Association of FXR gene variants with cholelithiasis.

摘要: Summary Background and aim Impairment of bile acid homeostasis is the most important risk factor gallstone disease. Thereby sensor farnesoid X receptor (FXR) plays a pivotal role in hepatic intestinal metabolism. In this explorative study, FXR gene was investigated to identify variants, associated with formation Caucasian population. Methods Sequencing conducted randomly selected cohort carriers (n = 30) control subjects (n = 16) from Stuttgart, Germany. Genomic DNA obtained blood leukocytes. Genotype frequencies were established total (controls: n = 133, carriers: n = 74). For expression analysis, RNA protein isolated ileal biopsies. Results The sequencing showed sole appearance 10 SNPs carriers. Further genotype analysis revealed significant gender- weight-dependent frequency differences 3 between controls males (rs35724: OR = 4.73, P = 0.022) normal weight (rs11110385: OR = 3.67, P = 0.027; rs11110386: P = 0.027) applying 11 + 12   22 allele model. Furthermore, rs11110385 significantly decreased (11 + 12   22: P = 0.003). Significant mRNA lean non-carriers observed target genes (decrease: ILBP: P = 0.042, OSTalpha: P = 0.071, FGF19: P = 0.011. Increase: LRH1: P = 0.044). Conclusions Three variants (rs35724, rs11110385, rs11110386) identified as potential susceptibility factors for cholelithiasis German manners. tag SNP seemed influence activation gene.