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