Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations
CLINICAL CASE REPORTS
Authors: Nasirnejad Sola, Farzaneh; Morovvati, Saeid; Sabetghadam Moghadam, Mitra; Entezari, Malihe
Abstract
This investigation facilitates a better understanding of inhibitor development, the critical treatment morbidity in HA patients. Furthermore, six novel mutations are reported, which would expand the mutation spectrum of the F8 gene.
eQTL analysis from co-localization of 2739 GWAS loci detects associated genes across 14 human cancers
JOURNAL OF THEORETICAL BIOLOGY
Authors: Li, Weidong; Zhou, Qingniao; Gao, Yong; Jiang, Yonghua; Huang, Yuanjie; Mo, Zengnan; Zou, Yiming; Hu, Yanling
Abstract
Genetic variants can predict other "linked" diseases because alterations in one or more genes in vivo may affect relevant phenotype properties. Our study systematically explored the pan-cancer common gene and cancer type-specific genes based on GWAS loci and TCGA data of multiple cancers. It was found that there were 17 SNPs were significantly associated with the expression of 18 genes. Associations between the 18 cis-regulatory genes and the pathologic stage of each cancer showed that MYL2 and PTGFR in HNSC, 4 genes (F8, SATB2, G6PD and UGT1A6) in KIRP, 3 genes (CHMP4C, MAP3K1 and MECP2) in LUAD were all strongly associated with cancer stage levels. Additionally, the survival association analysis showed that SATB2 was correlated with HNSC survival, and MPP1 was strongly associated with the survival of SARC. This study will shed light on the biological pathways involved in cancer-genetic associations, and has the potential to be applied to the predictions of the risk of cancers developing in healthy individuals. (C) 2018 Elsevier Ltd. All rights reserved.