Abstract:
:Genome-wide association studies (GWASs) of renal cell cancer (RCC) have identified four susceptibility loci thus far. To identify an additional RCC common susceptibility locus, we conducted a GWAS and performed a meta-analysis with published GWASs (totalling 2215 cases and 8566 controls of European background) and followed up the most significant association signals [nine single nucleotide polymorphisms (SNPs) in eight genomic regions] in 3739 cases and 8786 controls. A combined analysis identified a novel susceptibility locus mapping to 2q22.3 marked by rs12105918 (P = 1.80 × 10(-8); odds ratio 1.29, 95% CI: 1.18-1.41). The signal localizes to intron 2 of the ZEB2 gene (zinc finger E box-binding homeobox 2). Our findings suggest that genetic variation in ZEB2 influences the risk of RCC. This finding provides further insights into the genetic and biological basis of inherited genetic susceptibility to RCC.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Henrion M,Frampton M,Scelo G,Purdue M,Ye Y,Broderick P,Ritchie A,Kaplan R,Meade A,McKay J,Johansson M,Lathrop M,Larkin J,Rothman N,Wang Z,Chow WH,Stevens VL,Ryan Diver W,Gapstur SM,Albanes D,Virtamo J,Wu X,Bredoi
10.1093/hmg/dds489subject
Has Abstractpub_date
2013-02-15 00:00:00pages
825-31issue
4eissn
0964-6906issn
1460-2083pii
dds489journal_volume
22pub_type
杂志文章,meta分析abstract::Polyglutamine (polyQ) diseases are a growing class of inherited neurodegenerative diseases including Huntington's disease, which are caused by abnormal expansions of the polyQ stretch in each unrelated disease protein. The expanded polyQ stretch is thought to confer toxic properties on the disease proteins through alt...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddg144
更新日期:2003-06-01 00:00:00
abstract::Since recombinant adeno-associated virus (rAAV) was first described as a potential mammalian cell transducing system, frequent reports purportedly solving the problems of scalable production have appeared. Yet few of these processes have enabled the development of robust and economical rAAV production. Two production ...
journal_title:Human molecular genetics
pub_type: 杂志文章,评审
doi:10.1093/hmg/ddr141
更新日期:2011-04-15 00:00:00
abstract::We have constructed a YAC contig containing 54 clones and a minimum of 7 Mbp of human DNA, that maps to bands q34-35 on chromosome 5. The contig was nucleated using FISH mapped cosmid clones shown to flank the t(2;5)(p23;q35) translocation breakpoint in a CD30-positive large cell lymphoma cell line. Thirty of the 54 Y...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/3.1.99
更新日期:1994-01-01 00:00:00
abstract::Distal arthrogryposis (DA) is a heterogeneous subgroup of arthrogryposis multiplex congenita (AMC), a large family of disorders characterized by multiple congenital joint limitations due to reduced fetal movements. DA is mainly characterized by contractures afflicting especially the distal extremities without overt mu...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/dds514
更新日期:2013-04-15 00:00:00
abstract::Genomic DNA from 19 Japanese patients with congenital lipoid adrenal hyperplasia (lipoid CAH) representing 16 different families was examined to identify the genetic alterations of steroidogenic acute regulatory protein (StAR). Ten of 19 patients had a 46,XX karyotype and nine had a 46,XY karyotype. Six of the 46,XX p...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/6.4.571
更新日期:1997-04-01 00:00:00
abstract::According to the telomere hypothesis of senescence, the progressive shortening of telomeres that occurs upon division of normal somatic cells eventually leads to cellular senescence. The immortalisation of human cells is associated with the acquisition of a telomere maintenance mechanism which is usually dependent upo...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/6.6.921
更新日期:1997-06-01 00:00:00
abstract::PTEN, a tumor suppressor phosphatase that dephosphorylates both protein and lipid substrates, is mutated in both heritable and sporadic breast cancer. Until recently, PTEN-mediated cell cycle arrest and apoptosis were thought to occur through its well-documented cytoplasmic activities. We have shown that PTEN localize...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddl177
更新日期:2006-09-01 00:00:00
abstract::Missense mutations (K141N and K141E) in the alpha-crystallin domain of the small heat shock protein HSPB8 (HSP22) cause distal hereditary motor neuropathy (distal HMN) or Charcot-Marie-Tooth neuropathy type 2L (CMT2L). The mechanism through which mutant HSPB8 leads to a specific motor neuron disease phenotype is curre...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddq234
更新日期:2010-08-15 00:00:00
abstract::Multiple research groups have observed neuropathological phenotypes and molecular symptoms in vitro using induced pluripotent stem cell (iPSC)-derived neural cell cultures (i.e. patient-specific neurons and glia). However, the global differences/similarities that may exist between in vitro neural cells and their tissu...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt208
更新日期:2013-09-01 00:00:00
