|
Bile Acid Malabsorption, Primary
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2).
|
9109432 |
1997 |
|
Bile Acid Malabsorption, Primary
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2).
|
9109432 |
1997 |
|
Bile Acid Malabsorption, Primary
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
In this study, we cloned the human ileal Na+/bile acid cotransporter gene (SLC10A2) and employed single-stranded conformation polymorphism analysis to screen for PBAM-associated mutations.
|
9109432 |
1997 |
|
Bile Acid Malabsorption, Primary
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Bile Acid Malabsorption, Primary
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Organic Mental Disorders, Substance-Induced
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
|
Substance Dependence
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
|
Substance abuse problem
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
|
Failure to Thrive
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Chronic diarrhea
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Cholelithiasis
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
Five of the gallstone associations are protein-altering variants, and three (HNF4A p.Thr139Ile, SERPINA1 p.Glu366Lys, and SLC10A2 p.Pro290Ser) conferred per-allele odds ratios for gallstone disease of 1.30-1.36.
|
30325047 |
2019 |
|
Cholelithiasis
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
In this study the SLC10A2 gene was investigated to identify novel genetic variants and their association with gallstone formation.
|
19823678 |
2009 |
|
Cholelithiasis
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
The intestinal apical sodium-dependent bile acid transporter (ASBT) shows a genetic association with gallstone disease.
|
22569176 |
2012 |
|
Cholelithiasis
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
Further analyses in larger cohorts are required to finally assess the role of genetic variants in SLC10A2 in human gallstone development and lipid metabolism.
|
22093174 |
2011 |
|
Cholelithiasis
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
Recent genome-wide association and candidate gene studies have identified common polymorphisms in enterohepatic transporters (ABCG5/8, SLC10A2) and the Gilbert syndrome UGT1A1 variant as genetic determinants of gallstone formation.
|
23340007 |
2013 |
|
Cholelithiasis
|
0.070 |
AlteredExpression
|
disease |
BEFREE |
In addition, abnormal ASBT expression and function might lead to some diseases associated with disorders in the enterohepatic circulation of BAs and cholesterol homeostasis, such as diarrhoea and gallstones.
|
28336180 |
2017 |
|
Cholelithiasis
|
0.070 |
Biomarker
|
disease |
BEFREE |
We demonstrate that lower bile acid transport by ASBT is accompanied by greater risk of gallstone disease and highlight the role of the intestinal compartment of the enterohepatic circulation of bile acids in gallstone disease susceptibility.
|
30504769 |
2018 |
|
Cholecystolithiasis
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Further analyses in larger cohorts are required to finally assess the role of genetic variants in SLC10A2 in human gallstone development and lipid metabolism.
|
22093174 |
2011 |
|
Cholecystolithiasis
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Five of the gallstone associations are protein-altering variants, and three (HNF4A p.Thr139Ile, SERPINA1 p.Glu366Lys, and SLC10A2 p.Pro290Ser) conferred per-allele odds ratios for gallstone disease of 1.30-1.36.
|
30325047 |
2019 |
|
Cholecystolithiasis
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
In this study the SLC10A2 gene was investigated to identify novel genetic variants and their association with gallstone formation.
|
19823678 |
2009 |
|
Cholecystolithiasis
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
In addition, abnormal ASBT expression and function might lead to some diseases associated with disorders in the enterohepatic circulation of BAs and cholesterol homeostasis, such as diarrhoea and gallstones.
|
28336180 |
2017 |
|
Cholecystolithiasis
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Recent genome-wide association and candidate gene studies have identified common polymorphisms in enterohepatic transporters (ABCG5/8, SLC10A2) and the Gilbert syndrome UGT1A1 variant as genetic determinants of gallstone formation.
|
23340007 |
2013 |
|
Cholestasis
|
0.040 |
Biomarker
|
disease |
BEFREE |
Elevated mRNA expression of liver IL-6, IL-17A, IL-17F, TGF-β1, α-SMA, TGR5, NTCP, OATP1a1, and ileum ASBT and decreased liver IL-10, FXR, CAR, VDR, BSEP, MRP2, MRP3, MRP4 was also observed in ANIT-induced cholestasis but were attenuated or normalized by YCHT.
|
28646179 |
2017 |
|
Cholestasis
|
0.040 |
Biomarker
|
disease |
BEFREE |
In this context, therapeutic approaches including new hydrophilic BA such as the conjugation-resistant nor- ursodeoxycholic acid, nuclear receptors (FXR, PPAR-alpha) agonists, FGF19 analogues, inhibitors of the apical sodium-dependent bile acid transporter [ASBT] and modulators of the inflammatory cascade triggered by BAs are being studied as novel treatments of cholestasis.
|
29080340 |
2017 |
|
Cholestasis
|
0.040 |
AlteredExpression
|
disease |
BEFREE |
Duodenal ASBT expression in control subjects (171.8 (20.3)) was found to be approximately fourfold higher compared with patients with obstructive cholestasis (37.9 (6.5); p<0.0001).
|
16150853 |
2006 |