Lack of association between variations in the melanocortin 5 receptor gene and bipolar disorder |
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Authors: | Lohoff Falk W Berrettini Wade H |
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Affiliation: | Department of Psychiatry, Center for Neurobiology and Behavior, University of Pennsylvania School of Medicine, Philadelphia, 19104-6140, USA. lohoff@mail.med.upenn.edu |
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Abstract: | OBJECTIVE: The melanocortin 5 receptor gene maps to the bipolar susceptibility locus on chromosome 18p11.2. Given the biological role of melanocortins and their influence on the hypothalamic-pituitary-adrenal axis, the melanocortin 5 receptor gene is a plausible candidate gene for bipolar disorder. We tested the hypothesis that the potential functional variation Phe209Leu confers susceptibility to bipolar disorder in a case-control study. METHODS: Genotypes for two variations in the coding region and one variation approximately 7 kb upstream from the coding region were obtained from 345 unrelated bipolar I patients and 275 control samples. Genotypes and allele frequencies were compared between groups using chi(2) contingency analysis. RESULTS: Allele frequencies of the Phe209Leu polymorphism did not differ significantly between bipolar patients and controls (P=0.679). Allele frequencies of the C744T and the intergenic A/G polymorphism did not differ significantly between bipolar patients and controls. All variations were in strong linkage disequilibrium. CONCLUSION: Variations in the melanocortin 5 receptor gene are unlikely to confer susceptibility to bipolar disorder in this sample. Further studies are required to elucidate the susceptibility locus for bipolar disorder on chromosome 18p11. |
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