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Springer Nature [academic journals on nature.com], European Journal of Human Genetics, 11(10), p. 749-752, 2002

DOI: 10.1038/sj.ejhg.5200873

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Null mutation in human ciliary neurotrophic factor gene confers higher body mass index in males

This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Ciliary neurotrophic factor (CNTF) administration reduces weight in leptin-resistant mice via the signalling pathway normally activated by leptin. A G>A null mutation in the CNTF gene results in complete absence of protein. We hypothesised that absence of CNTF could lead to diminished initiation of anorectic pathways, with consequent increase in body mass. In 575 Caucasian men aged 59-73 years, the A/A genotype (frequency 1.9%) was associated with a 10 kg increase in weight (P=0.03, 2 df) and 3 kg/m(2) greater BMI (P=0.02, 2 df). There was no effect in women. The CNTF G>A null mutation therefore confers a moderate effect on obesity in males of A/A genotype, who represent 1% of the general population.