Table 3.
Subject Characteristics in the Pima Cohort
| LOF (n=43) | LOF-C (n=65) | LOF vs. LOF-C P value | GOF (n=20) | GOF-C (n=20) | GOF vs. GOF-C P value | LOF vs.GOF P value | |
|---|---|---|---|---|---|---|---|
| Age (y)a | 15.6 ± 7.1 | 15.2 ± 5.7 | 0.73 | 16.5 ± 7.1 | 16.7 ± 7.3 | 0.92 | 0.65 |
| Sex (% female)b | 46.5 | 46.2 | 0.97 | 60.0 | 60.0 | 1.00 | 0.42 |
| Indian heritage (%)a,c | 95 ± 13 | 92 ± 18 | 0.31 | 66 ± 20 | 83 ± 23 | 0.02 | <0.001 |
| BMI (kg/m2)a | 31.4 ± 7.1 | 30.7 ± 6.6 | 0.61 | 26.1 ± 7.8 | 26.2 ± 7.9 | 0.96 | 0.009 |
| BMI-Za | 1.91 ± 0.83 | 1.85 ± 0.89 | 0.69 | 0.97 ± 1.16 | 0.96 ± 1.19 | 0.97 | 0.003 |
| Sample storage (y)a | 25.3 ± 8.9 | 24.1 ± 7.9 | 0.48 | 16.2 ± 9.0 | 16.4 ± 8.8 | 0.95 | <0.001 |
| Serum leptin (ng/mL)d | 22.7 [6.4–39.8] | 16.4 [7.7–32.5] | 0.51 | 10.3 [1.2–20.6] | 10.8 [3.6–28.6] | 0.48 | 0.02 |
| Serum BDNF (ng/mL)d | 23.3 [19.1–28.1] | 21.9 [17.9–25.0] | 0.12 | 25.0 [19.1–26.0] | 19.0 [15.3–23.2] | 0.06 | 0.99 |
Abbreviations: BMI, body mass index; BMI-Z, standard deviation score for BMI by age and sex,32 BDNF, brain-derived neurotrophic factor; LOF, subjects with loss-of-function MC4R variant; GOF, subjects with gain-of-function MC4R; LOF-C and GOF-C, control subjects with common MC4R matched with LOF and GOF subjects, respectively, by age, sex, BMI, and storage time of serum sample; SD, standard deviation.
Mean ± SD shown. Independent samples t tests compared groups.
Fisher’s exact tests compared percentages between groups.
Percent Indian heritage calculated based on self-reported ethnicities of great-grandparents.
Median [interquartile range: 25th to 75th percentile] shown because non-normal distribution. Nonparametric U tests compared groups.