Evidence map›Paper›PMID 38869622›Full record

ArticleMolecular genetics and genomics : MGG2024

SLC10A1 rs2296651 variant (S267F mutation) predicts biochemical traits, hepatitis B virus infection susceptibility and the risk of gallstone disease.

Yu-Lin Ko, Wei-Lun Tuan, Ming-Sheng Teng, Wei-Chih Su, Chia-Chi Wang, Leay-Kiaw Er, Semon Wu, Lung-An Hsu

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In one paragraph

Article in Molecular genetics and genomics : MGG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Yu-Lin KoDepartment of Research, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei city, Taiwan. yulinkotw@yahoo.com.tw.ORCID http://orcid.org/0000-0002-8218-6827
Wei-Lun TuanDepartment of Internal Medicine, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei, Taiwan.
Ming-Sheng TengDepartment of Research, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei city, Taiwan.
Wei-Chih SuSchool of Medicine, Tzu Chi University, Hualien, Taiwan.
Chia-Chi WangSchool of Medicine, Tzu Chi University, Hualien, Taiwan.
Leay-Kiaw ErSchool of Medicine, Tzu Chi University, Hualien, Taiwan.
Semon WuDepartment of Life Science, Chinese Culture University, Taipei, Taiwan.
Lung-An HsuThe First Cardiovascular Division, Department of Internal Medicine, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan.

Funding

Buddhist Tzu Chi Medical Foundation TCMF-A 107-01-15Buddhist Tzu Chi Medical Foundation TCMF-EP 111-02Taipei Tzu Chi Hospital TCRD-TPE-112-02
6 · The paper itself

Abstract

Sodium taurocholate co-transporting polypeptide (NTCP), a bile acid transporter, plays a crucial role in regulating bile acid levels and influencing the risk of HBV infection. Genetic variations in the SLC10A1 gene, which encodes NTCP, affect these functions. However, the impact of SLC10A1 gene variants on the metabolic and biochemical traits remained unclear. We aimed to investigate the association of SLC10A1 gene variants with the clinical and biochemical parameters, and the risk of different HBV infection statuses and gallstone disease in the Taiwanese population. Genotyping data from 117,679 Taiwan Biobank participants were analyzed using the Axiom genome-wide CHB arrays. Regional-plot association analysis demonstrated genome-wide significant association between the SLC10A1 rs2296651 genotypes and lipid profile, gamma glutamyl transferase (γGT) level and anti-HBc-positivity. Genotype-phenotype association analyses revealed significantly lower total cholesterol, low-density lipoprotein (LDL) cholesterol and uric acid levels, a higher γGT level and a higher gallstone incidence in rare rs2296651-A allele carrier. Participants with the rs2296651 AA-genotype exhibited significantly lower rates of anti-HBc-positivity and HBsAg-positivity. Compared to those with the GG-genotype, individuals with non-GG-genotypes had reduced risks for various HBV infection statuses: the AA-genotype showed substantially lower risks, while the GA-genotype demonstrated modestly lower risks. Predictive tools also suggested that the rs2296651 variant potentially induced protein damage and pathogenic effects. In conclusion, our data revealed pleiotropic effects of the SLC10A1 rs2296651 genotypes on the levels of biochemical traits and the risk of HBV infection and gallstone disease. This confirms SLC10A1's versatility and implicates its genotypes in predicting both biochemical traits and disease susceptibility.

Indexed as

GallstonesGenetic Predisposition to DiseaseHepatitis BHepatitis B virusOrganic Anion Transporters, Sodium-DependentPolymorphism, Single NucleotideSymportersAdultFemaleGenetic Association StudiesGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedRisk FactorsOrganic Anion Transporters, Sodium-Dependentsodium-bile acid cotransporterSymportersGallstone diseaseHepatitis B virus infectionLow-density lipoprotein cholesterolSLC10A1 rs2296651 variantSodium taurocholate co-transporting polypeptide deficiencyTaiwan biobank

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.