Association of apolipoprotein B XbaI (rs693) polymorphism and gallstone disease risk based on a comprehensive analysis

Zhu, Haifeng; Yu, Linhai; Feng, Linsong

doi:10.1186/s41021-021-00189-z

Cited by 3 publications

(4 citation statements)

References 39 publications

(22 reference statements)

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“…In a meta-analysis of 61 studies including 50,018 subjects, variant allele carriers had high levels of APOB, TG, TC and LDL-C and low HDL-C levels [32]. A meta-analysis including 14 case-control studies showed that APOB rs693 may be a risk factor for gallstone disease, especially in Asians [33]. The SNP rs693 in the APOB gene increased the risk of breast cancer and aortic stenosis among Chinese subjects [34,35].…”

Section: Discussionmentioning

confidence: 99%

Association between Genetic Polymorphisms and Bleeding in Patients on Direct Oral Anticoagulants

et al. 2022

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Objectives: The purpose of our study is to investigate the effects of apolipoprotein B (APOB) and APOE gene polymorphisms on bleeding complications in patients receiving direct oral anticoagulants (DOACs). Methods: A total of 16 single nucleotide polymorphisms (SNPs) in 468 patients were genotyped. Six SNPs of ABCB1 (rs3842, rs1045642, rs2032582, rs1128503, rs3213619, and rs3747802), one SNP of CYP3A5 (rs776746), seven SNPs of APOB (rs1042034, rs2163204, rs693, rs679899, rs13306194, rs13306198, and rs1367117), and two SNPs of APOE (rs429358 and rs7412) were analyzed by a TaqMan genotyping assay. Multivariable logistic regression analysis with selected variables was performed for the construction of a risk scoring system. Two risk scoring systems were compared (demographic factors only vs. demographic factors and genetic factors). Results: In the multivariable analyses, two models were constructed; only demographic factors were included in Model I and both demographic factors and genetic factors in Model II. Rivaroxaban and anemia showed significant association with bleeding in both models. Additionally, ABCB1 rs3842 variant homozygote carriers (CC) and APOB rs13306198 variant allele carriers (AG, AA) had a higher risk of bleeding risk compared with that of wild-type allele carriers (TT, TC) and wild-type homozygote carriers (GG), respectively. Whereas the area under the receiver operating characteristic curve (AUROC) value using demographic factors only was 0.65 (95% confidence interval (CI): 0.56–0.74), the AUROC increased to 0.72 by adding genetic factors (95% CI: 0.65–0.80). The predicted bleeding risks of bleeding in patients with 0, 1, 2, 3, 4, 5, 6, 7 and 8 points from the logistic regression curve were 0.8%, 2.0%, 5.4%, 5.2%, 12.5%, 26.9%, 47.0%, 64.3% and 82.3%, respectively. Conclusions: The study results can be used for enhancing individualized treatment strategies in patients taking DOACs, helping clinicians predict the bleeding risk.

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Section: Discussionmentioning

confidence: 99%

Association between Genetic Polymorphisms and Bleeding in Patients on Direct Oral Anticoagulants

et al. 2022

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“… 36 In a 2021 analysis focused on the XbaI rs693 variant, the presence of this mutation increased the risk of GS disease among the Chinese population, with an OR of nearly 3. 37 This elevated risk remained consistent across both sexes.…”

Section: Genetic Causes Of Cholesterol Gssmentioning

confidence: 68%

“…A significant proportion of these mutations influence cholesterol synthesis or transport in various ways ( Table 1 ). 12 , 14 , 19 , 20 , 23 , 28 , 30 , 31 , 33 – 35 , 37 , 38 , 40 , 47 , 51 , 52 , 66 – 71 Notably, the most impactful genes are those belonging to the ABC transporter family, particularly the ABCG8 cholesterol transporter. Different genes play important roles in the pathogenesis of GS disease across various ethnicities.…”

