Anjiyotensin dönüştürücü enzim ve anjiyotensin II tip 1 reseptörü gen polimorfizmlerinin Trakya bölgesindeki Türk hastalarda görülen iskemik inme ile ilişkisi

Amaç: Bu çalışmanın amacı, Trakya bölgesinde yaşayan iskemik inme geçirmiş hastalarda ACE insersiyon/delesyon (I/D) ve AT1R (A1166C) gen polimorfizmlerinin sıklığını, vasküler risk faktörleri ve inme alt-grupları ile ilişkisini araştırmaktır. Hastalar ve Yöntemler: Çalışmaya 162 iskemik inme geçirmiş hasta ile 146 sağlıklı olgu alındı. İskemik inme hastaları, ORG 10172 Akut İnme Tedavisi (TOAST) kriterlerine göre büyük ve küçük damar hastalığı olarak inme alt gruplarına ayrıldı. ACE I/D polimorfizmi polimeraz zincir reaksiyonu (PZR), AT1R (A1166C) gen polimorfizmi ise PZR ve restriksiyon fragment uzunluk polimorfizmi (RFLP) yöntemleri kullanılarak yapıldı. Bulgular: Hasta grubundaki ACE I/D genotip dağılımı (DD=34.0%, ID=50.0%, II=16.0%), kontrol grubu ile karşılaştırıldığında (DD=34.3%, ID=49.7%, II=16.1%) fark bulunmadı. Ayrıca hasta grubundaki AT1R (A1166C) genotip dağılımları ile (AA=58.0%, CA=34.6% ve CC=7.4%) kontrol grubu ile karşılaştırıldığında (AA=60.1%, CA=35.7% ve CC=4.2%) anlamlı fark saptanmadı. Her iki inme alt grubu arasında ACE I/D ve AT1R (A1166C) polimorfizmlerinin dağılımı açısından farklılık bulunmadı. Sonuç: Çalışmamızda Trakya bölgesinde yaşayan insanlarda ACE I/D ve AT1R (A1166C) gen polimorfizmlerinin iskemik inme gelişmesinde genetik risk faktörleri olmadıkları belirlendi.Objectives: The aim of this study was to investigate the frequency of ACE insertion/deletion (I/D) and AT1R (A1166C) gene polymorphisms in ischemic stroke patients in Trakya region and the relation between these gene polymorphisms and stroke subtypes and vascular risk factors. Patients and Methods: The study involved 162 patients with ischemic stroke and 146 control subjects. Ischemic stroke patients were divided into large and small vessel disease subgroups according to ORG 10172 in Acute Stroke Treatment TOAST criteria. The ACE I/D polymorphism was investigated using polymerase chain reaction (PCR), and the AT1R (A1166C) polymorphism was identified using PCR and restriction fragment length polymorphism (RFLP) assay. Results: The ACE I/D genotype distribution in patients (DD=34.0%, ID=50.0%, II=16.0%) did not differ from those in controls (DD=34.3%, ID=49.7%, II=16.1%). The AT1R A1166C genotype distribution in patients (AA=58.0%, CA=34.6%, CC=7.4%) did not significantly differ from those in controls (AA=60.1%, CA=35.7%, CC=4.2%). There was also no difference among the stroke subgroups regarding the distribution of ACE I/D and AT1R (A1166C) polymorphisms. Conclusion: Our results show that ACE I/D and AT1R (A1166C) gene polymorphisms were not genetic risk factors for ischemic stroke in subjects in Trakya region

Endothelial Nitric Oxide Synthase and Angiotensin Converting Enzyme Gene Polymorphisms in MigrainePatients

