|
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
|
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
|
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
|
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
|
Cholecystolithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
The fraction of all gallstones attributed to D19H was 11%.
|
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
|
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
|
Cholecystolithiasis
|
C |
0.800 |
GeneticVariation |
GWASDB |
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
|
17632509 |
2007 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholecystolithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
To investigate a possible association between transporter gene polymorphism and gallstone formation, we examined five common polymorphisms in the ABCG5 (Q604E) and ABCG8 (D19H, Y54C, T400K, A632V) genes in patients with gallstone disease (GS).
|
17612515 |
2007 |
|
rs11887534
|
ABCG5;ABCG8
|
Cholecystolithiasis
|
|
0.800 |
GeneticVariation |
BEFREE |
Consistent with the mouse model, heterozygosity for the lithogenic ABCG8 allele was associated with gallstones in humans; 21.4% of gallstone patients carried the heterozygous D19H genotype, compared with 8.6% of controls (OR = 2.954; P = 0.026).
|
17626266 |
2007 |
|
rs6720173
|
DYNC2LI1;ABCG5
|
Cholecystolithiasis
|
|
0.020 |
GeneticVariation |
BEFREE |
Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have been found to be associated with several facets of cholesterol metabolism, including baseline cholesterol level, cholesterol kinetics, individual responsiveness of plasma cholesterol to dietary and pharmaceutical interventions for hypercholesterolemia, and increased risk of gallstones.
|
18522623 |
2008 |
|
rs6720173
|
DYNC2LI1;ABCG5
|
Cholecystolithiasis
|
|
0.020 |
GeneticVariation |
BEFREE |
To investigate a possible association between transporter gene polymorphism and gallstone formation, we examined five common polymorphisms in the ABCG5 (Q604E) and ABCG8 (D19H, Y54C, T400K, A632V) genes in patients with gallstone disease (GS).
|
17612515 |
2007 |