ARHGAP42 rs604723 Gen Polimorfizmi Hipertansiyon Tanısı Konulan Kişilerde Nabız Dalga Hızı ile İlişkilidir

Öz

Giriş: Hipertansiyon, yüksek tansiyonla karakterize sistemik bir hastalık olup yaygın olması ve ciddi komplikasyonlara neden olabilmesi nedeniyle toplum için önemli bir tehdit oluşturmaktadır. Gelişiminde, Rho GTPase aktive edici protein 42'yi kodlayan ve yakın zamanda tanımlanan genetik risk faktörü ARHGAP42 gibi genetik ve çevresel faktörler rol oynamaktadır. Çalışmada ARHGAP42'nin intronik rs604723 (C/T) gen polimorfizminin arteriyel sertlik ile ilişkisi araştırılmıştır. Yöntemler: Çalışma grubundaki 63 hipertansiyonlu birey ve 100 sağlıklı kontrol grubundan alınan periferik kan örnekleri, DNA izolasyonunu takiben real time PCR yöntemi ile ARHGAP42 rs604723 gen polimorfizmi varlığı açısından analiz edildi. Çalışma grubundaki deneklerin demografik verileri kaydedilerek kan basıncı, ambulatuvar kan basıncı ve arteriyel sertlik değerleri ölçüldü. Bulgular: Heterozigot polimorfik CT (~2-kat) ve homozigot polimorfik TT (~1,6-kat) genotiplerinin çalışma grubundaki deneklerde kontrol grubuna göre daha yüksek olduğu, CT genotipindeki artışın istatistiksel olarak anlamlı olduğu görüldü (p = 0,006). Benzer şekilde çalışma grubundaki deneklerde polimorfik T alelinin sıklığı daha yüksek (~1,9-kat) ve istatistiksel olarak anlamlı bulunmuştur (p=0,003). Ayrıca heterozigot polimorfik CT ve homozigot polimorfik TT genotiplerinin arteriyel sertliğin bir ölçüsü olan karotis-femoral nabız hızı ile ilişkili olduğu bulunmuştur (p = 0,025). Sonuç: Bu çalışmada ARHGAP42 rs604723 (C/T) gen polimorfizminin hipertansiyonlu bireylerde nabız dalga hızı ile ilişkili olduğu belirlendi. Anti-hipertansif tedavide yaygın olarak kullanılan herhangi bir spesifik ilaç veya ilaçlarla ilişkisinin araştırılması ilgi çekici olacaktır. Böylece gelecekte kişiselleştirilmiş tıp uygulamaları için hipertansif bireylerin genotipine göre uygun ilaç veya ilaçların seçilmesi mümkün olabilecektir.

Anahtar Kelimeler

• hipertansiyon
• kan basıncı
• arteriyel sertlik
• ARHGAP42
• rs604723
• gen polimorfizmi.

ARHGAP42 rs604723 Gene Polymorphism Is Associated With Pulse Wave Speed In Hypertension Diagnosed Subjects

Öz

Introduction: Hypertension is a systemic disease characterized by high blood pressure and an important threat for the population, as it is common and can cause serious complications. Genetic and environmental factors are involved in its development like the recently defined genetic risk factor ARHGAP42 that encodes the Rho GTPase activating protein 42. In the study, the intronic rs604723 (C/T) gene polymorphism of ARHGAP42 was investigated in relation to arterial stiffness. Methods: Peripheral blood samples, taken from 63 study group subjects with hypertension and 100 healthy subject as control, were analyzed for the presence of the ARHGAP42 rs604723 gene polymorphism by a real-time PCR method following DNA isolation. Demographic data of the study group subjects were recorded and blood pressure, ambulatory blood pressure and arterial stiffness values were measured. Results: The heterozygous polymorphic CT (~2-fold) and homozygous polymorphic TT (~1.6-fold) genotypes were found to be higher in study group subjects when compared to the control group subjects, whereby the increase of the CT genotype was statistically significant (p = 0.006). Similarly, the frequency of the polymorphic T allele was found to be higher (~1.9-fold) and statistically significant (p = 0.003) in the study group subjects. In addition, the heterozygous polymorphic CT and homozygous polymorphic TT genotypes were found to be associated with carotid-femoral pulse velocity, which is a measure of arterial stiffness (p = 0.025). Conclusion: In this study, the ARHGAP42 rs604723 (C/T) gene polymorphism was found to be associated with pulse wave speed in subjects with hypertension. It will be of interest, to investigate its association with any specific drug or drugs commonly used in anti-hypertensive therapy. Thus, it would be possible to select the appropriate drug or drugs according to the hypertensive subjects’ genotype to carry out personalized medicine in future.

Anahtar Kelimeler

• hypertension
• blood pressure
• arterial stiffness
• ARHGAP42
• rs604723
• gene polymorphism.

Kaynakça

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