\n\nMethod: Serum sex steroid level including E2, estrone (E1) and testosterone (T), of 1402 Chinese men aged : 65 years were analyzed. Genotyping of the two CYP19A1 SNPs was performed using T(m)-shift allele-specific PCR.\n\nResults: SNP rs2899470 was significantly associated with serum E2, El levels and E2/T ratio (p<0.001). However, SNP rs2470152 was only modestly associated with E2/T ratio (p=0.023). Analysis of haplotype showed a significant association between C-G, T-T haplotype with serum E2/T ratio (p=0.019 and p=1 x 10(-5), respectively). Similarly, E2 levels was also associated the T-T and T-G haplotypes (p= 1 x 10(-5)).\n\nConclusion: The genetic variation of CYP19A1

was associated with circulating estrogen levels in Chinese elderly CA4P solubility dmso men. In addition, it revealed that haplotype of rs2899470 and rs2470152, rather than rs2899470 alone, was a better indicator for the serum E2/T ratio and E2 levels. (C) 2009 Elsevier B.V. All rights reserved.”
“Objective: The aims of the present study was to study the significance of ABCB4 mutations in mainland Chinese children with chronic

intrahepatic cholestasis and to correlate genetic findings with clinical features and response to ursodeoxycholic acid (UDCA) therapy.\n\nMethods: Thirteen GW4869 supplier patients with chronic intrahepatic cholestasis and elevated serum gamma-glutamyl transpeptidase activity of unknown cause were enrolled in a single pediatric center. All of the encoding exons and flanking areas of ABCB4 were sequenced.

Available liver biopsy specimens were immunostained for multidrug resistance protein 3. The clinical features, biochemical parameters, selleck chemical and responses to therapy were compared with patients with or without ABCB4 mutation(s).\n\nResults: Six different ABCB4 mutations were identified in 3 patients; each patient was a compound heterozygote. Apart from c. 139C>T (p.R47X), all were novel, including c. 344+2_+3insT, c.1376A>G (p.D459G), c.1745G>A (p.R582Q), c.2077_2078delC (p.P693HfsX698), and c.3825_3826delA (p.M1276WfsX1308). Absent or reduced multidrug resistance protein 3 canalicular immunostaining was demonstrated in patients with ABCB4 mutations. Serum total bile acid levels were higher in patients with ABCB4 mutations than in patients without ABCB4 mutations (352.5 +/- 97.0 vs 55.9 +/- 50.4 mu mol/L, P = 7.32E-05). There was no difference in other biochemical parameters between patients with and without ABCB4 mutations. After oral UDCA administration in 3 patients with ABCB4 mutations, pruritus disappeared, growth improved, spleen size decreased, and platelet counts increased. In the 10 patients without ABCB4 mutations, an inconsistent response to UDCA therapy was observed.\n\nConclusions: In mainland Chinese children, some cases of chronic intrahepatic cholestasis with high gamma-glutamyl transpeptidase could be attributed to ABCB4 mutations.