ABCMdb

ABCB4 p.Gly622Glu

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Publications

PMID: 25807286 [PubMed] Gudbjartsson DF et al: "Large-scale whole-genome sequencing of the Icelandic population."

No. Sentence Comment

224 ABCB4 and liver diseases and function Our GWAS of gallstone disease (n = 8,258) led us to a missense SNP, encoding p.Gly622Glu, and a frameshift insertion, encoding p.Leu445Glyfs*22, in ABCB4 (Supplementary Table 12). Login to comment
225 ABCB4 and liver diseases and function Our GWAS of gallstone disease (n = 8,258) led us to a missense SNP, encoding p.Gly622Glu, and a frameshift insertion, encoding p.Leu445Glyfs*22, in ABCB4 (Supplementary Table 12). Login to comment

PMID: 26410236 [PubMed] Lammert F et al: "A letter on ABCB4 from Iceland: On the highway to liver disease."

No. Sentence Comment

27 The two ABCB4 mutations that were significantly associated with gallstones at the genome-wide level are the missense SNP p.Gly622Glu and the frameshift insertion p.Leu445GlyfsX22, which conferred odds ratios (OR) for gallstones of 2.74 and 3.10, respectively [3]. Login to comment
37 In total, Gudbjartsson et al. [3] identified four ABCB4 variants (p.Gly622Glu, p.Leu445GlyfsX22, p.Asn510Ser, c.711A > T) to be associated with these liver-specific traits (Table 1). Login to comment
44 n p.G622E p.L445GfsX22 p.N510S c.711A > T MAF 0.22% 0.21% 0.16% 20.54% P /OR P /OR P /OR P /OR ALT 143.693 3.0 &#d7; 10-18 0.46 2.2 &#d7; 10-11 0.35 0.004 0.18 5.7 &#d7; 10-10 -0.04 AST 144.255 2.0 &#d7; 10-10 0.28 6.8 &#d7; 10-8 0.24 0.02 0.12 0.0006 -0.02 AP 125.496 0.0004 0.17 ॹ-GT 138.195 6.5 &#d7; 10-19 0.30 0.001 0.17 1.5 &#d7; 10-5 -0.03 Gallstones 8258 7.2 &#d7; 10-10 2.74 2.6 &#d7; 10-12 3.10 0.004 1.84 0.0002 0.91 Gallstones < 40 years 2023 1.8 &#d7; 10-9 4.97 4.0 &#d7; 10-10 5.43 0.001 0.84 ICP 688 5.0 &#d7; 10-6 7.29 3.2 &#d7; 10-5 6.35 0.002 5.10 HCC/CCA 565 0.04 3.07 0.002 4.75 Cirrhosis 263 0.007 5.52 Data from Supplementary Table 13 in [3]. Login to comment