Section: Discussionmentioning

confidence: 99%

“…A significant proportion of these mutations influence cholesterol synthesis or transport in various ways (Table 1). 12,14,19,20,23,28,30,31,[33][34][35]37,38,40,47,51,52,[66][67][68][69][70][71] Notably, While cholelithiasis is commonly observed, particularly among older adults, certain features should prompt consideration of a genetic basis for this condition (Fig. 2).…”

Section: Discussionmentioning

confidence: 99%

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Genetics of Gallstone Disease and Their Clinical Significance: A Narrative Review

Costa,

Nguyen,

Vaziri

et al. 2024

J Clin Transl Hepatol

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Gallstone (GS) disease is common and arises from a combination of genetic and environmental factors. Although genetic abnormalities specifically leading to cholesterol GSs are rare, there are clinically significant gene variants associated with cholesterol GSs. In contrast, most bilirubin GSs can be attributed to genetic defects. The pathogenesis of cholesterol and bilirubin GSs differs greatly. Cholesterol GSs are notably influenced by genetic variants within the ABC protein superfamily, including ABCG8, ABCG5, ABCB4, and ABCB11, as well as genes from the apolipoprotein family such as ApoB100 and ApoE (especially the E3/E3 and E3/E4 variants), and members of the MUC family. Conversely, bilirubin GSs are associated with genetic variants in highly expressed hepatic genes, notably UGT1A1, ABCC2 (MRP2), ABCC3 (MRP3), CFTR, and MUC, alongside genetic defects linked to hemolytic anemias and conditions impacting erythropoiesis. While genetic cases constitute a small portion of GS disease, recognizing genetic predisposition is essential for proper diagnosis, treatment, and genetic counseling.

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IL-6 and IL-10 gene polymorphisms and cirrhosis of liver risk from a comprehensive analysis

Zheng

Fang

et al. 2021

BMC Endocr Disord

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Background Different inflammatory and immune cytokines play a key role in the development of cirrhosis of liver (CL). To investigate the association between interleukin-6,10 (IL-6,10) genes polymorphisms and CL risk through comparison of the allele and genotype distribution frequencies by meta-analysis. Methods A literature search covered with the PubMed, Embase, Cochrane Library, Web of Science, Google Scholar, SinoMed (CNKI and Wanfang) through 20th April, 2021. Odds ratios (OR) and 95% confidence intervals (CI) were used to assess the strength of associations. Results After a comprehensive search, three common polymorphisms (rs1800872, rs1800871, rs1800896) in IL-10 gene were selected, and three common polymorphisms (rs1800795, rs1800796, rs1800797) in IL-6 gene were also identified. The important finding was that IL-10 rs1800872 was a risk factor for CL development. For example, there has a significantly increased relationship between rs1800872 polymorphism and CL both in the whole group (OR: 1.30, 95%CI: 1.01–1.67 in heterozygote model), Asian population (OR: 1.40, 95%CI: 1.03–1.88 in heterozygote model) and hospital-based source of control (OR: 1.40, 95%CI: 1.01–1.96 in dominant model). In addition, significant association was found between rs1800896 and primary biliary cirrhosis subtype disease (OR: 1.30, 95%CI: 1.01–1.68 in allelic contrast model). No association was observed in all three polymorphisms in IL-6 gene. Conclusion Our present study suggests that the IL-10 rs1800872 and rs1800896 polymorphisms is potentially associated with the risk of CL susceptibility.

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Association of apolipoprotein B XbaI (rs693) polymorphism and gallstone disease risk based on a comprehensive analysis

Cited by 3 publications

References 39 publications

Association between Genetic Polymorphisms and Bleeding in Patients on Direct Oral Anticoagulants

Association between Genetic Polymorphisms and Bleeding in Patients on Direct Oral Anticoagulants

Genetics of Gallstone Disease and Their Clinical Significance: A Narrative Review

IL-6 and IL-10 gene polymorphisms and cirrhosis of liver risk from a comprehensive analysis

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