ABCMdb

PMID: 25286446

Kelishadi R, Haghjooy Javanmard S, Tajadini MH, Mansourian M, Motlagh ME, Ardalan G, Ban M
Genetic association with low concentrations of high density lipoprotein-cholesterol in a pediatric population of the Middle East and North Africa: the CASPIAN-III study.
Atherosclerosis. 2014 Nov;237(1):273-8. doi: 10.1016/j.atherosclerosis.2014.08.043. Epub 2014 Sep 23., [PubMed]

Sentences

No. Mutations Sentence Comment

99 ABCA1 p.Val771Met Gene name, polymorphism name and identification number (genotypes and frequencies), minor allele frequency HDL-C < 5th percentile (n &#bc; 250) HDL-C 5e95th percentile (n &#bc; 250) HDL-C > 95th percentile (n &#bc; 250) LPL D9N rs1801177 (AA/AG/GG) 226/24/0 231/19/0 250/0/0 MAF 0.048 0.038 0 LPL HindIII rs320 (GG/GT/TT) 145/102/3 117/120/13 4/121/125 MAF 0.216 0.292 0.742 LPL S447X rs328 (CC/CG/GG) 228/22/0 203/46/1 163/73/14 MAF 0.044 0.096 0.202 ABCAI V771M rs2066718 (GG/GA/AA) 249/1/0 237/13/0 234/16/0 MAF 0.002 0.026 0.032 ABCAI R1587K rs2230808 (AA/AG/GG) 106/106/38 141/93/16 194/56/0 MAF 0.364 0.250 0.112 CETP TaqIB rs708272 (CC/CT/TT) 181/67/2 63/147/40 34/162/54 MAF 0.142 0.454 0.540 CETP A373P rs5880 (CC/CG/GG) 188/58/4 217/33/0 247/3/0 MAF 0.132 0.066 0.006 APOC3 SstI rs5128 (CC/CG/GG) 208/40/2 209/39/2 211/39/0 MAF 0.088 0.086 0.078 APOA1 MspI rs2893157 (GG/GA/AA) 189/59/0 182/63/5 169/73/8 MAF 0.119 0.146 0.178 APOA5 C-1131T rs662799 (CC/CT/TT) 242/3/5 245/2/3 250/0/0 MAF 0.026 0.016 0 MAF, minor allele frequency; HDL-C, high density lipoprotein cholesterol; LPL, gene encoding lipoprotein lipase; ABCA1, gene encoding ATP binding cassette transporter A1; CETP, gene encoding cholesteryl ester transfer protein; APOC3 gene encoding apo C-III; APOA1, gene encoding apolipoprotein (apo) A-I; APOA5, gene encoding apo A-V. Login to comment 121 ABCA1 p.Arg219Lys A study in Iranian adults showed that R219K SNP could affect HDL-C levels and could influence the risk of atherosclerosis in Iranian population [46]. Login to comment 122 ABCA1 p.Val771Met Another study found that the V771M SNP was associated with higher HDL levels in Turkmen [47]. Login to comment 123 ABCA1 p.Arg219Lys ABCA1 p.Arg219Lys In a meta-analysis with 6597 cases and 15,369 controls for investigation of the association between the ABCA1 R219K polymorphism and ACVD risk; the R219K SNP was associated with a higher HDL-C level in Asians and protective for ACVD risk both in Asians and Caucasians. Login to comment 124 ABCA1 p.Arg219Lys A recent meta-analysis involving 2730 ACVD patients and 2658 controls showed that K allele of the ABCA1 R219K gene has a protective role for ACVD risk in the Chinese population [48]. Login to comment 125 ABCA1 p.Val771Met A study among Japanese healthy children, documented significant associations of the ABCA1 K219R and V771M polymorphisms with HDL-C concentrations, and suggested that these alleles have antiatherogenic effects [49]. Login to comment 132 ABCA1 p.Val771Met SNP (rs number) Unadjusted Adjusteda Or 95% CI for OR P-value Or 95% CI for OR P-value APOA1 Msp1 1.87 (1.55, 2.21) <0.0001 1.01 (0.67, 1.49) 0.98 ABCA1 r1587K 3.16 (2.54, 3.93) <0.0001 2.43 (1.68, 3.50) <0.0001 ABCA1 V771M 1.89 (1.62, 2.21) <0.0001 0.47 (0.19, 1.52) 0.09 CETP Taq1 0.54 (0.42, 0.67) <0.0001 0.08 (0.05, 0.13) <0.0001 CETP A373P 2.46 (2.08, 2.92) <0.0001 5.79 (3.40, 9.84) <0.0001 APOC3 Sst1 2.02 (1.71, 2.38) <0.0001 1.08 (0.68, 1.72) 0.73 HDL-C, high density lipoprotein cholesterol; SNP, single nucleotide polymorphism; OR, Odds ratio. Login to comment 135 ABCA1 p.Val771Met HDL-C < 5th percentile HDL-C 5e95th percentile LPL D9N rs1801177 HDL-C 5e95th percentile NS (0.44) HDL-C>95th percentile <0.0001 <0.0001 LPL HindIII rs320 HDL-C 5e95th percentile 0.0058 HDL-C > 95th percentile <0.0001 <0.0001 LPL S447X rs328 HDL-C 5e95th percentile 0.0013 HDL-C > 95th percentile <0.0001 <0.0001 ABCAI V771M rs2066718 HDL-C 5e95th percentile 0.0012 HDL-C > 95th percentile 0.0002 NS (0.57) ABCAI R1587K rs2230808 HDL-C 5e95th percentile <0.0001 HDL-C > 95th percentile <0.0001 <0.0001 CETP TaqIB rs708272 HDL-C 5e95th percentile <0.0001 HDL-C > 95th percentile <0.0001 0.0065 CETP A373P rs5880 HDL-C 5e95th percentile 0.0005 HDL-C > 95th percentile <0.0001 <0.0001 APOC3 SstI rs5128 HDL-C 5e95th percentile NS (0.91) HDL-C > 95th percentile NS (0.57) NS (0.64) APOA1 MspI rs2893157 HDL-C 5e95th percentile NS (0.36) HDL-C > 95th percentile 0.022 NS (0.17) APOA5 C-1131T rs662799 HDL-C 5e95th percentile NS (0.27) HDL-C > 95th percentile 0.0003 0.0045 HDL-C, high density lipoprotein cholesterol; LPL, gene encoding lipoprotein lipase; ABCA1, gene encoding ATP binding cassette transporter A1; CETP, gene encoding cholesteryl ester transfer protein; APOC3 gene encoding apo C-III; APOA1, gene encoding apolipoprotein (apo) A-I; APOA5, gene encoding apo A-V; NS, not significant. Login to comment