INTRODUCTION: Serotonin transporter protein which is coded by 5HTT gene is responsible for presynaptic reuptake of serotonin. In this study, we investigated the relationship between polymorphisms in the promoter region (5-HTTLPR) and in the second intron (VNTR) in the 5-HTTgene and adenotonsillar hypertrophy (ATH) in pediatric cases. METHODS: Genotyped of the 5-HTT gene promotor 5-HTTLPR and intronic VNTR of in 197 children were analyzed using Snap Shot, Multifactor Dimensionality Reduction (MDR) software and carried out to assess the interactions among two polymorphisms and phenotype. RESULTS: A total of 119 children with ATH (48 girls, 71 boys age range: 3-10 years; mean age: 5.38 years) and 78 healthy children (27 girls, 51 boys, age range: 4-13 years; mean age: 6.76 years) were included in this study. The frequencies of the genotype in all of inheritance models of the 5-HTTLPR and the VNTR (10) allele showed no significant differences between ATH patient and healthy controls (for all P> 0.05). However, frequency of the 5-HTTLPR (S) allele and VNTR_5-HTTLPR (10/S) haplotype and (10/10+S/S) diplotype were significantly higher in the control group compared to ATH cases (P= 0.048, P= 0.041, P= 0.13). DISCUSSION AND CONCLUSION: In this study, we observed that S/S genotype, 10/S haplotype and 10/10 + S/S diplotype of 5-HTT gene could have protective effect against ATH.
GİRİŞ ve AMAÇ: 5HTT geni tarafından kodlanan serotonin taşıyıcı protein, serotoninin presinaptik geri alımından sorumludur. Bu çalışmada pediatrik olgularda 5-HTT genindeki promotör (5-HTTLPR) ve ikinci intron (VNTR) bölgedeki polimorfizmler ile adenotonsiller hipertrofi (ATH) arasındaki ilişkiyi araştırdık. YÖNTEM ve GEREÇLER: 197 çocuğun 5-HTT gen promotor 5-HTTLPR ve intronic VNTR’si Snap Shot ile genotiplendirilerek, polimorfizmlerin birbiri ve fenotip arasındaki etkileşimler Çok Faktörlü Boyut Azaltma (Multifactor Dimensionality Reduction; MDR) programı ile analiz edildi. BULGULAR: Çalışmaya ATH tanısı almış 119 hasta (48 kız, 71 erkek yaş aralığı: 3-10 yıl; ortalama yaş: 5.38 yıl) ve 78 sağlıklı çocuk (27 kız, 51 erkek, yaş aralığı: 4-13 yıl; ortalama yaş: 6.76 yıl) dahil edildi. 5-HTTLPR (S) ve VNTR (10) allelinin tüm kalıtım modellerinde genotipik frekanslar açısından, ATH’li ile kontrol grubu arasında anlamlı bir fark gözlenmedi (tümü için P> 0.05). Bununla birlikte, 5-HTTLPR (S) allel ve VNTR_5-HTTLPR (10 / S) haplotip ve (10/10 + S / S) diplotipinin sıklığı ATH olgularına göre kontrol grubunda anlamlı olarak daha yüksekti (sırasıyla, P= 0.048, P = 0.041, P = 0.13). TARTIŞMA ve SONUÇ: 5-HTT geninin S / S genotipi, 10 / S haplotipi ve 10/10 + S / S diplotipinin ATH’ye karşı koruyucu etkisi olabilir.
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