Giriş: Bu çalışmada migren ile endotelyal nitrik oksit sentaz (eNOS) geni intron 4de, 27 bazlık tekrarlardan oluşan Ardışık Kopya Sayısı Tekrarları (VNTR) ve anjiyotensin dönüştürücü enzim (ADE) genindeki insersiyon/delesyon polimorfizmlerinin ilişkisi araştırıldı. Yön­tem­ler: Çalışmaya 105 migren başağrısı olan ve 97 sağlıklı kadın birey alındı. Migren hastaları auralı ve aurasız olmak üzere iki gruba ayrılırken, migren atak sıklığı ve şiddeti kaydedildi. eNOS VNTR (eNOS 4a/b) ve ADE insersiyon/delesyon polimorfizmleri (ADE I/D) polimorfizmleri polimeraz zincir reaksiyonu yöntemi ile belirlendi. Bul­gu­lar: eNOS 4 a/b gen polimorfizminin alel ve genotip sıklıkları migren ile kontrol grubu arasında farklılık göstermedi. ADE I/D gen polimorfizminin migren grubunda genotipik dağılımı kontrol grubundan anlamlı olarak farklı bulundu. DD ve ID genotiplerinin II genotipine göre migren olasılığını 2,571 (%95 CI- 1,138-5,811) ile 4,453 (%95 CI- 2,006-9,883) oranında artırdığı saptandı. Aynı risk artışı auralı migren alt grubunda her iki genotip için sürerken, aurasız migren grubunda sadece ID genotipi için korundu (OR- 3,750, %95 CI- 1,493-9,420). Migren sıklığı ve şiddeti ile gen polimorfizmleri arasında ilişki gözlenmedi. So­nuç: Çalışmamız ADE I/D gen polimorfizmi ile migren ilişkisini desteklemiştir. Ancak eNOS 4 a/b gen polimorfizmi ile migren arasında ilişki gösterilememiştir. (Nö­rop­si­ki­yat­ri Ar­fli­vi 2013; 50: 274-278)Introduction: In this study, we investigated the association of migraine with the Variable Number of Tandem Repeats (VNTR), repeated as 27 base pair, gene polymorphism in intron 4 of the endothelial nitric oxide synthase (eNOS) and the insertion/deletion of angiotensin converting enzyme (ACE) gene polymorphisms. Met­hods: One hundred and five migraine and ninety seven healthy female control subjects were enrolled in the study. The patients were subdivided as migraine with aura and without aura, and the frequency and severity of migraine headaches were recorded. The eNOS VNTR (eNOS 4 a/b) and ACE insertion/deletion gene polymorphisms (ACE I/D) were assessed by polymerase chain reactions. Re­sults: The allele and genotype frequencies of eNOS 4 a/b gene polymorphism showed no difference between the migraine and control groups. The genotypic distribution of the ACE I/D gene polymorphism in the migraine group significantly differed from that in the control group . The DD and ID genotype increased the risk of migraine as much as 2.571 (95% CI-1.138-5.811) and 4.453 (95% CI-2.006-9.883) compared to the II genotype. The same increased risk sustained for both genotypes in the migraine with aura subgroup, but only the ID genotype remained as the risk factor in the migraine without aura subgroup (OR- 3.750, 95% CI- 1.493-9.420). No association of gene polymorphisms with migraine frequency and severity was observed. Conc­lu­si­on: Our findings support the relationship between migraine and the ACE I/D gene polymorphism. However, no association was found between migraine and the eNOS 4 a/b gene polymorphism. (Arc­hi­ves of Neu­ropsy­chi­atry 2013; 50: 274-278

An epidemiologic investigation of amyotrophic lateral sclerosis in Thrace, Turkey, 2006-2010

Objective: The aim of the study was to investigate the incidence and prevalence of amyotrophic lateral sclerosis (ALS) in Thrace, Turkey in a five-year time period (2006-2010). Methods: Study population included residents of three provinces (Edirne, Tekirdag, Kirklareli) in the Thrace region. Cases were ascertained from all of the neurologic centers and hospitals of these provinces. Demographic and clinical information was collected for each patient. Newly diagnosed ALS patients who are fulfilling the El Escorial revised diagnostic criteria were enrolled into the study. Results: We identified a total of 145 patients (93 males, 52 females). The mean age at diagnosis was 57.0 +/- 13.6. According to El Escorial criteria, 60.0% of the cases were definite ALS, 24.8% were probable, and 15.2% were possible ALS. Thirty-two cases were bulbar (22.1%), 113 cases (77.9%) were spinal onset. Mean time delay from onset to diagnosis was 12.0 +/- 11.2 months. Age-gender standardized incidence rates with reference to Turkey, USA 2008 census were 1.9 (95% confidence interval (CI), 1.8-2.1), 1.9 (95%CI, 1.8-2.2) for overall. There were 112 living ALS patients at the end of the study. Crude point prevalence was calculated as 7.3 per 100,000 population (95%CI, 5.9-8.7). Conclusions: This is the first study to provide fundamental data about demographic and clinical characteristics about ALS in Thrace region of Turkey. Incidence and prevalence of ALS in Thrace region of Turkey appear to be comparable with European countries