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Öğe Association with Leptin Gene c.-2548 G>A Polymorphism, Serum Leptin Levels, and Body Mass Index in Turkish Obese Patients(Humana Press Inc, 2013) Sahin, Deniz Say; Tumer, Cemil; Demir, Cemil; Celik, M. Murat; Celik, Mustafa; Ucar, Edip; Gunesacar, RamazanLeptin is a protein hormone which plays a critical role in the regulation of both body-weight through reducing food intake and stimulating energy expenditure. Several polymorphisms in leptin gene (LEP), which encodes for leptin, have been described. However, its association with obesity is still controversial. Therefore, in the present study, we aimed to investigate whether LEP c.-2548 G > A polymorphism was associated with serum leptin levels, lipid parameters, and body mass index in Turkish obese patients. Forty-seven obese patients and 48 healthy individuals were included in the study. Blood samples were collected for DNA extraction. LEP c.-2548 G > A polymorphism were detected using polymerase chain reaction-restriction fragment length polymorphism technique. Serum leptin levels and lipid parameters were measured by ELISA and enzyme colorimetric assay techniques, respectively. GA or AA genotypes and A allele carrier frequencies of the c.-2548 G > A polymorphism in the LEP were higher in obese (38.3, 34.0 and 72.3 %) when compared with controls (14.6, 12.5, and 27.1 %; p = 0.011, 0.016, and 0.002, respectively). On the other hand, AA or AG genotypes were also related to increased serum leptin levels (p < 0.001) and body mass index (p < 0.0001). All these consequences showed that LEP -2548 AA or AG genotypes are important predictors for increased levels of leptin and BMI in Turkish obese patients and it may be a useful marker for obesity risk in our population.Öğe Investigation of the clinical and hematological significance of the first observed hemoglobin Ernz variant [?123(H1) Thr>Asn] in the Turkish population(Tubitak Scientific & Technological Research Council Turkey, 2012) Gunesacar, Ramazan; Celik, Muhammet Murat; Ozturk, Oktay Hasan; Celik, Mustafa; Tumer, Cemil; Celik, TanjuAim: In this report, we aimed to investigate the clinical and hematological significance of the first observed hemoglobin Ernz variant in the Turkish population. Materials and methods: We identified the Hb Ernz variant in 3 nonrelated females (Probands 1, 2, and 3). Proband l's family was also included the study. Hematological data were obtained with an automated cell counter and routine methodology. The beta-globin gene was sequenced by automatic sequencing. Results: Proband 1 was detected as a combination of Hb Ernz/Hb S without any clinical symptoms. Her sister and brother had to be an Hb Ernz/Hb S combination. Her mother and father only showed Hb Ernz and Hb S, respectively. Proband 2 had the Hb Ernz variant with IVS-I 5nt homozygous alpha 2 gene mutation. Proband 3 had a heterozygous Hb Ernz variant. All subjects were clinically and hematologically normal but Proband 2 had low hemoglobin, hematocrit, mean corpuscular volume, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration, and high red blood cell distribution width levels. Conclusion: In the present study, the Hb Ernz variant is demonstrated for the first time in the Turkish population. Additionally, there is no published report in the world literature of Hb Ernz in combination with IVS-I 5nt homozygote mutation in the alpha-globin gene or Hb S variant. The present report shows that the Hb Ernz variant is not clinically or hematologically significant.