Sami Engin MUZ, Işılay ÖZ, Sibel ÖZDAŞ, Talih ÖZDAŞ, Sibel BAŞTİMUR, Mahmut Huntürk ATİLLA, İpek CANATAR

5-HTT Geninin 5-HTTLPR (S) ve VNTR (10) Alel Kombinasyonlarının Adenotonsiller Hipertrofiye Karşı Koruyucu Etkisi

GİRİŞ ve AMAÇ: 5HTT geni tarafından kodlanan serotonin taşıyıcı protein, serotoninin presinaptikgeri alımından sorumludur. Bu çalışmada pediatrik olgularda 5-HTT genindeki promotör (5-HTTLPR)ve ikinci intron (VNTR) bölgedeki polimorfizmler ile adenotonsiller hipertrofi (ATH) arasındaki ilişkiyiaraştırdık. YÖNTEM ve GEREÇLER: 197 çocuğun 5-HTT gen promotor 5-HTTLPR ve intronic VNTR’si SnapShot ile genotiplendirilerek, polimorfizmlerin birbiri ve fenotip arasındaki etkileşimler Çok FaktörlüBoyut 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’liile 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 görekontrol 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 diplotipininATH’ye karşı koruyucu etkisi olabilir.

Protective Effect of 5-HTTLPR (S) and VNTR (10) Allele Combinationsof5-HTT Gene Against Adenotonsillary Hypertrophy

INTRODUCTION: Serotonin transporter protein which is coded by 5HTT gene is responsible forpresynaptic reuptake of serotonin. In this study, we investigated the relationship between polymorphismsin the promoter region (5-HTTLPR) and in the second intron (VNTR) in the 5-HTTgene and adenotonsillarhypertrophy (ATH) in pediatric cases. METHODS: Genotyped of the 5-HTT gene promotor 5-HTTLPR and intronic VNTR of in 197 childrenwere analyzed using Snap Shot, Multifactor Dimensionality Reduction (MDR) software and carried out toassess 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: 5.38years) and 78 healthy children (27 girls, 51 boys, age range: 4-13 years; mean age: 6.76 years) wereincluded in this study. The frequencies of the genotype in all of inheritance models of the 5-HTTLPR andthe VNTR (10) allele showed no significant differences between ATH patient and healthy controls (for allP> 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 and10/10 + S/S diplotype of 5-HTT gene could have protective effect against ATH.

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