Konya populasyonunda insan leptin reseptor genindeki Gln223Arg polimorfizmi ile osahs arasindaki ıliski analizi
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Dosyalar
Tarih
2009
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Selçuk Üniversitesi Sağlık Bilimleri Enstitüsü
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Obstrüktif apne/hipoapne sendromu obez bireylerde yaygın görülen çok odaklı bir hastalıktır. Obezite ve OSAHS çoklu patofizyolojik mekanizmaları paylaşmaktadır. Leptin hormonu yağ hücrelerinde üretilen ve metabolik kontrolde önemli rolü olan bir sinyal faktörüdür. Leptin iştah ve enerji harcanmasının düzenlenmesinden sorumludur. Leptinin spesifik reseptörü olan LEPR genellikle hipotalamusta işlevseldir. Bu çalışmanın amacı OSAHS ile LEPR genindeki Q223R polimorfizmi arasındaki ilişkiyi açıklamaktır. Çalışmaya Konya popülasyonundan cinsiyeti erkek 88 hasta ve 32 sağlıklı bireyden oluşan kontrol grubu dahil edilmiştir. Bütün hasta ve kontrol bireylerine polisomnografi testi uygulanmıştır. Q223R polimorfizminin obeziteye etkisini görebilmek için Obez/Hasta ve Zayıf/Hasta alt grupları oluşturulmuştur. Gruplar, genotip dağılımı; yaş, BMI (Body Mass İndex), boyun ve bel çevresi, AHI (Apne Hipoapne İndeksi), Total Kolesterol, Trigliserit, HDL (High-density lipoprotein), LDL (Low-density lipoprotein), Kan basıncı (Sistolik ve Diastolik), SpO2 (Oksijen saturasyonu) ve Epwort Uykululuk skalası değişkenleri ile karşılaştırılmıştır. Q223R polimorfizminin genotip dağılımını belirlemek için PZR-RFLP moleküler tanı yöntemi ve MspI restriksiyon enzimi kullanılmıştır. Hasta ve Kontrol bireylerinin arasında yaş, BMI ve PSG karakteristikleri bakımından anlamlı bir farklılık vardı; ancak Hem gruplar hem de genotip dağılımları ve allel sıklıkları arasında lipid paneli ile kan basıncına göre anlamlı bir farklılık bulamadık. Obez/Hasta ve Zayıf/Hasta grupları arasında BMI (P<0,001), AHI (P=0,001), boyun çevresi (P<0,001), bel çevresi (P<0,001), sistolik (P<0,001) ve diastolik (P=0,018) ve SpO2 (P<0,001) arasında anlamlı bir fark vardı. Anlamlı çıkan değişkenlere göre genotip dağılımları ve allel sıklıkları arasında bir etkileşim belirlenmedi. Sadece dominant modelde (QQ-QR/RR) anlamlı bir fark vardı (P=0,01). Zayıf/Hasta ve Kontrol grupları benzer açılardan değerlendirildi. Anlamlı bir farklılık bulunmadı. Sonuç olarak Q223R polimorfizmi ile OSAHS arasında bir ilişki saptanmadı. Leptin reseptöründe belirlenmiş diğer polimorfizmlerin moleküler tarama yöntemleri kullanılarak yeteri kadar veri bulunmayan Türk popülasyonunda leptin reseptörünün OSAHS gelişimine etkisinin araştırılması uygun olacaktır.
