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Functional analysis of the C(-188)A polymorphism of the human leptin promoter
L Oksanen1, J J Palvimo, O A Jänne
1Department of Medicine, Institute of Biomedicine, University of Helsinki, Finland.
Abstract:
Mutational analysis of the promoter region of the leptin gene in morbidly obese Finnish subjects had revealed a previously unidentified C(-188)A polymorphism in the proximal promoter that showed a weak association with elevated serum leptin levels in obese male carriers of the variant (-188A) allele. In this study we demonstrated that neither expression of reporter gene constructs driven by wild-type (-188C) or variant (-188A) proximal promoter regions, nor assay of binding of cellular proteins reveal a genotype-related difference in promoter activity.
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