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

Year 2019, , 243 - 249, 28.05.2019

İbrahim Açıkbaş , Buket Er Urgancı Dursun Dursunoğlu Asuman Kaftan

https://doi.org/10.31362/patd.482444

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

Abstract

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.

Keywords

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

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