Detection of the 5HT2C polymorphism in myocardial infarction and cardiovascular event patients

Abstract

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.

Keywords

• 5HT2C,myocardial infarction,coronary artery disease,polymorphism,cardiovascular

Miyokard enfarktüsü ve kardiyovasküler olay geçiren hastalarda 5HT2C polimorfizminin saptanması

Öz

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.

Anahtar Kelimeler

• 5HT2C,Miyokard enfarktüs,Koroner arter hastalığı,Polimorfizm,Kardiyovasküler

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