies com- plicated by fetal neural tube defects. Int J Gynaecol Obstet 2008;101:188-189.
  • Boduroğlu K, Alanay Y, Alikaşifoğlu M, et al. Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T poly- morphism as a risk factor for neural tube defects in the Turkish population. Turk J Pediatr 2005;47:327-333.
  • Kosar A, Kasapoglu B, Kalyoncu S, et al. Treatment of adverse perinatal outcome in inherited thrombophilias: a clinical study. Blood Coagul Fibrinolysis 2011;22:14-18.
  • Boduroğlu K, Alikaşifoğlu M, Anar N, Tunçbilek E. As- sociaition of the 677 CT mutation on the methylenetetra- hydrofolate reductase gene in Turkish patients with neural tube defects. J Child Neurol 1999;14:159-161.
  • Sahiner UM, Alanay Y, Alehan D, et al. Investigation methylenetetrahydrofolate reductase polymorphisms and homocysteine levels in heart defects. Pediatr Int 2013;DOI:10.1111/ped.12222.
  • Ozbek N, Ataç FB, Yildirim SV, et al. Analysis of pro- thrombotic mutations and polymorphism in children who developed thrombosis in the perioperative period of con- genital cardiac surgery. Cardiol Young 2005;15:19-25.
  • Kalkan G, Karakus N, Yigit S. Association of MTH- FR gene C677T mutation with recurrent aphthous sto- matitis and number of oral ulcers. Clin Oral Investig 2013;DOI:10.1007/s00784-013-0997-0.
  • Bekci TT, Kocak N, Kesli R. Distribution of common methylenetetrahydrofolate reductase gene mutations in patients with obstructive sleep apnoea. J Int Med Res 2009;37:1718-1724.
  • Vurucu S, Demirkaya E, Kul M, et al. Evaluation of the relationship between C677T variants of methylenetetra- hydrofolate reductase gene and hyperhomocysteinemia in children receiving antiepileptic drug therapy. Prog Neuro- psychopharmacol Biol Psychiatry 2008;32:844-848.
  • Turaçli ME, Tekeli O, Ozdemir F, Akar N. Methylenetetra- hydrofolate reductase 677 C-T and homocysteine levels in Turkish patients with pseudoexfoliation. Clin Experiment Ophthalmol 2005;33:505-508.
  • Sırmalı R, Koca Y, Erden G, et al. Evaluation of the Asso- ciation of Mthfr C677T and A1298C Gene Polymorphisms with Diabetic Retinopathy in Type 2 Diabetes Patients. Turk J Biochem 2008;33:71-76.
  • Dinleyici EC, Kirel B, Alatas O, et al. Plasma total homo- cysteine levels in children with type 1 diabetes: relationship with vitamin status, methylenetetrahydrofolate reductase genotype, disease parameters and coronary risk factors. J Trop Pediatr 2006;52:260-266.
  • Yildiz B, Cetin N, Kural N, et al. Co-existence of renovas- cular hypertension, polyarteritis nodosa, antiphospholipid syndrome and methylenetetrahydrofolate reductase muta- tion. Pediatr Int 2013;55:e107-110.
  • Yildiz Z, Ulu A, Incesulu A, et al. The importance of throm- botic risc factors in the development of idiopathic sudden hearing loss. Clin Appl Thromb Hemost 2008;14:356-359.
  • Vurucu S, Demirkaya E, Kul M, et al. Evaluation of the relationship between C677T variants of methylenetetra- hydrofolate reductase gene and hyperhomocysteinemia in children receiving antiepileptic drug therapy. Prog Neuro- psychopharmacol Biol Psychiatry 2008;32:844-848.
  • Yigit S, Karakus N, Inanir A. Association of MTHFR gene C677T mutation with diabetic peripheral neuropathy and diabetic retinopathy. Mol Vis 2013;19:1626-1630.
  • Kalkan G, Yigit S, Karakuş N, et al. Methylenetetrahydro- folate reductase C677T mutation in patients with alopecia areata in Turkish population. Gene 2013;530:109-112.
  • Uğuz N, Erden G, Güngör O, et al. Determination of the frequency of MTHFR C677T and MTHFR A1298C poly- morphisms in persons with polymorphic MTHFR gene. J Clin Exp Invest 2012;3:472-476.
  • Uçar F, Celik S, Yücel B, et al. MTHFR C677T poly- morphism and its relationship to myocardial infarction in the Eastern Black Sea region of Turkey. Arch Med Res 2011;42:709-712.
  • Ağaoğlu N, Türkyilmaz S, Ovali E, et al. Prevalence of prothrombotic abnormalities in patients with acute mesen- teric ischemia. World J Surg 2005;29:1135-1138.
  • Uçar F, Sönmez M, Ovali E, et al. MTHFR C677T poly- morphism and its relation to ischemic stroke in the Black Sea Turkish population. Am J Hematol 2004;76:40-43.
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  • Varoglu AO. Na VPA-induced acute ischemic stroke in an epileptic patient with methylenetetrahydrofolatereductase gene polymorphism. Epilepsy Res 2009;86:232-236.
  • 1 Uzar E, Ekici F, Acar A, et al. Cerebral venous sinus thrombosis: an analyses of 47 patients. Eur Rev Med Phar- macol Sci 2012;16:1499-1505.
  • 1 Gokalp D, Tuzcu A, Bahceci M, et al. Analysis of throm- bophilic genetic mutations in patients with Sheehan’s syn- drome: is thrombophilia responsible for the pathogenesis of Sheehan’s syndrome? Pituitary 2011;14:168-173.
  • 1 Yalinkaya A, Erdemoglu M, Akdeniz N, Kale A, Kale E. The relationship between thrombophilic mutations and preeclampsia: a prospective case-control study. Ann Saudi Med 2006;26:105-109.
  • 1 Yilmaz S, Bayan K, Tüzün Y, et al. A comprehensive anal- ysis of 12 thrombophilic mutations and related parameters in patients with inflammatory bowel disease: data from Tur- key. J Thromb Thrombolysis 2006;22:205-212.
  • 1 Bayan K, Tüzün Y, Yilmaz S, et al. Analysis of inherited thrombophilic mutations and natural anticoagulant defi- ciency in patients with idiopathic portal hypertension. J Thromb Thrombolysis 2009;28:57-62.
  • 1 Büyükçelik M, Karakök M, Başpinar O, Balat A. Arte- rial thrombosis associated with factor V Leiden and methy- lenetetrahydrofolate reductase C677T mutation in child- hood membranous glomerulonephritis. Pediatr Nehrol 2008;23:491-494.
  • 1 Gokcen C, Kocak N, Pekgor A. Methylenetetrahydrofo- late reductase gene polymorphi polymorphisms in children with attention deficit hyperactivity disorder. Int J Med Sci 2011;8:523-528.
  • 1 Izmirli M. A literature review of MTHFR (C677T and A1298C polymorphisms) and cancer risk. Mol Biol Rep 2013;40:625-637.
  • 1 Dikmen M. Molecular biology of methylenetetrahydrofo- late reductase enzyme and association with diseases. Ko- catepe Tıp Dergisi 2004;5:9-16.
Toplam 159 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Derlemeler
Yazarlar

