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

O'Dell, Sandra D., Syddall, Holly E., Sayer, Avan Aihie, Cooper, Cyrus, Fall, Caroline H.D., Dennison, Elaine M., Phillips, David I.W., Gaunt, Tom R., Briggs, Patricia J. and Day, Ian N.M. (2002) Null mutation in human ciliary neurotrophic factor gene confers higher body mass index in males. European Journal of Human Genetics, 10 (11), 749-752. (doi:10.1038/sj.ejhg.5200873).

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/m2 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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Contributors

Author: Holly E. Syddall

Author: Cyrus Cooper

Author: Caroline H.D. Fall

Author: Elaine M. Dennison

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