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Table 4 Clinical characteristics of patients carrying rare variants in LPL, LMF1, APOA5, APOE and GPIHBP1 genes

From: Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain

Gene Nucleotide change Predicted aminoacid change Age (years) Sex BMI (kg/m2) TC, mg/dL TG mg/dL APOE Genotype
LPL c.1018 + 1G > A   74 F 26.3 247 505 ε2/ε3
59 M 29.7 374 1736 ε3/ε4
LMF1 c.205C > T p. (Leu69Leu) 65 M 24.2 257 654 ε3/ε4
c.1685C > G p.(Pro562Arg) 28 M 26.85 286 932 ε2/ε3
APOE c.460C > A p.(Arg154Ser) 47 M 24.45 354 572 ε3/ε3
64 M 29.1 287 586 ε3/ε3
APOA5 c.289C > T p.(Gln97*) 53 M 23.9 252 1215 ε2/ε3
c.518T > C p.(Leu173Pro) 43 M 28.9 269 1410 ε3/ε4
GPIHBP1 c.226C > T p.(Arg76Cys) 57 M 29.8 251 781 ε2/ε3
  1. BMI Body Mass Index, TC Total Cholesterol, TG Triglycerides, F female, M male