Variations of ABCB4 and ABCB11 genes are associated with primary intrahepatic stones

Variations of ABCB4 and ABCB11 genes are associated with primary intrahepatic stones.

Variations of the ABCB4 and ABCB11 genes affect the composition of bile and are associated with cholestasis and cholelithiasis. However, their roles in the formation of primary intrahepatic stones (PIS) remains to be elucidated. The aim of the present study was to determine whether there is an association between PIS and variations in these genes. Exon sequencing was performed in order to analy...

Extracorporeal Shockwave Lithotripsy of Primary Intrahepatic Stones

Extracorporeal shockwave lithothripsy (ESWL) was performed in intrahepatic stone patients (n = 18) by Dornier MPL 9,000 with ultrasound guidance. The patients had T-tube (n = 9) or percutaneous transhepatic biliary drainage tube (n = 9). Average treatment session was four and shock-wave numbers were in the range of 3,064 to 12,000 (average 6,288 shocks). Intrahepatic stones were removed complet...

Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.

Identifying the genetic variants that regulate fasting glucose concentrations may further our understanding of the pathogenesis of diabetes. We therefore investigated the association of fasting glucose levels with SNPs in 2 genome-wide scans including a total of 5,088 nondiabetic individuals from Finland and Sardinia. We found a significant association between the SNP rs563694 and fasting gluco...

Combinations of variations in multiple genes are associated with hypertension.

The genetic analysis of hypertension has revealed complex and inconsistent results, making it difficult to draw clear conclusions regarding the impact of specific genes on blood pressure regulation in diverse human populations. Some of the confusion from previous studies is probably due to undetected gene-gene interactions. Instead of focusing on the effects of single genes on hypertension, we ...

are simple renal cysts in childhood associated with kidney stones?