Genes (44)
Species: human : 44 | |
Human | LOC100507436 | 100507436 | | MICA alleles studied bear no relation to cholelithiasis | Human | ABCG8 | 64241 | ATP-binding cassette, sub-family G (WHITE), member 8 | 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 Carriers of ABCG5 604Q or ABCG8 D19H polymorphisms have an increased risk of gallstone disease independent of age, sex and body mass index links between polymorphisms of ABC G8A (ABCG8) transporter gene to hypercholesterolemia and to gallstone disease risk (Review) 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 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 These findings indicate that the T400K polymorphism in ABCG8 may be associated with the incidence of gallstone disease in males | Human | ABCG5 | 64240 | ATP-binding cassette, sub-family G (WHITE), member 5 | Upregulation of ABCG5/ABCG8 in gallstone patients, possibly mediated by increased liver X receptor (LXR) alpha, may contribute to the cholesterol supersaturation of bile, a prerequisite for gallstone formation links between polymorphisms of ABC G5 (ABCG5) transporter gene to hypercholesterolemia and to gallstone disease risk (Review) | Human | UGT1A1 | 54658 | UDP glucuronosyltransferase 1 family, polypeptide A1 | the UGT1A1 gene promoter polymorphism may have a role in cholelithiasis in sickle cell anemia patients TA)(7)/(TA)(7) genotype may be a risk factor for symptomatic gallstones in older people with sickle cell disease Title:Association of UGT1A1 polymorphism with prevalence and age at onset of cholelithiasis in sickle cell anemia.|Association:Y|Conclusion:This study shows that the UGT1A1 gene promoter polymorphism is a major genetic risk factor modifying the frequency and age-at-onset of cholelithiasis in SCA patients. homozygous variation in the UGT1A1 gene is a risk factor for the development of cholelithiasis in Taiwan Chinese Polymorphisms in UGT1A1 causes cholelithiasis and a modifier of bilirubin metabolism combined TATA-box variants and G71R mutations of the UGT1A1 is associated with cholelithiasis in beta-thal/hemoglobin E Title:Effects of variant UDP-glucuronosyltransferase 1A1 gene, glucose-6-phosphate dehydrogenase deficiency and thalassemia on cholelithiasis.|Association:Not Found|Conclusion:Our results show that the homozygous variation in the UGT1A1 gene is a risk factor for the development of cholelithiasis in Taiwan Chinese. | Human | NPC1L1 | 29881 | NPC1-like 1 | The increased NPC1L1 and ACAT2 mRNA levels in gallstone patients might indicate an upregulated absorption and esterification of cholesterol in the small intestine | Human | NR1H4 | 9971 | nuclear receptor subfamily 1, group H, member 4 | in three ethnically distinct populations there is a complex interaction of fxr alleles and other risk factors for the development of cholelithiasis | Human | ABCB11 | 8647 | ATP-binding cassette, sub-family B (MDR/TAP), member 11 | The gallstone trait is not allelic to progressive familial cholestasis at the ABCB11 locus | Human | CUBN | 8029 | cubilin (intrinsic factor-cobalamin receptor) | results show different expression patterns of megalin and cubulin in calculous gallbladders and acalculous gallbladders suggesting an association with gallstone formation and implying a putative role of the two proteins in cholesterol endocytosis | Human | VIPR2 | 7434 | vasoactive intestinal peptide receptor 2 | INFERRED, Score=800, UMLKSK CUI: C0008350 | Human | VIP | 7432 | vasoactive intestinal peptide | The abnormal excretion of hormonal factors is closely related to gallstone formation | Human | TNF | 7124 | tumor necrosis factor | TNF is involved in the pathogenesis of gallbladder carcinoma induced by gallstones | Human | TBX1 | 6899 | T-box 1 | Cholelithiasis (19% of adults) | Human | PRLR | 5618 | prolactin receptor | expression in hepatocytes was maximum in secondary liver cancer, high in obstructive jaundice, and less in cholelithiasis; expression in cholangiocytes was higher than in hepatocytes and was maximum during obstructive jaundice | Human | PPARG | 5468 | peroxisome proliferator-activated receptor gamma | No evidence of association of APOBEC1 and PPARG with gallstone susceptibility was detected | Human | PLA2G2A | 5320 | phospholipase A2, group IIA (platelets, synovial fluid) | increased flux of cholesterol from HDL into the liver via SR-BI as a result of PLA2G2A modification of the HDL particle translates neither into increased biliary and fecal sterol output nor into increased gallstone formation | Human | PKLR | 5313 | pyruvate kinase, liver and RBC | | Human | ABCB4 | 5244 | ATP-binding cassette, sub-family B (MDR/TAP), member 4 | Title:ABCB4 gene mutation-associated cholelithiasis in adults.|Association:Y|Conclusion:Our results show that ABCB4 gene mutations represent a major genetic risk factor in a symptomatic and recurring form of cholelithiasis in young adults. 48 mutations of MDR3 gene have been reported in humans to date, from which 43 (89.5%) in the coding region, and 5 splice site mutations have been associated to cholesterol cholelithiasis This study demonstrates that splicing mutations in the MDR3 gene can cause intrahepatic cholestasis of pregnancy with normal gamma-GT and may be associated with stillbirths and gallstone disease Low phospholipid-associated cholelithiasis (LPAC) is characterized by the association of ABCB4 mutations and low biliary phospholipid concentration with symptomatic and recurring cholelithiasis | Human | PFKM | 5213 | phosphofructokinase, muscle | Gallstones due to hemolytic anemia | Human | MUC5AC | 4586 | mucin 5AC, oligomeric mucus/gel-forming | MUC5AC is over-expressed in gallstone disease, despite the decrease in the expression of EGFR mRNA | Human | MLN | 4295 | motilin | The abnormal excretion of hormonal factors is closely related to gallstone formation | Human | LRPAP1 | 4043 | low density lipoprotein receptor-related protein associated protein 1 | An insertion allele is found to be associated with gallstone disease Low-density lipoprotein receptor-related protein associated protein (LRPAP1) insertion/deletion polymorphism is associated with gallstone disease and gallbladder carcinoma Low-density lipoprotein receptor-related protein-associated protein (LRPAP1) gene IVS5 insertion/deletion polymorphism is not a risk factor for gallstone disease in a Polish population | Human | LRP2 | 4036 | low density lipoprotein receptor-related protein 2 | results show different expression patterns of megalin and cubulin in calculous gallbladders and acalculous gallbladders suggesting an association with gallstone formation and implying a putative role of the two proteins in cholesterol endocytosis | Human | LEPR | 3953 | leptin receptor | Obesity-related leptin receptor polymorphisms are not associated with gallstones disease | Human | LEP | 3952 | leptin | There are notable differences in leptin, serum lipid, and CCK between patients with gallstone and those with hepatolithiasis that insulin resistance and the development of gallstones appears to be associated with serum leptin levels in subjects with overweight, but not in obese subjects with similar metabolic profiles | Human | LDLR | 3949 | low density lipoprotein receptor | Title:Polymorphisms at cholesterol 7alpha-hydroxylase, apolipoproteins B and E and low density lipoprotein receptor genes in patients with gallbladder stone disease.|Association:Not Found|Conclusion:With an association analysis, it was determined that A allele of CYP7A gene and X+ allele of APOB gene might be considered as risk genes for GSD. These alleles are related with differences of serum lipids among subjects. Multiple-variable logistic regression model analysis showed that besides BMI, GSD was affected by polygenetic factors. But the mechanism for these two alleles responsible for GSD requires further investigations. |
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