A variant of the SLC10A2 gene encoding the apical sodium-dependent bile acid transporter is a risk factor for gallstone disease.

摘要: Background: Cholelithiasis is a multifactorial process and several mechanisms of gallstone formation have been postulated. As one these mechanisms, decreased expression the ileal apical sodium-dependent bile acid transporter gene SLC10A2 in carriers was described previously. In this study investigated to identify novel genetic variants their association with formation. Methodology/Principal Findings: Study subjects were selected presence or absence gallstones confirmed by ultrasound medical history. Genomic DNA obtained from blood leukocytes. Sequence analysis performed all six exonic flanking regions as well 2,400 base pairs promoter cohort control Stuttgart, Germany. Genotype frequencies newly identified (n=6) known single nucleotide polymorphisms (n=24) established using MALDI-TOF mass spectrometry. Six new found within gene. Although none linked disease Stuttgart overall, minor allele SNP rs9514089 more prevalent male non-obese (p=0.06680, OR=11.00). separate population Aachen, Germany, occurrence two-fold higher patients (22%) than corresponding controls (11%) (p=0.00995, OR=2.19). pooled Aachen/Stuttgart highly significantly cholelithiasis (p=0.00767, OR=2.04). A frequent observed for compared (9%) (p=0.01017, OR=2.99), total normal weight group (p=0.00754, OR=2.90), (p=0.01410, OR=6.85). Moreover, an low plasma cholesterol levels especially (p=0.05). Conclusions/Significance: We susceptibility humans. Comprehensive statistical provides strong evidence that determinant nonobese carriers. The related differences among subjects.