Identification of New Sequence Variants in the Leptin Gene
The leptin gene (LEP) has been linked to extreme obesity. However, no common obesity-related gene variants have been found to exist in the LEP. The present study was designed to investigate the LEP for variants by screening both the putative promoter and the coding region of this gene in obese Finni...
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Veröffentlicht in: | The journal of clinical endocrinology and metabolism 1998-09, Vol.83 (9), p.3239-3242 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | The leptin gene (LEP) has been linked to extreme
obesity. However, no common obesity-related gene variants have been
found to exist in the LEP. The present study was
designed to investigate the LEP for variants by
screening both the putative promoter and the coding region of this gene
in obese Finnish subjects (n = 200; body mass index, >27
kg/m2). PCR-amplified DNA samples were subjected to single
strand conformation analysis. A G144A substitution in codon 48 and a
G328A substitution in codon 110 were identified in two obese subjects,
both of whom had very low serum leptin levels. A rare silent C538T
polymorphism was detected 33 bp downstream of the translation stop
codon (TGA). A common polymorphism A19G was identified in the
untranslated exon 1. This polymorphism was not associated with traits
of obesity; in agreement, the allele frequencies were similar between
64 normal weight and 141 obese Finns. In summary, this study failed to
find a common gene variant in the LEP associated with
obesity, but introduces 2 rare mutations associated with very low serum
leptin concentrations in 2 obese subjects. |
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ISSN: | 0021-972X 1945-7197 |
DOI: | 10.1210/jcem.83.9.5135 |