A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk
Combined analyses of gene networks and DNA sequence variation can provide new insights into the aetiology of common diseases that may not be apparent from genome-wide association studies alone. Recent advances in rat genomics are facilitating systems-genetics approaches. Here we report the use of integrated genome-wide approaches across seven rat tissues to identify gene networks and the loci underlying their regulation. We defined an interferon regulatory factor 7 (IRF7)-driven inflammatory network (IDIN) enriched for viral response genes, which represents a molecular biomarker for macrophages and which was regulated in multiple tissues by a locus on rat chromosome 15q25. We show that Epst…
Genome-Wide Linkage Scan in a Moroccan Family With Autosomal-Recessive Exstrophy of the Bladder Identifies a Novel Susceptibility Locus on Chromosome 3p25.3
Purpose Exstrophy of the bladder (EB) is part of the bladder exstrophy-epispadias complex (BEEC) representing a spectrum of urogenital anomalies in which part or all of the distal urinary tract fail to close and are exposed on the outer abdominal wall. Familial occurrence is rare and previous studies are suggestive of an underlying multifactorial mode of inheritance. However, no causally related genetic or non-genetic factor has been identified so far. In this study, we aim to identify potential risk/modifying loci that might contribute to EB. Material and Methods A genome-wide linkage scan was performed in a consanguineous kindred of Moroccan origin where three affected males showed the sa…