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

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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.

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The data presented in this study are available on request from the corresponding author.


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We greatly appreciate the technical support of the Core Laboratory of the Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, and expert statistical analysis assistance from Tsung-Han Hsieh.


This study was supported by grants from Buddhist Tzu Chi Medical Foundation (TCMF-EP 111-02) and Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation (TCRD-TPE-112-02) to Y. L. Ko and Buddhist Tzu Chi Medical Foundation (TCMF-A 107-01-15) to L. K. Er.

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Correspondence to Yu-Lin Ko.

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Ethical approval

This study was approved by the Research Ethics Committee of Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation (approval numbers: 05-X04-007 and 10-XD-056) and the Ethics and Governance Council of the TWB (approval numbers: TWBR10507-02 and TWBR10611-03). Each participant was asked to sign an approved informed consent form.

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The authors declare no conflict of interest.

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Communicated by Fangqing Zhao.

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Ko, YL., Tuan, WL., Teng, MS. et al. SLC10A1 rs2296651 variant (S267F mutation) predicts biochemical traits, hepatitis B virus infection susceptibility and the risk of gallstone disease. Mol Genet Genomics 299, 62 (2024).

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