One small SNP for receptor virus entry, one giant leap for hepatitis B?

Rajoriya, Neil; Feld, Jordan J.

doi:10.1136/gutjnl-2015-311029

Cited by 4 publications

(2 citation statements)

References 19 publications

(27 reference statements)

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“…The S267F variant leads to NTCP deficiency, and its clinical manifestations include indirect hyperbilirubinemia and transient cholestatic jaundice [ 56 ]. Moreover, SLC10A1 serves as a receptor for the hepatitis B virus (HBV), and this variant can increase resistance to chronic hepatitis B [ 57 , 58 ]. Information from the GWAS catalog revealed that the rs2296651 mutation was associated with alterations in the levels of multiple metabolites, including glycocholic acid, low-density lipoprotein cholesterol, and total cholesterol.…”

Section: Resultsmentioning

confidence: 99%

Population genetic admixture and evolutionary history in the Shandong Peninsula inferred from integrative modern and ancient genomic resources

Su,

Wang,

et al. 2024

BMC Genomics

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Background Ancient northern East Asians (ANEA) from the Yellow River region, who pioneered millet cultivation, play a crucial role in understanding the origins of ethnolinguistically diverse populations in modern China and the entire landscape of deep genetic structure and variation discovery in modern East Asians. However, the direct links between ANEA and geographically proximate modern populations, as well as the biological adaptive processes involved, remain poorly understood. Results Here, we generated genome-wide SNP data for 264 individuals from geographically different Han populations in Shandong. An integrated genomic resource encompassing both modern and ancient East Asians was compiled to examine fine-scale population admixture scenarios and adaptive traits. The reconstruction of demographic history and hierarchical clustering patterns revealed that individuals from the Shandong Peninsula share a close genetic affinity with ANEA, indicating long-term genetic continuity and mobility in the lower Yellow River basin since the early Neolithic period. Biological adaptive signatures, including those related to immune and metabolic pathways, were identified through analyses of haplotype homozygosity and allele frequency spectra. These signatures are linked to complex traits such as height and body mass index, which may be associated with adaptations to cold environments, dietary practices, and pathogen exposure. Additionally, allele frequency trajectories over time and a haplotype network of two highly differentiated genes, ABCC11 and SLC10A1, were delineated. These genes, which are associated with axillary odor and bilirubin metabolism, respectively, illustrate how local adaptations can influence the diversification of traits in East Asians. Conclusions Our findings provide a comprehensive genomic dataset that elucidates the fine-scale genetic history and evolutionary trajectory of natural selection signals and disease susceptibility in Han Chinese populations. This study serves as a paradigm for integrating spatiotemporally diverse ancient genomes in the era of population genomic medicine.

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Section: Resultsmentioning

confidence: 99%

Population genetic admixture and evolutionary history in the Shandong Peninsula inferred from integrative modern and ancient genomic resources

Su,

Wang,

et al. 2024

BMC Genomics

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“…However, the present study has further supported the potential role of the SLC10A1 S267F variant in the loss of the activity to viral infection and no visible clue has suggested that HBV entry for subjects with the homozygous S267F is mediated by molecules other than NTCP. Therefore, it is critically important to clarify whether alternative molecules other than NTCP mediate the mechanism of HBV entry . The findings highlighted the role of NTCP in primary HBV infection and vertical transmission.…”

Section: Discussionmentioning

confidence: 99%

SLC10A1 S267F variant influences susceptibility to HBV infection and reduces cholesterol level by impairing bile acid uptake

Cheng

Wang

Tian

et al. 2019

Journal of Viral Hepatitis

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The SLC10A1 Ser267Phe (S267F) variant has been reported to severely inhibit hepatitis B virus (HBV) infection and taurocholate transport activity. This study aimed to clarify the effects of this variant on HBV infection and bile acid metabolism. SLC10A1 S267F was genotyped in 2907 HBV‐exposed subjects (including HBV persistent carriers and spontaneously recovered subjects) and 1364 unexposed subjects (HBV marker‐negative subjects), followed by replication I, comprising 914 exposed subjects and 1123 unexposed subjects, and replication II, comprising 355 children born to HBsAg‐positive mothers (226 HBV‐infected children and 129 controls). Intriguingly, SLC10A1 AA was observed only in the unexposed group, but not in the exposed group. The SLC10A1 A allele consistently decreased HBV infection risk compared with the G allele (OR = 0.76, 95% CI: 0.64‐0.90 in combined samples). In addition, children with the SLC10A1 GA genotype had a reduced risk of perinatal transmission (OR = 0.31, 95% CI: 0.14‐0.71). Moreover, unexposed subjects with the SLC10A1 AA genotype exhibited decreased serum total cholesterol and low‐density lipoprotein cholesterol compared to those with the GG or GA genotypes (P = 2.975 × 10−4 and 0.004, respectively). The study highlighted the role of the SLC10A1 S267F variant in the loss of the ability to support HBV infection and taurocholate transport activity. Subjects with the AA genotype may escape from HBV infection and present decreased cholesterol levels as a consequence of impaired bile acid uptake.

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The p.Ser267Phe variant of sodium taurocholate cotransporting polypeptide (NTCP) supports HBV infection with a low efficiency

Liu

Gao

et al. 2018

Virology

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One small SNP for receptor virus entry, one giant leap for hepatitis B?

Cited by 4 publications

References 19 publications

Population genetic admixture and evolutionary history in the Shandong Peninsula inferred from integrative modern and ancient genomic resources

Population genetic admixture and evolutionary history in the Shandong Peninsula inferred from integrative modern and ancient genomic resources

SLC10A1 S267F variant influences susceptibility to HBV infection and reduces cholesterol level by impairing bile acid uptake

The p.Ser267Phe variant of sodium taurocholate cotransporting polypeptide (NTCP) supports HBV infection with a low efficiency

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