Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: First evidence of polar overdominance in humans

Anne Kathrin Wermter, André Scherag, David Meyre, Kathrin Reichwald, Emmanuelle Durand, Thuy Trang Nguyen, Kerstin Koberwitz, Peter Lichtner, Thomas Meitinger, Helmut Schäfer, Anke Hinney, Philippe Froguel, Johannes Hebebrand, Günter Brönner

Research output: Contribution to journalArticlepeer-review

37 Scopus citations

Abstract

DLK1 is part of the Notch signalling pathway that controls various developmental processes. A functional role for DLK1 in adipogenesis is suggested by several animal models. Interestingly, the DLK1 gene is imprinted in eutherian mammals. To study whether variations in DLK1 affect body weight in humans, we analysed 32 polymorphisms in a 109kb genomic region encompassing DLK1 on human chromosome 14. In a study sample of 1025 French and German trio families comprised of both parents and extremely obese offspring we found a single nucleotide polymorphism (rs1802710) associated with child and adolescent obesity. Analysis of the allelic transmission pattern indicated the existence of polar overdominance, an unusual mode of non-mendelian inheritance in humans previously known from the callipyge mutation in sheep.

Original languageEnglish
Pages (from-to)1126-1134
Number of pages9
JournalEuropean Journal of Human Genetics
Volume16
Issue number9
DOIs
StatePublished - 2008

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