ABCMdb

PMID: 19018975

Srivastava A, Tulsyan S, Pandey SN, Choudhuri G, Mittal B
Single nucleotide polymorphism in the ABCG8 transporter gene is associated with gallbladder cancer susceptibility.
Liver Int. 2009 Jul;29(6):831-7. Epub 2008 Oct 31., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCG8 p.Asp19His A common genetic polymorphism D19H of ABCG8 associated with gallstone disease may be causatively related to the genetic predisposition of GBC. Login to comment 5 ABCG8 p.Asp19His Aim: We aimed to examine the role of ABCG8 D19H (rs11887534) polymorphism in susceptibility to GBC. Login to comment 7 ABCG8 p.Asp19His Genotyping for the ABCG8 D19H polymorphism was performed by the polymerase chain reaction-restriction fragment length polymorphism method. Login to comment 12 ABCG8 p.Asp19His Conclusion: The results suggest that the DH genotype and the H allele of the ABCG8 D19H polymorphism are associated with GBC susceptibility. Login to comment 34 ABCG8 p.Asp19His ABCG8 p.Asp19His Buch et al. (19) identified a single nucleotide polymorphism (rs11887534) in the ABCG8 gene, conferring G 4 C transversion corresponding to asp19-to-his (D19H) substitution, which was significantly associated with gallstone disease. Login to comment 35 ABCG8 p.Asp19His ABCG8 p.Asp19His Considering the importance of the ABCG8 transporter in maintaining the cholesterol homeostasis and association of the D19H genetic variant with gallstone disease, we aimed to explore the role of the ABCG8 D19H polymorphism in susceptibility to GBC that arises against the background of gallstone disease. Login to comment 48 ABCG8 p.Asp19His The ABCG8 D19H polymorphic site containing fragment was amplified by PCR. Login to comment 52 ABCG8 p.Asp19His Thus, the BamHI restriction enzyme (New England Biolabs Inc., Beverly, MA, USA) was used to genotype the ABCG8 D19H polymorphism. Login to comment 55 ABCG8 p.Asp19His Figure 1 shows the representative gel picture showing all the genotypes of the ABCG8 D19H polymorphism. Login to comment 65 ABCG8 p.Asp19His Representative gel picture showing various genotypes of the ABCG8 D19H polymorphism. Login to comment 75 ABCG8 p.Asp19His ABCG8 p.Asp19His ABCG8 D19H polymorphism in the control group In our population, the observed genotype distribution of ABCG8 D19H polymorphism in healthy controls was consistent with Hardy-Weinberg equilibrium. Login to comment 77 ABCG8 p.Asp19His ABCG8 D19H polymorphism in gallbladder cancer patients On comparing the genotype frequency distribution in GBC patients with that of healthy controls, the frequency of the heterozygous DH genotype was considerably higher (35.1%) in GBC patients than that in controls (22.6%). Login to comment 86 ABCG8 p.Asp19His The frequency distribution of the ABCG8 D19H genotype in GBC patients with stones was 36.4%, while it was 22.6% in healthy controls. This difference was statistically significant (P = 0.027) and was conferring a risk (OR = 1.8; 95% CI = 1.0-3.1) for GBC patients who had a history of gallstone disease. Login to comment 94 ABCG8 p.Asp19His Genotype and allele frequencies for the ABCG8 D19H (rs11887534) polymorphism in gallbladder cancer patients and healthy subjects Genotype/ allele GBC (171) HC (221) P-value OR (95% CI)n (%) n (%) DD 110 (64.3) 170 (76.9) - 1 (reference) DH 60 (35.1) 50 (22.6) 0.011 1.79 (1.1-2.8) HH 1 (0.6) 1 (0.5) 0.728 1.63 (0.1-26.5) D 281 (82.2) 391 (88.5) - 1 (reference) H 61 (17.8) 51 (11.5) 0.023 1.60 (1.2-2.4) Significant values are