ABCMdb

ABCG5 p.Arg50Cys

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Publications

PMID: 21175590 [PubMed] Kerr ID et al: "The ABCG family of membrane-associated transporters: you don't have to be big to be mighty."

No. Sentence Comment

150 The former identified a single locus effect of SNP rs4245791 (in intron 3 of the ABCG8) on total cholesterol levels, whilst the latter identified rs6756629 (resulting in an Arg50Cys change in ABCG5) as being associated with both raised total and LDL‐cholesterol. Login to comment
182 The former identified a single locus effect of SNP rs4245791 (in intron 3 of the ABCG8) on total cholesterol levels, while the latter identified rs6756629 (resulting in an Arg50Cys change in ABCG5) as being associated with both raised total and low density lipoprotein-cholesterol. Login to comment

PMID: 11435688 [PubMed] Shulenin S et al: "An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus."

No. Sentence Comment

52 The only variants detected were the Q609E polymorphism and an arginine to cystine change in codon 50 (R50C). Login to comment
53 The R50C variant was seen in the father of an affected individual and alters a residue that is con- Fig. 1. Login to comment

PMID: 16029460 [PubMed] Rees DC et al: "Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia."

No. Sentence Comment

175 Polymorphisms (R50C and Q604E in ABCG5, C54Y in ABCG8) are shown in italics. Login to comment
176 In a survey of normal donors, we found that the R50C substitution in ABCG5 was present in three of 60 individuals (three of 120 chromosomes) while IVS11+3insT was present in none. Login to comment

PMID: 16507104 [PubMed] Pandit B et al: "A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans."

No. Sentence Comment

64 Only two loci in ABCG5, R50C and Q604E showed variations in our study population, the remaining 4 SNPs were invariant in all subjects and are not depicted in the haplotype analyses. Login to comment
177 SNP Allele Number of Disease Chromosomes* Number of Healthy Chromosomes* Frequency (disease chromosome) Frequency (healthy chromosome) Recombination Fraction Age Estimate (generations) R50C C 12 12 1 1 NA Q604E G 2 1 0.167 0.083 0.058833 17.7 5'UTR-19 T 11 10 0.917 0.833 0.033059 9.1 D19H G 12 12 1 1 NA NA INT1-21 C 12 7 1 0.583 0.005 0 INT1-7 C 11 11 0.917 0.917 NA C54Y A 9 5 0.75 0.417 0.02749 8.8 E238L G 12 12 1 1 NA T400K A 10 3 0.833 0.25 0.0002 2387 INT10-50 T 12 12 1 1 NA A565A C 12 12 1 1 NA G575R G 12 12 1 1 NA A632V C 11 10 0.917 0.833 0.005692 52.9 *Out of a total of 12 disease and 12 normal chromosomes, see Methods and ABCG8 are proposed to function as obligate heterodimers [54], and complete mutations in either gene seems to result in an identical phenotype [8], these genetic findings posit an enigma. Login to comment

PMID: 21157969 [PubMed] Dikkers A et al: "Biliary cholesterol secretion: more than a simple ABC."

No. Sentence Comment

127 With relevance to gallstone disease, recently specific mutations in ABCG5/G8, namely ABCG5 R50C and ABCG8 D19H, have been identified in humans and shown to increase the risk for cholesterol gallstone disease[81-83] . Login to comment

PMID: 22898925 [PubMed] von Kampen O et al: "Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus."

No. Sentence Comment

68 SNP rs6756629 (ABCG5-R50C) yielded the second most significant association (p=4.9×10-9 ) of all previously known, non-synonymous variants in ABCG5/8. Login to comment
121 After extensive genotyping, only two candidate variants remained: ABCG5-R50C and ABCG8-D19H, both with similar allelic odds ratios (Supplementary Table 1, Table 2). Login to comment

PMID: 22655090 [PubMed] Li Q et al: "ATP-binding cassette transporter G5 and G8 polymorphisms and several environmental factors with serum lipid levels."

No. Sentence Comment

199 The minor T allele of rs6756629 (R50C, C.T) in ABCG5 was reported to be associated with lower levels of TC (P = 1.5610211 ) and LDL-C (P = 2.6610210 ) compared to the major allele [15]. Login to comment
197 The minor T allele of rs6756629 (R50C, C.T) in ABCG5 was reported to be associated with lower levels of TC (P = 1.5610211 ) and LDL-C (P = 2.6610210 ) compared to the major allele [15]. Login to comment
198 The minor T allele of rs6756629 (R50C, C.T) in ABCG5 was reported to be associated with lower levels of TC (P = 1.5610211 ) and LDL-C (P = 2.6610210 ) compared to the major allele [15]. Login to comment

PMID: 19932478 [PubMed] Lu Y et al: "The potential influence of genetic variants in genes along bile acid and bile metabolic pathway on blood cholesterol levels in the population."

No. Sentence Comment

1789 The minor T allele of rs6756629 (R50C, C > T) in ABCG5 was reported to be associated with lower levels of total cholesterol (p = 1.5 × 10-11) and LDL cholesterol (p = 2.6 × 10-10) compared to the major allele [11]. Login to comment

PMID: 24657701 [PubMed] Stender S et al: "The ABCG5/8 cholesterol transporter and myocardial infarction versus gallstone disease."

No. Sentence Comment

56 ABCG5 R50C and ABCG8 D19H were in almost complete linkage disequilibrium in Abbreviations and Acronyms ABC = adenosine triphosphate-binding cassette transporter CI = confidence interval LDL = low-density lipoprotein MI = myocardial infarction OR = odds ratio the CCHS (D` &#bc; 0.98; r2 &#bc; 0.94), as previously described (11), and therefore only D19H was genotyped in the CGPS and the CIHDS studies (Online Fig. 1). Login to comment

PMID: 26358204 [PubMed] Castro-Torres IG et al: "Future therapeutic targets for the treatment and prevention of cholesterol gallstones."

No. Sentence Comment

1442 In the latter two countries, genetic mapping identified segments of about 250 kilobases, which can be mapped to the locus of ABCG5/8, ABCG5-R50C (p&#bc;4.94 10(9)) and ABCG8-D19H (p&#bc;1.74 10(10)). Login to comment

PMID: 24256507 [PubMed] Goodloe R et al: "Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III)."

No. Sentence Comment

90 Replication in European-descent populations ABCG5 rs6756629 (R50C) is in strong linkage disequilibrium with rs11887534 (D19H), a variant previously associated with gallstone disease risk in populations of European-descent [20]. Login to comment