A Ser311Cys Mutation in the Human Dopamine Receptor D2 Gene Is Associated With Reduced Energy Expenditure

Brief Genetics Report

¹Clinical Diabetes and Nutrition Section, National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases, Phoenix, Arizona
²University of Texas Health Science Center at San Antonio, San Antonio, Texas

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FIG. 1.
Energy expenditure and SPA in nondiabetic Pima Indians with Ser311- or Cys311-encoding DRD2 alleles. TEE (A) was measured by doubly labeled water in 89 individuals (58 Ser/Ser, 25 Ser/Cys, and 6 Cys/Cys) and was adjusted for age, sex, and body composition. The 24-h EE (B) and SMR (C) were measured using a respiratory chamber in 320 individuals (217 Ser/Ser, 87 Ser/Cys, and 16 Cys/Cys) and were adjusted for age, sex, and body composition. The means ± SE are given for subjects homozygous for the Ser311 allele (▪), heterozygous for the Ser311Cys alleles ([cjs2108]), and homozygous for the Cys³¹¹ allele (□). Levels of significance refer to comparisons between Cys³¹¹ homozygous subjects and subjects homozygous or heterozygous for the Ser³¹¹ allele.

TABLE 1

Physical characteristics of 89 nondiabetic Pima Indians with Ser311- or Cys311-encoding DRD2 alleles in whom we measured TEE

Data are n or means ± SD. Sex distribution across genotypes (χ² = 2.18, P = 0.33, df = 2).
*
* After adjustment for age and sex, Cys311 homozygotes were taller than the two other genotypes combined (P = 0.012). Body weight and percent body fat did not differ between genotypes, after adjusting for sex and age.

TABLE 2

Physical characteristics of 320 nondiabetic Pima Indians with Ser311- or Cys311-encoding DRD2 alleles in whom we measured resting energy expenditure

Data are n or means ± SD. Sex distribution across genotypes (χ² = 8.37, P = 0.01, df = 2). Height, body weight, and percent body fat did not differ between genotypes, after adjusting for sex and age.