Obstructive Sleep Apnea/Hypoapnea Syndrome is a multifactorial disease widely seen in obese individuals. Obesity and OSAHS have shared multi physiopathological mechanisms. Leptin hormone is a adipocyte-derived signaling factor that has an important role in metabolic control. Leptin is responsible for energy expenditure and reduction of food intake and Leptin?s specific receptor (LEPR) is generally functional in hypothalamus. The aim of this study was to investigate the relation between OSAHS and Q223R polymorphisms in LEPR. Our study was included 88 patients and 32 healthy control individuals who were all male, from Konya populations. Diagnostic polysomnography was performed in all patients and control individuals.To see the effect on obesity of Q223R polymorphism was constituted into two subgroups of Weak/Patiens and Obese/Patients. The results between both groups and distributions of genotyping were compared with data of ages, BMI (Body Mass Index), neck and waist circumference, AHI (Apnea Hypoapnea Index), total cholesterol, triglyceride, HDL (High-density lipoprotein), LDL (Low-density lipoprotein), blood pressure, SpO2 (saturation of oxygen) and Epworth Sleepiness Scale. The distribution of genotyping of Q223R polymorphism was determined with the method PCR-RFLP of a molecular diagnostic and MspI restriction enzyme was used. There were statistically significant difference between patients with OSAHS and control individulas in terms of age, BMI, PSG characteristics. Between both groups and distributions of genotyping we could not find statistically significant difference in terms of blood pressure and blood lipids. There were statistically significance differences between subgroups of Weak/Patients and Obese/Patients in term of BMI, AHI, neck and waist circumference, systolic and diastolic blood pressure and SpO2. According to significant results of variables, any interaction was not determined between distributions of genotyping and allel frequencies. There was statistically significant difference only in dominant model. Weak/patients and control groups were also evaluated in the same criterias; it was not found any statistically significant difference. Consequently, it was not determined any relation between Q223R polymorphism and OSAHS. By using molecular research methods of other polymorphisms in Leptin receptor, it is necessary to search the effect of Leptin receptor on OSAHS in Turkish population that there has not enough data. It needs to widespread studies for determination of genetic basic on multifactorial patients like OSAHS.
Obstructive Sleep Apnea/Hypoapnea Syndrome is a multifactorial disease widely seen in obese individuals. Obesity and OSAHS have shared multi physiopathological mechanisms. Leptin hormone is a adipocyte-derived signaling factor that has an important role in metabolic control. Leptin is responsible for energy expenditure and reduction of food intake and Leptin?s specific receptor (LEPR) is generally functional in hypothalamus. The aim of this study was to investigate the relation between OSAHS and Q223R polymorphisms in LEPR. Our study was included 88 patients and 32 healthy control individuals who were all male, from Konya populations. Diagnostic polysomnography was performed in all patients and control individuals.To see the effect on obesity of Q223R polymorphism was constituted into two subgroups of Weak/Patiens and Obese/Patients. The results between both groups and distributions of genotyping were compared with data of ages, BMI (Body Mass Index), neck and waist circumference, AHI (Apnea Hypoapnea Index), total cholesterol, triglyceride, HDL (High-density lipoprotein), LDL (Low-density lipoprotein), blood pressure, SpO2 (saturation of oxygen) and Epworth Sleepiness Scale. The distribution of genotyping of Q223R polymorphism was determined with the method PCR-RFLP of a molecular diagnostic and MspI restriction enzyme was used. There were statistically significant difference between patients with OSAHS and control individulas in terms of age, BMI, PSG characteristics. Between both groups and distributions of genotyping we could not find statistically significant difference in terms of blood pressure and blood lipids. There were statistically significance differences between subgroups of Weak/Patients and Obese/Patients in term of BMI, AHI, neck and waist circumference, systolic and diastolic blood pressure and SpO2. According to significant results of variables, any interaction was not determined between distributions of genotyping and allel frequencies. There was statistically significant difference only in dominant model. Weak/patients and control groups were also evaluated in the same criterias; it was not found any statistically significant difference. Consequently, it was not determined any relation between Q223R polymorphism and OSAHS. By using molecular research methods of other polymorphisms in Leptin receptor, it is necessary to search the effect of Leptin receptor on OSAHS in Turkish population that there has not enough data. It needs to widespread studies for determination of genetic basic on multifactorial patients like OSAHS.
Açıklama
Anahtar Kelimeler
Tıbbi Biyoloji, Medical Biology
Kaynak
WoS Q Değeri
Scopus Q Değeri
Cilt
Sayı
Künye
Küççüktürk, S. (2009). Konya populasyonunda insan leptin reseptor genindeki Gln223Arg polimorfizmi ile osahs arasindaki ıliski analizi. Selçuk Üniversitesi, Yayımlanmış yüksek lisans tezi, Konya.
