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Eur J Hum Genet. 2002 Nov;10(11):749-52.

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

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Division of Human Genetics, University of Southampton School of Medicine, Duthie Building (MP 808), Southampton General Hospital, Tremona Road, Southampton S016 6YD, UK. S.D.O'


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.

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