RGD Reference Report - A 5-HT2C receptor promoter polymorphism (HTR2C - 759C/T) is associated with obesity in women, and with resistance to weight loss in heterozygotes.

General

A 5-HT2C receptor promoter polymorphism (HTR2C - 759C/T) is associated with obesity in women, and with resistance to weight loss in heterozygotes.
Authors:	Pooley, EC Fairburn, CG Cooper, Z Sodhi, MS Cowen, PJ Harrison, PJ
Citation:	Pooley EC, etal., Am J Med Genet B Neuropsychiatr Genet. 2004 Apr 1;126(1):124-7.
RGD ID:	1624991
Pubmed:	PMID:15048662 (View Abstract at PubMed)
DOI:	DOI:10.1002/ajmg.b.20143 (Journal Full-text)
The serotonin 5-HT(2C) receptor (HTR2C) helps regulate appetite and body weight. An HTR2C promoter polymorphism (-759C/T) has been associated with obesity and with weight gain in response to antipsychotic (neuroleptic) drugs. We studied this polymorphism in 120 obese women (BMI > or = 30) and 104 non-obese (BMI < or = 25) women. The C allele was commoner in the obese group (OR = 1.72 [95% CI, 1.13-2.64], P = 0.008). Ninety-five of the obese women participated in a randomized trial of psychological treatments for weight loss. Among these women, heterozygotes lost less weight during the trial than did homozygotes (6.8 vs. 9.7 kg; P = 0.047) and weighed more 6 months (90.1 vs. 83.6 kg; P = 0.006) and 12 months (91.8 vs. 84.6 kg; P = 0.009) later. Heterozygotes also had higher triglyceride levels than homozygotes. C/C subjects in the obesity trial did not differ from T/T subjects in terms of weight loss or triglycerides. In a separate RT-PCR study of 43 subjects, we found that HTR2C mRNA abundance in frontal cortex was unaffected by -759C/T status. Our data extend the evidence that HTR2C promoter variation may be a risk factor for obesity and, perhaps through heterosis, influences weight loss by obese women. Pharmacogenetic testing of HTR2C promoter variants may be valuable when evaluating anti-obesity drugs which act directly or indirectly on the receptor.

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Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
obesity	susceptibility	IAGP		1624991	DNA:polymorphism:promoter:-759C>T	RGD
obesity	susceptibility	ISO	HTR2C (Homo sapiens)	1624991; 1624991	DNA:polymorphism:promoter:-759C>T	RGD

Objects Annotated

Genes (Rattus norvegicus)

Htr2c (5-hydroxytryptamine receptor 2C)

Genes (Mus musculus)

Htr2c (5-hydroxytryptamine (serotonin) receptor 2C)

Genes (Homo sapiens)

HTR2C (5-hydroxytryptamine receptor 2C)

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A 5-HT2C receptor promoter polymorphism (HTR2C - 759C/T) is associated with obesity in women, and with resistance to weight loss in heterozygotes.