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<abstract><sec> <title>Objective</title> <p>The objective of the present study was to identify the leptin gene expression and the leptin receptor polymorphisms in blood samples and to correlate gene expression values with anthropometric characteristics.</p> </sec><sec> <title>Methods</title> <p>Blood from 140 Greek young volunteers was subjected to polymerase chain reaction–restricted fragment length polymorphism (PCR–RFLP), for the genomic region of Q223R polymorphism at codon 223 in the leptin receptor gene (<italic>LEPR</italic>) coding region. RNA extraction, cDNA synthesis and Quantitative Real-Time PCR was performed for assessing the expression of the leptin gene (<italic>LEP</italic>).</p> </sec><sec> <title>Results</title> <p>Leptin gene was identified in all tested specimens and the gene was expressed in 88.9% of all volunteers with BMI &lt; 25. In addition, it was observed that gene expression is affected by various external factors, such as Body Mass Index (BMI), eating behavior, gender and age. It was also shown that as for the Q223R polymorphism (A to G) allele G occurs with a frequency of 100% in men with BMI &gt; 30 and 75.9% in men and 88.9% in women with BMI 25–30. Volunteers with BMI 25–30 who were homozygous on the G allele were 50% and 77.8% in men and women respectively. All subjects with a BMI &gt; 30 were homozygous on the G allele at 100%.</p> </sec><sec> <title>Conclusions</title> <p>In this small-scale study, results have shown that the leptin gene expression correlates with BMI and that the allele G in Q223R polymorphism is linked to overweight individuals.</p> </sec></abstract>

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The objective of the present study was to identify the association of the TNF-α- 308G/A and leptin receptor (LEPR) Gln223Arg polymorphisms with the risk of development of type 2 diabetes mellitus (T2DM). Methods: A total of 160 volunteers were studied: 108 with T2DM and 52 participants as control, who served as the control group. Polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) for the genomic region of TNF-α- 308G/A and LEPR Gln223Arg were carried out. Results: The frequency of LEPR Gln223Arg genotypes in T2DM and control groups showed significant differences in the distribution of genotypes (p < 0.05). The frequency also of TNF-α- 308G/A genotypes in T2DM and control subjects showed significant differences in the distribution of genotypes (p < 0.05). Conclusion: Our results indicate that there are significant differences in the distribution of genotypes and alleles between the individuals with T2DM and control subjects (p < 0.05).