Association Between Nuclear Lamin A/C R482Q Mutation and Partial Lipodystrophy with Hyperinsulinemia, Dyslipidemia, Hypertension, and Diabetes

Table 1.

Plasma Lipoproteins and Related Biochemical Variables in Nondiabetic FPLD Family Members According to LMNA R482Q Genotype

Q482/R482 R482/R482
with diabetes without diabetes
Number/females 7/6 15/10 25/15
Definite FPLD (%) 100 66.7 0.0
Age (years) 49.1 ± 10.0 33.8 ± 15.4 39.3 ± 15.4
BMI (kg/m2) 25.2 ± 3.5 26.4 ± 4.6 26.7 ± 5.4
Cholesterol (mmoles/liter)
 total 5.90 ± 1.67 5.34 ± 0.75 5.24 ± 1.17
 LDL 2.92 ± 0.31 3.54 ± 0.68 3.55 ± 1.13
 HDL 0.75 ± 0.20 1.07 ± 0.20 1.32 ± 0.32
Triglycerides (mmoles/liter) 6.65 ± 5.55 2.19 ± 1.44 1.20 ± 0.60
Insulin (U/liter) 20.8 ± 9.3 19.2 ± 13.1 10.0 ± 13.1
C-peptide (pmoles/liter) 1219 ± 262 977 ± 439 610 ± 414
Glucose (mmoles/liter) 8.73 ± 3.00 4.94 ± 0.78 4.72 ± 0.47
Hemoglobin A1C (%) 7.74 ± 1.25 5.68 ± 0.35 5.70 ± 0.44
Medication use
 diabetes (%)  57.1  0.0 0.0
 hypertension (%)  42.9  6.7 8.0
 dyslipidemia (%)  14.3  6.7 4.0

This Article

  1. Genome Res. 10: 652-658

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