Obez ve sağlıklı çocuklarda leptin ve leptin reseptör gen polimorfizmleri

Amaç: Bu çalışmada obezitede etkili olduğu düşünülen leptin (LEP G-2548A) ve leptin reseptör gen (LEPR Q223R, LEPR K109R ve LEPR K656N tek nükleotid polimorfizmleri) varyantlarındaki farklılıkların araştırılması amaçlanmıştır. Ayrıca bu farklılıkların serum leptin düzeyi ile olan ilişkisinin incelenmesi planlanmıştır.Gereç ve Yöntem: Çalışmamıza toplam 300 (150 obez çocuk, 150 sağlıklı çocuk) gönüllü (12-17 yaş aralığında) katılmıştır. Bu kişilerden alınan kan örneklerinden DNA izolasyonu yapılmıştır. İzole edilen DNA örnekleri RealTime PCR ile çoğaltılmış leptin reseptör geninde polimorfizm bakılmıştır. Leptin genindeki varyasyon ise restriksiyon fragment uzunluk polimorfizmi yöntemiyle saptanmıştır.Bulgular: Genotip dağılım hesaplamaları sonucunda K109R polimorfizminin kontrol grubunda AA genotipin hasta grubuna göre düşük, AG genotipin ise yüksek görüldüğü belirlenmiştir. Q223R polimorfizminin kontrol grubunda AA genotipin hasta grubuna göre yüksek, AGgenotipin ise düşük olduğu görülmüştür. K656N ve G2548A polimorfizmlerinin hasta ve kontrol gruplarındaki genotip dağılımlarında belirgin bir farklılık bulunamamıştır. Dahası antropometrik ve metabolik sonuçların hasta grubunda kontrol grubuna göre anlamlı derecede yüksekolduğu tespit edilmiştir.Sonuç: LEPR Q223R polimorfizminin hasta grupta AA genotipinin daha düşük, AG genotipinin daha yüksek dağılımı ve G allelinin daha yüksek oranla görülmüştür. Bu nedenle obeziteyle ilişkili olabileceği düşünülmüştür. 

Leptin and leptin receptor gene polymorphisms in obese and healthy children

Purpose: The of this study is to explore the differences between leptin (LEPG2548A), which is considered efficacious in respect of adiposity and leptin receptor gene variants (LEPRQ223R, K109R, K656N). Furthermore, the relationship between these differences and the serum leptin level shall be scrutinized. Materials and Methods: A total of 300 volunteers (12-17 years of age) joined our study (150controls–150obese). Blood samples obtained from these individuals were used for DNA isolation. An examination was carried out in order to show polymorphisms of the leptin receptor gene increased by RealTime PCR previously. The variations of the leptin gene were ascertained by implementation of restriction fragment length polymorphism method. Results: Genotype dispersion calculations led to the understanding that the AA-genotype was lower in the K109R polymorphism control group than in the patient group, whereas AG-genotype was higher. The control group of Q223R polymorphism had higher AA-genotype values than the patient group, whereas it showed lower AG-genotype values. Moreover, anthropometric and metabolic results were found to be significantly higher (p in the patient group than in the control group.Conclusion: The patient group of LEPRQ223R polymorphism showed lower AA-genotype values, a higher AG-genotype dispersion and a higher allele-G value. Therefore, a relationship to adiposity has been assumed. 

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Cukurova Medical Journal-Cover
  • ISSN: 2602-3032
  • Yayın Aralığı: Yılda 4 Sayı
  • Başlangıç: 1976
  • Yayıncı: Çukurova Üniversitesi Tıp Fakültesi
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