Recombinant Human ATP-binding cassette sub-family G member 8 (ABCG8)

1. we identified a novel mutation in the ABCG8 gene, which in the homozygous form was associated with generalized xanthomatosis, and in the heterozygous form was associated with isolated xanthelasmas PMID: 28739549
2. Case Reports: compound heterozygous for nonsense mutations in ABCG8 responsible for sitosterolemia. PMID: 28521186
3. ABCG8 genetic variants may have role in the development of cholelithiasis in patients with Gaucher disease type 1. PMID: 27981300
4. Genetic polymorphism within the ABCG8 gene is a risk factor for diabetes. PMID: 26088706
5. A polymorphism of the sterol transporter ABCG8 has been associated with the prevalence of end-stage renal disease PMID: 25804128
6. Mutation in ABCG8 is associated with sitosterolaemia. PMID: 25056759
7. A single nucleotide polymorphism of ABCG8 is associated with fasting plasma glucose levels in a cross-sectional study but do not predict hyperglycemia or incident type 2 diabetes. [meta-analysis] PMID: 23840693
8. The evolutionary conserved region of ABCG8 were found to be responsive to the Liver-X-Receptor. PMID: 23790976
9. Recurrence of gallstones after cholecystectomy is associated with ABCG8 genotype. PMID: 22869156
10. ABCG8 (and ABO) variants are associated with high intestinal cholesterol absorption and cardiovascular disease. PMID: 23707316
11. Both gallstone disease and p.D19H of ABCG8 are associated with diminished cholesterol absorption. PMID: 23406058
12. ABCG8-D19H variant associated with cholesterol gallstone disease PMID: 22898925
13. G574R variant is associated with moderately elevated plant sterol levels in Old Order Amish. Carriers of the 574R allele had modestly lower levels of carotid wall thickness compared with noncarriers. PMID: 23241408
14. The ABCG8 rs4148217 SNP is associated with serum TG, HDL-C and ApoA1 levels in our study populations, but this association is different between the Mulao and Han populations. PMID: 22548731
15. Data suggest that ABCG8 S107X heterozygous mutation affects plasma phytosterol levels but not cholesterol metabolism (i.e., intestinal absorption, biosynthesis). Mutation affects efficacy of phytosterols supplementation on cholesterol absorption. PMID: 22378727
16. ABCG8 D19H genotype was an important predictor of both symptomatic gallstone disease and biliary cancer. PMID: 21274884
17. In the present study, we observed a highly significant association of the ABCG8 DH genotype and H allele with gallstone susceptibility in the northern Indian population. PMID: 21039838
18. Associations of 4 common ABCG8 polymorphisms (D19H, Y54C, T400K, and A632V)with ischemic stroke and coronary artery disease were sought. There was a tendency toward reduced 54YY-genotype frequency among male patients under 50 years of age with stroke. PMID: 20854103
19. ABCG8 rs11887534, identified as a gallstone risk single-nucleotide polymorphism by whole genome scan, is also associated with an increased risk of biliary tract cancer PMID: 21062971
20. A systematic review and meta-analysis of ABCG8 polymorphisms and association with markers of cholesterol metabolism. PMID: 20581104
21. Common variants in ABCG8 and ABO are strongly associated with serum phytosterol levels and show concordant and previously unknown associations with coronary heart disease. PMID: 20529992
22. For the ABCG8 gene, the rs4148211 polymorphism was associated with higher plasma total cholesterol and LDLcholesterol concentrations in the total population. PMID: 20170916
23. Genetic variant 19H of ABCG8 is associated with coronary artery disease. PMID: 20592455
24. SNP D19H, but not SNP T400K, in the ABCG8 gene is significantly associated with GSD in an Indian population. PMID: 20594224
25. Twins carrying a heterozygous or homozygous ABCG8 D19H genotype have a significantly increased risk of gallstone disease. PMID: 20497293
26. strong association of sequence variants of HMGCR, SREBF1 and ABCG8 genes with the reduction of LDL-C after statin treatment in a Chinese population PMID: 20235787
27. Common DNA sequence polymorphisms in the ABCG8 gene contribute to heritable variation in the plasma concentrations of the plant sterols campesterol and sitosterol. PMID: 11893785
28. In a sitosterolemia patient a novel heterozygous mutation has been found in exon 5 of ABCG8 (c.584T>A; Leu195Gln). PMID: 12124998
29. Genetic variations in the ABCG8 gene may play a role in the genetic determination of plasma cholesterol levels and could possibly influence the gender-specific response of plasma cholesterol levels after dietary changes. PMID: 15311998
30. These findings indicate that the T400K polymorphism in ABCG8 may be associated with the incidence of gallstone disease in males. PMID: 17612515
31. The results of the genetic study taken together indicate that in gallstone-susceptible carriers of the ABCG8 19H allele, cholesterol cholelithiasis is secondary to increased hepatobiliary cholesterol secretion. PMID: 17626266
32. An association scan of >500,000 SNPs in individuals with gallstones and controls was performed; a follow-up study of the 235 most significant SNPs in affected individuals and controls replicated the disease association of SNP A-1791411 in ABCG8. PMID: 17632509
33. Single nucleotide polymorphisms in ABCG8 are associated with changes in cholesterol metabolism during weight loss PMID: 17827468
34. Upregulation of ABCG5/ABCG8 in gallstone patients, possibly mediated by increased liver X receptor alpha, may contribute to the cholesterol supersaturation of bile, a prerequisite for gallstone formation. PMID: 18007013
35. links between polymorphisms of ABC G8A (ABCG8) transporter gene to hypercholesterolemia and to gallstone disease risk (Review) PMID: 18522623
36. Coexistence of higher insulin resistance and hypercholesterolemia for carriers of the aspartate-19-histidine polymorphism may result in a greater risk of cardiovascular disease. PMID: 18581044
37. Genetic variation in the ABCG8 gene may influence the burden of atherosclerosis in familial hypercholesteremia. PMID: 18977479
38. The DH genotype and the H allele of the ABCG8 D19H polymorphism are associated with Gallbladder cancer susceptibility. PMID: 19018975
39. Insulin resistance elevates ABCG8 and increases susceptibility to cholesterol gallstones PMID: 19306529

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HGNC: 13887

OMIM: 210250

KEGG: hsa:64241

STRING: 9606.ENSP00000272286

UniGene: Hs.413931