|
rs11887534
|
ABCG5;ABCG8
|
Cholecystolithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
In retrospective controlled study, we determined D19H polymorphism of ABCG8 gene, genetic variation at Niemann-Pick C1-like 1 (NPC1L1) gene locus (rs41279633, rs17655652, rs2072183, rs217434 and rs2073548), and serum cholesterol, noncholesterol sterols and lipids in children affected by gallstones decades later (n = 66) and controls (n = 126).
|
29764733 |
2018 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholelithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
In retrospective controlled study, we determined D19H polymorphism of ABCG8 gene, genetic variation at Niemann-Pick C1-like 1 (NPC1L1) gene locus (rs41279633, rs17655652, rs2072183, rs217434 and rs2073548), and serum cholesterol, noncholesterol sterols and lipids in children affected by gallstones decades later (n = 66) and controls (n = 126).
|
29764733 |
2018 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholelithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
Among individuals of African American and Hispanic American ancestry, rs11887534 and rs4245791 were associated positively with gallstone disease risk, whereas the association for the rs1260326 variant was inverse.
|
27094239 |
2016 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholelithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
Our study showed strong association of D19H polymorphism with gallstone disease.
|
24498041 |
2014 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholecystolithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
In the genotype model, the overall association between genotype with gallstone was significant for D19H (OR = 2.43, 95%CI: 2.23-2.64, P<0.001), and for Y54C (OR = 1.36, 95%CI: 1.01-1.83, P = 0.044), or T400K (OR = 1.17, 95%CI: 0.96-1.43.P = 0.110).
|
24498041 |
2014 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholecystolithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
Mutational analysis of ABCB4, screening for copy number variations by multiplex ligation-dependent probe amplification, genotyping for low expression allele c.1331T>C of ABCB11 and genotyping for variation c.55G>C in ABCG8 previously associated with cholesterol gallstones in adults was performed in 35 pediatric subjects with idiopathic gallstones who fulfilled the clinical criteria for low phospholipid-associated cholelithiasis syndrome (LPAC, OMIM #600803) and in 5 young females with suspected LPAC and their families (5 probands, 15 additional family members).
|
24914347 |
2014 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholelithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
Mutational analysis of ABCB4, screening for copy number variations by multiplex ligation-dependent probe amplification, genotyping for low expression allele c.1331T>C of ABCB11 and genotyping for variation c.55G>C in ABCG8 previously associated with cholesterol gallstones in adults was performed in 35 pediatric subjects with idiopathic gallstones who fulfilled the clinical criteria for low phospholipid-associated cholelithiasis syndrome (LPAC, OMIM #600803) and in 5 young females with suspected LPAC and their families (5 probands, 15 additional family members).
|
24914347 |
2014 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholecystolithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
ABCG8-D19H is a predictor of gallstone recurrence, a major long term postoperative biliary complication.
|
22869156 |
2013 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholelithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
Both gallstone disease and p.D19H of ABCG8 are associated with diminished cholesterol absorption.
|
23406058 |
2013 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholelithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
ABCG5 rs6756629 is in strong linkage disequilibrium with rs11887534 (D19H), a variant previously associated with gallstone disease risk in populations of European-descent.
|
24256507 |
2013 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholelithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
ABCG8-D19H is a predictor of gallstone recurrence, a major long term postoperative biliary complication.
|
22869156 |
2013 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholecystolithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
D19H was found to be significantly associated with gallstones (odds ratio [OR] = 2.9, P = 0.0220, 95% confidence interval [CI]:1.22-6.89), particularly in the overweight cohort (OR = 3.2, P = 0.0430, 95% CI:1.07-9.26).
|
23406058 |
2013 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholelithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
Carriers of the CG genotype of ABCG8 rs118</span>87534 had higher risk of bi</span>liary stones [odds ratio (OR) = 2.3, 95% confidence interval (CI) 0.82-6.5), gallbladder cancer (OR = 4.3, 95% CI 1.7-10.4) and bile duct cancer (OR = 1.94, 95% CI 0.64-5.91), compared with carriers of the GG genotype.
|
21062971 |
2011 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholecystolithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
The fraction of all gallstones attributed to D19H was 11%.
|
21274884 |
2011 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholelithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
In this general population cohort, ABCG8 D19H genotype was an important predictor of both symptomatic gallstone disease and biliary cancer.
|
21274884 |
2011 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholecystolithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
Our findings suggest that 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.
|
21062971 |
2011 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholelithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
Carriers of the DH genotype and H allele of the ABCG8 D19H polymorphism harbor a higher risk for gallstone susceptibility in the northern Indian population.
|
21039838 |
2010 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholecystolithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
Carriers of the DH genotype and H allele of the ABCG8 D19H polymorphism harbor a higher risk for gallstone susceptibility in the northern Indian population.
|
21039838 |
2010 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholelithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
In our study we investigated the contribution of heterozygosity for common variations considered either potentially pathogenic or susceptibility alleles for cholesterol cholelithiasis in adults (c.523A>G (p.Thr175Ala) and c.1954A>G (p.Arg652Gly) in ABCB4, c.1331T>C (p.Val444Ala) in ABCB11 and c.55 G>C (p.Asp19His) in ABCG8) to the aetiology of paediatric idiopathic gallstone disease.
|
20163776 |
2010 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholelithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
Our study confirms the ABCG8 D19H genotype as a major risk factor for gallstone disease.
|
20497293 |
2010 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholelithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
A common genetic polymorphism D19H of ABCG8 associated with gallstone disease may be causatively related to the genetic predisposition of GBC.
|
19018975 |
2009 |
|
rs6756629
|
ABCG5;ABCG8
|
Low density lipoprotein cholesterol measurement
|
G |
0.800 |
GeneticVariation |
GWASCAT |
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
|
19060911 |
2009 |
|
rs6756629
|
ABCG5;ABCG8
|
Serum total cholesterol measurement
|
G |
0.800 |
GeneticVariation |
GWASCAT |
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
|
19060911 |
2009 |
|
rs6756629
|
ABCG5;ABCG8
|
Low density lipoprotein cholesterol measurement
|
G |
0.800 |
GeneticVariation |
GWASDB |
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
|
19060911 |
2009 |
|
rs6756629
|
ABCG5;ABCG8
|
Serum total cholesterol measurement
|
G |
0.800 |
GeneticVariation |
GWASDB |
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
|
19060911 |
2009 |