ABCMdb

PMID: 19408031

Acalovschi M, Tirziu S, Chiorean E, Krawczyk M, Grunhage F, Lammert F
Common variants of ABCB4 and ABCB11 and plasma lipid levels: a study in sib pairs with gallstones, and controls.
Lipids. 2009 Jun;44(6):521-6. Epub 2009 Apr 30., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCB4 p.Arg652Gly Using PCR-based assays with 50 -nuclease and fluorescence detection (TaqMan), the ABCB11 coding SNP p.A444V and four haplotype-tagging SNPs covering the ABCB4 gene (c.504C [ T, c.711T [ A, p.R652G, rs31653 in intron 26) were genotyped. Login to comment 31 ABCB4 p.Arg652Gly Employing PCR-based assays with 50 -nuclease and fluorescence detection (TaqMan), the following SNPs were genotyped: the ABCB11 coding SNP p.A444V (rs2287622), which is known to affect transporter expression (rsXX), and four haplotype-tagging SNPs covering the ABCB4 gene (c.504C [ T - rs1202283; c.711T [ A - rs2109505; p.R652G - rs8187799; rs31653 in intron 26), which were identified in our previous study [13]. Login to comment 61 ABCB4 p.Arg652Gly patients Age (years) BMI (kg/m2 ) Triglycerides (mg/dl) Cholesterol (mg/dl) HDL cholesterol (mg/dl) ABCB11 p.A444 V rs2287622 Common 28 55.14 ± 12.45 27.82 ± 4.54 198.03 ± 118.71* 228.96 ± 56.5 52.13 ± 17.74 Rare 80 54.28 ± 10.8 29.36 ± 5.39 162.53 ± 85.86 207.78 ± 44.44 48.61 ± 14.8 ABCB4 c.504C [ T rs1202283 Common 34 56.26 ± 10.14 29.86 ± 5.85 204.67 ± 122.54* 230.55 ± 48.56§ 51.17 ± 15.86 Rare 74 54.0 ± 11.53 28.94 ± 5.36 159.02 ± 77.04 204.42 ± 46.44 48.36 ± 15.02 ABCB4 c.711T [ A rs2109505 Common 75 53.77 ± 10.24 29.06 ± 5.56 173.77 ± 97.35 213.36 ± 49.01 49.23 ± 14.56 Rare 33 56.9 ± 13.22 28.7 ± 4.37 170.87 ± 92.49 214.21 ± 48.78 49.5 ± 16.75 ABCB4 p.R652G rs8187799 Common 83 54.36 ± 11.97 29.45 ± 5.27 181.31 ± 102.99 213.55 ± 48.34 49.39 ± 14.52 Rare 21 55.95 ± 7.61 28.86 ± 5.7 159.61 ± 64.21 209.38 ± 54.05 46.31 ± 16.16 ABCB4 rs31653 Common 89 54.5 ± 11.03 29.12 ± 5.4 172.95 ± 96.19 210.61 ± 48.64 48.77 ± 15.75* Rare 19 55.0 ± 12.18 27.66 ± 4.2 170.94 ± 94.85 230.78 ± 46.74 54.53 ± 13.07 Values given in bold are significantly different from controls-carriers of the same allele (Table 4) * Significantly different than in carriers of the rare allele Table 4 Age, BMI, and plasma lipid levels of 260 controls in relation to the common and rare (homozygous and heterozygous carriers) alleles of the ABCB4 and ABCB11 polymorphisms Allele No. Login to comment 62 ABCB4 p.Arg652Gly controls Age (years) BMI (kg/m2 ) Triglycerides (mg/dl) Cholesterol (mg/dl) HDL cholesterol (mg/dl) ABCB11 p.A444 V rs2287622 Common 79 53.99 ± 10.55 26.28 ± 4.11 128.11 ± 59.43 228.4 ± 37.15 57.11 ± 15.11 Rare* 181 52.76 ± 11.18 25.78 ± 5.04 140.33 ± 91.75 229.21 ± 53.62 55.01 ± 13.41 ABCB4 c.504C [ T rs1202283 Common 69 52.41 ± 10.25 26.26 ± 5.54 152.52 ± 108.06 231.01 ± 53.21 55.06 ± 13.26 Rare 191 53.15 ± 11.25 25.81 ± 4.46 130.92 ± 71.95 227.47 ± 47.69 55.84 ± 14.12 ABCB4 c.711T [ A rs2109505 Common 185 52.46 ± 9.87 26.32 ± 4.92 142.27 ± 92.03 233.89 ± 50.93* 56.34 ± 14.48 Rare 75 54.17 ± 13.32 24.98 ± 4.26 122.15 ± 53.0 214.45 ± 41.29 53.85 ± 12.42 ABCB4 p.R652G rs8187799 Common 192 52.37 ± 10.96 26.21 ± 4.62 142.06 ± 90.91 234.19 ± 51.2* 51.47 ± 14.22 Rare 68 54.58 ± 10.95 25.13 ± 5.13 121.25 ± 54.36 212.14 ± 39.65 56.09 ± 13.30 ABCB4 rs31653 Common 219 52.93 ± 10.70 25.43 ± 4.77 133.73 ± 84.53 228.92 ± 50.42 56.32 ± 14.21* Rare 38 52.79 ± 12.63 26.10 ± 4.81 148.08 ± 67.14 223.0 ± 40.30 51.61 ± 11.66 * Significantly different from carriers of the rare allele hydroxylase gene (CYP7A1) [17] or the gene encoding the CCK receptor A [18], no variants have been linked to cholesterol gallstones. Login to comment 65 ABCG8 p.Asp19His The polymorphism rs11887534 (p.D19H) of the ABCG8 gene, which encodes the hepatobiliary cholesterol hemitransporter, is the first identified susceptibility factor for gallstones in humans [22, 23]. Login to comment