represented in bold. CI, confidence interval; GBC, gallbladder cancer; HC, healthy control; OR, odds ratio. Login to comment 111 ABCG8 p.Asp19His We explored the role of the ABCG8 D19H polymorphism in GBC susceptibility and observed a significant association with the DH genotype and the H allele. Login to comment 114 ABCG8 p.Asp19His Genotype and allele frequencies for the ABCG8 D19H (rs11887534) polymorphism after stratification of gallbladder cancer patients on the basis of presence and absence of gallstone Genotype/ allele GBC with stone vs healthy control GBC without stone vs healthy control GBC (88) HC (221) P-value OR (95% CI) GBC (83) HC (221) P-value OR (95% CI)n (%) n (%) n (%) n (%) DD 55 (62.5) 170 (76.9) - 1 (reference) 55 (66.3) 170 (76.9) - 1 (reference) DH 32 (36.4) 50 (22.6) 0.027 1.85 (1.3-3.1) 28 (33.7) 50 (22.6) 0.065 1.69 (0.9-2.9) HH 1 (1.1) 1 (0.5) 0.374 3.55 (0.2-8.1) 0 1 (0.5) - - D 143 (81.3) 391 (88.5) - 1 (reference) 138 (83.1) 391 (88.5) - 1 (reference) H 33 (18.7) 51 (11.5) 0.043 1.64 (1.2-2.6) 28 (16.9) 51 (11.5) 0.105 1.51 (0.9-2.5) Significant values are represented in bold. CI, confidence interval; GBC, gallbladder cancer; HC, healthy control; OR, odds ratio. Login to comment 116 ABCG8 p.Asp19His The frequency distribution of genotype and allele of ABCG8 D19H (rs11887534) polymorphism in gallbladder cancer patients and healthy controls after sex stratification Genotype/ allele Male Female GBC (66) HC (94) P-value OR (95% CI) GBC (105) HC (127) P-value OR (95% CI)n (%) n (%) n (%) n (%) DD 43 (65.2) 72 (76.6) - 1 (reference) 67 (63.8) 98 (77.2) - 1 (reference) DH 23 (34.8) 21 (22.3) 0.086 1.85 (0.9-3.7) 37 (35.2) 29 (22.8) 0.071 1.71 (0.9-3.0) HH 0 (0.0) 1 (1.1) - - 1 (1.0) 0 (0) - - D 110 (83.3) 166 (88.3) - 1 (reference) 171 (81.4) 225 (88.6) - 1 (reference) H 22 (16.7) 22 (11.7) 0.192 1.53 (0.8-2.9) 39 (18.6) 29 (11.4) 0.057 1.67 (0.9-2.8) CI, confidence interval; GBC, gallbladder cancer; HC, healthy control; OR, odds ratio. Login to comment 118 ABCG8 p.Asp19His The variant H allele of the ABCG8 D19H polymorphism is suggested to increase the expression or the function of the ABCG8 transporter, resulting in a positive correlation with high biliary cholesterol secretion and accumulation in the gallbladder, which serves as an initial step in gallstone formation (18, 22, 26). Login to comment 140 ABCG8 p.Asp19His Individuals facing imbalance in cholesterol transport in the early stage because of the presence of this ABCG8 D19H polymorphism are more susceptible to GBC, which may lead to rapid manifestation of the disease. Login to comment 146 ABCG8 p.Asp19His The frequency distribution of genotype and allele of ABCG8 D19H (rs11887534) polymorphism in gallbladder cancer patients and healthy control on the basis of age of onset of disease Genotype/ allele Early onset (subjects below 50 years) Late onset (subjects above 50 years) GBC (55) HC (73) P-value OR (95% CI) GBC (116) HC (148) P-value OR (95% CI)n (%) n (%) n (%) n (%) DD 33 (60.0) 59 (80.8) 1 (reference) 77 (66.4) 111 (75.0) 1 (reference) DH 21 (38.2) 14 (19.2) 0.016 2.60 (1.1-5.8) 39 (33.6) 36 (24.3) 0.124 1.52 (0.8-2.6) HH 1 (1.8) 0 (0) - - 0 (0) 1 (0.7) - - D 88 (80.0) 133 (91.1) 1 (reference) 193 (83.2) 258 (87.2) - 1 (reference) H 22 (20.0) 13 (8.9) 0.013 2.55 (1.2-5.3) 39 (16.8) 38 (12.8) 0.221 1.35 (0.8-2.2) Significant values are represented in bold. CI, confidence interval; GBC, gallbladder cancer; HC, healthy control; OR, odds ratio. Login to comment