Table 2 All DNA variants and pathogenic mutations identified in the candidate genes of HLAP and BAP patients
From: The pathogenic mutations of APOA5 in Chinese patients with hyperlipidemic acute pancreatitis
Mutant gene | All DNA variantsa | Pathogenic mutationsb | ||
|---|---|---|---|---|
HLAP groupc | BAP group | HLAP group | BAP group | |
APOA5 | 97 (60%) | 13 (43%) | 52 (32%) | 1 (3%) |
PLA2G6 | 44 (27%) | 7 (23%) | 9 (6%) | 0 (0%) |
LIPC | 163 (100%) | 30 (100%) | 8 (5%) | 0 (0%) |
LRP1 | 163 (100%) | 30 (100%) | 13 (8%) | 1 (3%) |
LMF2 | 163 (100%) | 30 (100%) | 6 (4%) | 0 (0%) |
FGR | 7 (4%) | 1 (3%) | 5 (3%) | 0 (0%) |
CETP | 111 (68%) | 25 (83%) | 15 (9%) | 2 (7%) |
PLTP | 21 (13%) | 2 (7%) | 4 (2%) | 0 (0%) |
PINX1 | 12 (7%) | 4 (13%) | 4 (2%) | 0 (0%) |
FRMD5 | 104 (64%) | 14 (47%) | 3 (2%) | 0 (0%) |
GCKR | 84 (52%) | 16 (53%) | 3 (2%) | 0 (0%) |
IRS1 | 102 (63%) | 17 (57%) | 2 (1%) | 0 (0%) |
HAVCR1 | 144 (88%) | 29 (97%) | 2 (1%) | 0 (0%) |
SORL1 | 163 (100%) | 30 (100%) | 7 (4%) | 1 (3%) |
PPARG | 83 (51%) | 8 (27%) | 1 (1%) | 0 (0%) |
APOBEC1 | 141 (87%) | 25 (83%) | 1 (1%) | 0 (0%) |
PPARD | 151 (93%) | 27 (90%) | 1 (1%) | 0 (0%) |
TRIB1 | 86 (53%) | 15 (50%) | 1 (1%) | 0 (0%) |
FADS2 | 1 (1%) | 0 (0%) | 1 (1%) | 0 (0%) |
FADS3 | 2 (1%) | 0 (0%) | 1 (1%) | 0 (0%) |
ANGPTL4 | 36 (22%) | 7 (23%) | 1 (1%) | 0 (0%) |
MLXIPL | 162 (99%) | 30 (100%) | 1 (1%) | 0 (0%) |
GALNT2 | 153 (94%) | 29 (97%) | 1 (1%) | 0 (0%) |
PPARA | 17 (10%) | 4 (13%) | 1 (1%) | 0 (0%) |
GPIHBP1 | 144 (88%) | 29 (97%) | 1 (1%) | 0 (0%) |
TIMD4 | 134 (82%) | 30 (100%) | 1 (1%) | 0 (0%) |
USF1 | 1 (1%) | 0 (0%) | 0 (0%) | 0 (0%) |
APOC2 | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) |
MSL2L1 | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) |
MTP | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) |
ZNF664 | 3 (2%) | 1 (3%) | 0 (0%) | 0 (0%) |
FADS1 | 2 (1%) | 1 (3%) | 0 (0%) | 0 (0%) |
CYP26A1 | 1 (1%) | 1 (3%) | 0 (0%) | 0 (0%) |
CILP2 | 18 (11%) | 5 (17%) | 0 (0%) | 0 (0%) |
APOC3 | 83 (51%) | 23 (77%) | 0 (0%) | 0 (0%) |
CAPN3 | 43 (26%) | 6 (20%) | 5 (3%) | 1 (3%) |
NCAN | 92 (56%) | 16 (53%) | 1 (1%) | 1 (3%) |
ANGPTL3 | 9 (6%) | 1 (3%) | 1 (1%) | 1 (3%) |
XKR6 | 5 (3%) | 1 (3%) | 1 (1%) | 1 (3%) |
LDLR | 155 (95%) | 29 (97%) | 1 (1%) | 1 (3%) |
LDLRAP1 | 110 (67%) | 20 (67%) | 0 (0%) | 1 (3%) |
CTF1 | 2 (1%) | 2 (7%) | 0 (0%) | 1 (3%) |
LPL | 22 (14%) | 6 (20%) | 16 (10%) | 4 (13%) |
TYW1B | 122 (75%) | 25 (83%) | 56 (34%) | 12 (40%) |
KLHL8 | 3 (2%) | 1 (3%) | 1 (1%) | 2 (7%) |
PEPD | 133 (82%) | 24 (80%) | 28 (17%) | 7 (23%) |
APOE | 90 (55%) | 20 (67%) | 22 (14%) | 6 (20%) |
MAP3K1 | 153 (94%) | 25 (83%) | 5 (3%) | 3 (10%) |
NAT2 | 134 (82%) | 30 (100%) | 9 (6%) | 4 (13%) |
LMF1 | 141 (87%) | 25 (83%) | 10 (6%) | 5 (17%) |
COBLL1 | 52 (32%) | 15 (50%) | 17 (10%) | 7 (23%) |
JMJD1C | 151 (93%) | 30 (100%) | 21 (13%) | 9 (30%) |
APOB | 144 (88%) | 30 (100%) | 111 (68%) | 30 (100%) |