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Endocrine Abstracts (2018) 56 P589 | DOI: 10.1530/endoabs.56.P589

ECE2018 Poster Presentations: Diabetes, Obesity and Metabolism Obesity (78 abstracts)

Association between Leptin gene polymorphisms and plasma leptin level in three consanguineous families with obesity

Mouna Fourati 1 , Faten Hadjkacem 1 , Dorra Ghorbel 1 , Houcem Elomma Mrabet 1 , Salwa Sessi 2 , Faiza Fakhfakh 3 & Mohamed Abid 1


1Unit of Obesity and Metabolic Syndrome, Department of Endocrinology, Hedi Chaker Hospital, Sfax, Tunisia; 2Regional Hospital Kerkenah, Sfax, Tunisia; 3Department of Life Sciences, Faculty of Science of Sfax, Sfax, Tunisia.

Leptin (LEP) gene is one of the most promising candidate genes for obesity. The aim of this study was to investigate the impact of LEP polymorphisms on obesity, anthropometric and biochemical parameters in a sample of three Tunisian consanguineous families with obesity. Seven single nucleotide polymorphisms (SNPs) in 5′ region of LEP gene were genotyped in three consanguineous families including 33 individuals. The previously reported LEP SNPs (H1328084, H1328082, rs10487506, H1328081, H1328080, G-2548A and A19G) were evaluated by PCR-RFLP and direct sequencing methods. Single SNP association and haplotype association analyses were performed using the family-based association test (FBAT). To determine allele frequencies of these SNPs in general population, 52 unrelated individuals from the general Tunisian population were also analyzed. Our results showed that H1328084 and A19G SNPs were associated with plasma leptin level (H1328084: A > G, Z=2.058, P=0.039; A19G: G >A, Z=2.058, P=0.039). When haplotypes were constructed with these two markers, the risk AA haplotype (frequency 57.1%) was positively associated with plasma leptin level (Z=2.058, P=0.039). Moreover, SNPs H1328084 and A19G are predicted to modify transcription-factor binding sites. In conclusion, our study provided that two functional variants in 5′ regulatory region of LEP gene are associated with plasma leptin level as a quantitative trait. It suggested that H1328084 and A19G have an important role in regulating plasma leptin level.

Volume 56

20th European Congress of Endocrinology

Barcelona, Spain
19 May 2018 - 22 May 2018

European Society of Endocrinology 

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