Year 2019, Volume 12, Issue 2, Pages 243 - 249 2019-05-28

Miyokard enfarktüsü ve kardiyovasküler olay geçiren hastalarda 5HT2C polimorfizminin saptanması
Detection of the 5HT2C polymorphism in myocardial infarction and cardiovascular event patients

İbrahim Açıkbaş [1] , Buket Er Urgancı [2] , Dursun Dursunoğlu [3] , Asuman Kaftan [4]

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Amaç: Kardiyovasküler hastalıklardan (KV) ölümler dünya genelinde ilk sırada yer almaktadır. Etiyolojide genetik, çevre, beslenme ve yaşam tarzının etkileri bulunmaktadır. Genom tarama çalışmaları, koroner arter hastalıklarıyla (KAH) ilişkili çeşitli genler (lipid, homosistein, glukoz, metabolizmaları, renin-anjiyotensin, fibnolitik, inflamasyon sistemlerinde rol alan genler) ortaya çıkarmıştır. Bunların arasında tek başına direk ve bağımsız bir prediktif faktör olarak öne çıkan yok gibidir. Son yapılan bir çalışmada 5HTR2C genine ait rs6318 polimorfizminin, KAH ve Miyokard enfarktüs (MI) riskini belirlemede beklenen özellikleri karşılayabileceği ortaya çıkmıştır. Çalışmamızın amacı MI ve KAH tanısı alan hastalarda 5HTR2C genindeki rs6318 polimorfizmini belirlemek ve sağlıklı bireylerle karşılaştırarak koruyucu ve riskli allelleri tespit etmektir.

Gereç ve yöntem: Çalışmamız 142 hasta ve 100 kontrol olmak üzere iki gruptan oluşmaktadır. Venöz kandan DNA izolasyonu yapıldı ve "erime eğrisi genotiplemesi" analizi gerçekleştirildi.

Bulgular: GC genotipi, olgu grubunda %4,9, kontrol grubunda %27 idi. GC genotipi, KV hastalığına karşı koruyucu olarak bulundu (p=0,01). Ek olarak, GC genotipli deneklere MI tanısı konmadığı gözlemi, çalışmamızda GC genotipinin MI için koruyucu olduğunu düşündürdü. Ayrıca MI'lı olgularda sadece 1 hastanın (%0,9) CC homozigot olduğu, 12'sinde (%11) ise C hemizigot olduğu saptandı.

Sonuç: C allelinin belirgin bir istatistiksel anlamlılık olmamasına rağmen, KV hastalıklarına karşı koruyucu bir etkiye sahip olduğunu göstermektedir.

Purpose: Deaths from cardiovascular (CV) disease are prevalent worldwide. Genetics, environment, nutritional habits, and lifestyle are major factors in the etiology of Coronary artery disease (CAD). Certain genes (that play roles in lipid, homocysteine, glucose metabolism, renin-angiotensin, fibrinolytic, and inflammation systems) have been found in association with CAD by genome-wide association studies. The present genes are not important for direct and independent prediction. A recent study on the rs6318 polymorphism of the serotonin receptor 2C (5HT2C) gene in the prediction of CAD and myocardial infarction (MI) can meet the expected criteria. The aim of our study is to determine the predictive and risk alleles of the rs6318 polymorphism of the 5HT2C gene by comparing healthy subjects with patients diagnosed with MI and CAD.

Materials and Methods: The study consisted of two groups: 142 patients and 100 controls. DNA was isolated from venous blood and "melting curve genotyping" analysis was performed.

Results: GC genotype was 4.9% in the case group and 27% in the control group. The GC genotype is protective against CV disease (p=0.01). In addition, the observation that no GC genotyped subjects were diagnosed with MI suggests that the GC genotype is protective for MI in our study. Also, among cases with MI, it was found that only 1 patient (0.9%) was CC homozygote, while there were 12 patients (11%) that were C hemizygotes. 

Conclusion: The results suggest that the C allele has a protective effect against CV diseases, although no clear statistical significance is found.

