Adaptation and validation of Richmond Compulsive Buying Scale in Chinese population

201901 bcrcVersion of RecordPublishe

A pilot MRI study of organ specific hemosiderosis and functional correlation in Chinese patients with myelodysplasia and aplastic anemia with raised ferritin levels

We performed MRI and endocrine assessment in 27 adult Chinese patients with severe aplastic anemia (SAA) and myelodysplasia (MDS). Despite high ferritin levels, cardiac hemosiderosis and heart failure was not common, and were not concordant in most cases. However, significant correlation was found between cardiac T2/T2* MRI assessment, ejection fraction and ferritin levels. Furthermore, there was a high incidence subclinical pancreatic abnormality that was related to liver MRI T2* readings. Hence, chelating agents may still have a role to improve organ function. Prospective data with serial functional and imaging monitoring is needed. Copyright © 2008 John Wiley & Sons, Ltd.link_to_subscribed_fulltex

Common genetic variants regulating ADD3 gene expression alter biliary atresia risk

Background & Aims Biliary atresia (BA) is a rare and most severe cholestatic disease in neonates, but the pathogenic mechanisms are unknown. Through a previous genome wide association study (GWAS) on Han Chinese, we discovered association of the 10q24.2 region encompassing ADD3 and XPNPEP1 genes, which was replicated in Chinese and Thai populations. This study aims to fully characterize the genetic architecture at 10q24.2 and to reveal the link between the genetic variants and BA. Methods We genotyped 107 single nucleotide polymorphisms (SNPs) in 10q24.2 in 339 Han Chinese patients and 401 matched controls using Sequenom. Exhaustive follow-up studies of the association signals were performed. Results The combined BA-association p-value of the GWAS SNP (rs17095355) achieved 6.06 × 10-10. Further, we revealed the common risk haplotype encompassing 5 tagging-SNPs, capturing the risk-predisposing alleles in 10q24.2 [p = 5.32 × 10-11; odds ratio, OR: 2.38; confidence interval, CI: (2.14-2.62)]. Through Sanger sequencing, no deleterious rare variants (RVs) residing in the risk haplotype were found, dismissing the theory of "synthetic" association. Moreover, in bioinformatics and in vivo genotype-expression investigations, the BA-associated potentially regulatory SNPs correlated with ADD3 gene expression (n = 36; p = 0.0030). Remarkably, the risk haplotype frequency coincides with BA incidences in the population, and, positive selection (favoring the derived alleles that arose from mutations) was evident at the ADD3 locus, suggesting a possible role for the BA-associated common variants in shaping the general population diversity. Conclusions Common genetic variants in 10q24.2 can alter BA risk by regulating ADD3 expression levels in the liver, and may exert an effect on disease epidemiology and on the general population. © 2013 European Association for the Study of the Liver. Published.link_to_subscribed_fulltex