Müzeyyen İzmirli Bu kişi benim

Özgür Aldemir Bu kişi benim

Bülent Gögebakan Bu kişi benim

Davut Alptekin Bu kişi benim

Yayımlanma Tarihi 1 Mart 2014
Gönderilme Tarihi 2 Mart 2015
Yayımlandığı Sayı Yıl 2014 Cilt: 41 Sayı: 1

Kaynak Göster

APA İzmirli, M., Aldemir, Ö., Gögebakan, B., Alptekin, D. (2014). The studies about diseases concerning with contemplated MTHFR 677 C>T polymorphism. Dicle Tıp Dergisi, 41(1), 244-256. https://doi.org/10.5798/diclemedj.0921.2014.01.0411
AMA İzmirli M, Aldemir Ö, Gögebakan B, Alptekin D. The studies about diseases concerning with contemplated MTHFR 677 C>T polymorphism. diclemedj. Mart 2014;41(1):244-256. doi:10.5798/diclemedj.0921.2014.01.0411
Chicago İzmirli, Müzeyyen, Özgür Aldemir, Bülent Gögebakan, ve Davut Alptekin. “The Studies about Diseases Concerning With Contemplated MTHFR 677 C>T Polymorphism”. Dicle Tıp Dergisi 41, sy. 1 (Mart 2014): 244-56. https://doi.org/10.5798/diclemedj.0921.2014.01.0411.
EndNote İzmirli M, Aldemir Ö, Gögebakan B, Alptekin D (01 Mart 2014) The studies about diseases concerning with contemplated MTHFR 677 C>T polymorphism. Dicle Tıp Dergisi 41 1 244–256.
IEEE M. İzmirli, Ö. Aldemir, B. Gögebakan, ve D. Alptekin, “The studies about diseases concerning with contemplated MTHFR 677 C>T polymorphism”, diclemedj, c. 41, sy. 1, ss. 244–256, 2014, doi: 10.5798/diclemedj.0921.2014.01.0411.
ISNAD İzmirli, Müzeyyen vd. “The Studies about Diseases Concerning With Contemplated MTHFR 677 C>T Polymorphism”. Dicle Tıp Dergisi 41/1 (Mart 2014), 244-256. https://doi.org/10.5798/diclemedj.0921.2014.01.0411.
JAMA İzmirli M, Aldemir Ö, Gögebakan B, Alptekin D. The studies about diseases concerning with contemplated MTHFR 677 C>T polymorphism. diclemedj. 2014;41:244–256.
MLA İzmirli, Müzeyyen vd. “The Studies about Diseases Concerning With Contemplated MTHFR 677 C>T Polymorphism”. Dicle Tıp Dergisi, c. 41, sy. 1, 2014, ss. 244-56, doi:10.5798/diclemedj.0921.2014.01.0411.
Vancouver İzmirli M, Aldemir Ö, Gögebakan B, Alptekin D. The studies about diseases concerning with contemplated MTHFR 677 C>T polymorphism. diclemedj. 2014;41(1):244-56.

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https://doi.org/10.5798/dicletip.457243