  • Mathers CD, Loncar D, Boreham J, Thun M, Heath J, Doll R. Projections of Global Mortality and Burden of Disease from 2002 to 2030. Samet J, editor. PLoS Med. World Bank; 2006;3[11]:e442. Available from: http://dx.plos.org/10.1371/journal.pmed.0030442
  • WHO. Global atlas on cardiovascular disease prevention and control. World Health Organization. Geneva, World Health Organization; 2017. Available from: http://www.who.int/mediacentre/factsheets/fs317/en/
  • TÜİK. Türkiye İstatistik Kurumu, Ölüm Nedeni İstatistikleri, 2016. Türkiye İstatistik Kurumu. 2017. Available from: http://www.tuik.gov.tr/PreHaberBultenleri.do?id=24572
  • Chico TJ, Milo M, Crossman DC. The genetics of cardiovascular disease: new insights from emerging approaches. J Pathol 2009;220[2]:186–97.
  • Delles C, Mcbride MW, Padmanabhan S, Dominiczak AF. The genetics of cardiovascular disease. Trends Endocrinol Metab 2008;19[9]:309–16.
  • Abbate R, Sticchi E, Fatini C. Study at Molecular and Clinical Level of Chronic, Degenerative and Neoplastic Diseases to Develop Novel Therapies. Clin Cases Miner Bone Metab. 2008;5[1]:63–6.
  • Marrugat J, D’Agostino R, Sullivan L, Elosua R, Wilson P, Ordovas J, et al. An adaptation of the Framingham coronary heart disease risk function to European Mediterranean areas. J Epidemiol Community Health 2003;57[8]:634–8.
  • Janssens ACJW, Aulchenko YS, Elefante S, Borsboom GJJM, Steyerberg EW, van Duijn CM. Predictive testing for complex diseases using multiple genes: Fact or fiction? Genet Med. 2006;8[7]:395–400.
  • Graham I, Atar D, Borch-Johnsen K, Boysen G, Burell G, Cifkova R, et al. Fourth Joint Task Force of the European Society of Cardiology and Other Societies on Cardiovascular Disease Prevention in Clinical Practice. Eur J Cardiovasc Prev Rehabil. 2007;14[2]:E1–40.
  • Ripatti S, Tikkanen E, Orho-Melander M, Havulinna AS, Silander K, Sharma A, et al. A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. Lancet 2010;376[9750]:1393–400.
  • Vaarhorst AAM, Lu Y, Heijmans BT, Dollé MET, Böhringer S, Putter H, et al. Literature-Based Genetic Risk Scores for Coronary Heart Disease Clinical Perspective. Circ Cardiovasc Genet. 2012;5[2]:202–9.
  • van der Net JB, Janssens ACJW, Sijbrands EJG, Steyerberg EW. Value of genetic profiling for the prediction of coronary heart disease. Am Heart J. 2009;158[1]:105–10.
  • Humphries SE, Yiannakouris N, Talmud PJ. Cardiovascular disease risk prediction using genetic information (gene scores): is it really informative? Curr Opin Lipidol. 2008;19[2]:128–32.
  • Brummett BH, Babyak MA, Jiang R, Shah SH, Becker RC, Haynes C, et al. A Functional Polymorphism in the 5HTR2C Gene Associated with Stress Responses Also Predicts Incident Cardiovascular Events. Plos One 2013;8[1]:e8278.
  • Abacı A. Kardiyovasküler risk faktörlerinin ülkemizdeki durumu. Türk Kardiyol Dern Arş -Arch Turk Soc Cardiol. 2011;39[4]:1–5.
  • Onat A, Can G, Yüksel H, Ademoğlu E, Erginel-Ünaltuna N, Kaya A, et al. Tıp Dünyasının Kronik Hastalıklara Yaklaşımına Öncülük [Internet]. Onat A, editor. İstanbul: Lagos Yayıncılık; 2017. 20-28 p.
  • Vasan RS. Biomarkers of Cardiovascular Disease. Circulation 2006;113[19]:2335–62.
  • Yiannakouris N, Katsoulis M, Dilis V, Parnell LD, Trichopoulos D, Ordovas JM, et al. Genetic predisposition to coronary heart disease and stroke using an additive genetic risk score: a population-based study in Greece. Atherosclerosis 2012;222[1]:175–9.
  • Hlatky MA, Chair F, Greenland P, Arnett DK, Ballantyne CM, et al. Criteria for Evaluation of Novel Markers of Cardiovascular Risk: A Scientific Statement From the American Heart Association on behalf of the American Heart Association Expert Panel on Subclinical Atherosclerotic Diseases and Emerging Risk Factors and the Stroke Council. Circulation 2009;119[17]:2408–16.
  • Marrugat J, Vila J, Baena-Diez JM, Grau M, Sala J, Ramos R, et al. Relative Validity of the 10-Year Cardiovascular Risk Estimate in a Population Cohort of the REGICOR Study. Rev Esp Cardiol. 2011;64[5]:385–94.
  • Han Y, Yang Y, Zhang X, Yan C, Xi S, Kang J. Relationship of the CAG repeat polymorphism of the MEF2A gene and coronary artery disease in a Chinese population. Clin Chem Lab Med. 2007;45[8]:987–92.
  • O’Neil R. Role of the 5HT2c receptor in regulation of metabolism and mesolimbic dopamine. VANDERBILT Rev | Neurosci. 2010;2[1]:19–24.
  • Wei Z, Wang L, Xuan J, Che R, Du J, Qin S, et al. Association analysis of serotonin receptor 7 gene [HTR7] and risperidone response in Chinese schizophrenia patients. Prog Neuro-Psychopharmacology Biol Psychiatry 2009;33[3]:547–51.
  • Hoyer D, Hannon JP, Martin GR. Molecular, pharmacological and functional diversity of 5-HT receptors. Pharmacol Biochem Behav. 2002;71[4]:533–54.
  • NCBI. HTR2C 5-hydroxytryptamine receptor 2C [Internet]. NCBI. 2018 [cited 2018 Jul 5]. Available from: https://www.ncbi.nlm.nih.gov/gene/3358
  • Opgen-Rhein C, Brandl EJ, Müller DJ, Neuhaus AH, Tiwari AK, Sander T, et al. Association of HTR2C , but not LEP or INSIG2 , genes with antipsychotic-induced weight gain in a German sample. Pharmacogenomics 2010;11[6]:773–80.
  • Bah J, Westberg L, Baghaei F, Henningsson S, Rosmond R, Melke J, et al. Further exploration of the possible influence of polymorphisms in HTR2C and 5HTT on body weight. Metabolism 2010;59[8]:1156–63.
  • Brummett BH, Kuhn CM, Boyle SH, Babyak MA, Siegler IC, Williams RB. Cortisol responses to emotional stress in men: Association with a functional polymorphism in the 5HTR2C Gene. Biol Psychol. 2012;89[1]:94–8.
Primary Language en
Subjects Medicine
Published Date Mayıs 2019
Journal Section Research Article
Authors

Author: İbrahim Açıkbaş (Primary Author)
Institution: FACULTY OF MEDICINE
Country: Turkey


Author: Buket Er Urgancı
Institution: FACULTY OF MEDICINE
Country: Turkey


Author: Dursun Dursunoğlu
Institution: FACULTY OF MEDICINE
Country: Turkey


Author: Asuman Kaftan
Institution: FACULTY OF MEDICINE
Country: Turkey


Bibtex @research article { patd482444, journal = {Pamukkale Tıp Dergisi}, issn = {}, eissn = {1308-0865}, address = {Pamukkale University}, year = {2019}, volume = {12}, pages = {243 - 249}, doi = {10.31362/patd.482444}, title = {Detection of the 5HT2C polymorphism in myocardial infarction and cardiovascular event patients}, key = {cite}, author = {Açıkbaş, İbrahim and Er Urgancı, Buket and Dursunoğlu, Dursun and Kaftan, Asuman} }
APA Açıkbaş, İ , Er Urgancı, B , Dursunoğlu, D , Kaftan, A . (2019). Detection of the 5HT2C polymorphism in myocardial infarction and cardiovascular event patients. Pamukkale Tıp Dergisi, 12 (2), 243-249. DOI: 10.31362/patd.482444
MLA Açıkbaş, İ , Er Urgancı, B , Dursunoğlu, D , Kaftan, A . "Detection of the 5HT2C polymorphism in myocardial infarction and cardiovascular event patients". Pamukkale Tıp Dergisi 12 (2019): 243-249 <http://dergipark.org.tr/patd/issue/45448/482444>
Chicago Açıkbaş, İ , Er Urgancı, B , Dursunoğlu, D , Kaftan, A . "Detection of the 5HT2C polymorphism in myocardial infarction and cardiovascular event patients". Pamukkale Tıp Dergisi 12 (2019): 243-249
RIS TY - JOUR T1 - Detection of the 5HT2C polymorphism in myocardial infarction and cardiovascular event patients AU - İbrahim Açıkbaş , Buket Er Urgancı , Dursun Dursunoğlu , Asuman Kaftan Y1 - 2019 PY - 2019 N1 - doi: 10.31362/patd.482444 DO - 10.31362/patd.482444 T2 - Pamukkale Tıp Dergisi JF - Journal JO - JOR SP - 243 EP - 249 VL - 12 IS - 2 SN - -1308-0865 M3 - doi: 10.31362/patd.482444 UR - https://doi.org/10.31362/patd.482444 Y2 - 2019 ER -
EndNote %0 Pamukkale Tıp Dergisi Detection of the 5HT2C polymorphism in myocardial infarction and cardiovascular event patients %A İbrahim Açıkbaş , Buket Er Urgancı , Dursun Dursunoğlu , Asuman Kaftan %T Detection of the 5HT2C polymorphism in myocardial infarction and cardiovascular event patients %D 2019 %J Pamukkale Tıp Dergisi %P -1308-0865 %V 12 %N 2 %R doi: 10.31362/patd.482444 %U 10.31362/patd.482444
ISNAD Açıkbaş, İbrahim , Er Urgancı, Buket , Dursunoğlu, Dursun , Kaftan, Asuman . "Detection of the 5HT2C polymorphism in myocardial infarction and cardiovascular event patients". Pamukkale Tıp Dergisi 12 / 2 (May 2019): 243-249. https://doi.org/10.31362/patd.482444