abstract::Mutations of mitochondrial DNA are linked to many human diseases. Despite the identification of a large number of variants in the mitochondrially encoded rRNA (mt-rRNA) genes, the evidence supporting their pathogenicity is, at best, circumstantial. Establishing the pathogenicity of these variations is of major diagnos...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt490
更新日期:2014-02-15 00:00:00
abstract::Dominant mutations in the mitochondrial paralogs coiled-helix-coiled-helix (CHCHD) domain 2 (C2) and CHCHD10 (C10) were recently identified as causing Parkinson's disease and amyotrophic lateral sclerosis/frontotemporal dementia/myopathy, respectively. The mechanism by which they disrupt mitochondrial cristae, however...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddaa077
更新日期:2020-06-03 00:00:00
abstract::Adolescent idiopathic scoliosis (AIS) is a complex inherited spinal deformity whose etiology has been elusive. While common genetic variants are associated with AIS, they explain only a small portion of disease risk. To explore the role of rare variants in AIS susceptibility, exome sequence data of 391 severe AIS case...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddv463
更新日期:2016-01-01 00:00:00
abstract::Gene amplification plays a critical role in tumor progression. Hence, understanding the factors triggering this process in human cancers is an important concern. Unfortunately, the structures formed at early stages are usually unavailable for study, hampering the identification of the initiating events in tumors. Here...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/11.23.2887
更新日期:2002-11-01 00:00:00
abstract::Monozygotic twin and other epidemiologic studies indicate that epigenetic processes may play an important role in the pathogenesis of inflammatory bowel diseases that commonly affect the colonic mucosa. The peak onset of these disorders in young adulthood suggests that epigenetic changes normally occurring in the colo...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddq095
更新日期:2010-06-01 00:00:00
abstract::FcgRIIa and FcgRIIIa are potent modulators of the immune system which bind (auto)antibodies and activate immune cells. The FcgRIIa*A519G and FcgRIIIa*A559C functional variants have been associated with several immune-related diseases. We studied FcgRIIa*A519G and FcgRIIIa*A559C SNPs in type 1 diabetes (T1D), celiac di...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddm194
更新日期:2007-11-01 00:00:00
abstract::The rate-limiting step of dietary calcium absorption in the intestine requires the brush border calcium entry channel TRPV6. The TRPV6 gene was completely sequenced in 170 renal calcium stone patients. The frequency of an ancestral TRPV6 haplotype consisting of three non-synonymous polymorphisms (C157R, M378V, M681T) ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddn048
更新日期:2008-06-01 00:00:00
abstract::Dominant mutations in the gene encoding the ubiquitously-expressed splicing factor PRPF31 cause retinitis pigmentosa, a form of hereditary retinal degeneration, with reduced penetrance. We and others have previously shown that penetrance is tightly correlated with PRPF31 expression, as lymphoblastoid cell lines (LCLs)...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddn212
更新日期:2008-10-15 00:00:00
abstract::The human chr15q11-q13 imprinted cluster is linked to several disorders, including Prader-Willi (PWS) and Angelman (AS) syndromes. Recently, disease modeling approaches based on induced pluripotent stem cells (iPSCs) have been used to study these syndromes. A concern regarding the use of these cells for imprinted dise...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddy274
更新日期:2018-12-01 00:00:00
abstract::The transcription factor SOX10 is mutated in the human neurocristopathy Waardenburg-Shah syndrome (WS4), which is characterized by enteric aganglionosis and pigmentation defects. SOX10 directly regulates genes expressed in neural crest lineages, including the enteric ganglia and melanocytes. Although some SOX10 target...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddi442
更新日期:2006-01-15 00:00:00
abstract::Proximal spinal muscular atrophy (SMA) is caused by mutations in the survival motor neuron gene (SMN1). In humans, two nearly identical copies of SMN exist and differ only by a single non-polymorphic C-->T nucleotide transition in exon 7. SMN1 contains a 'C' nucleotide at the +6 position of exon 7 and produces primari...
journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:2001-11-01 00:00:00
abstract::Epidermolytic hyperkeratosis (EHK) is a blistering skin disease inherited as an autosomal-dominant trait. The disease is caused by genetic defects of the epidermal keratin K1 or K10, leading to an impaired tonofilament network of differentiating epidermal cells. Here, we describe for the first time a kindred with rece...
journal_title:Human molecular genetics
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abstract::Amyotrophic lateral sclerosis (ALS) is a progressive motor neurodegeneration resulting in paralysis and death from respiratory failure within 3-5 years. About 20% of familial cases are associated with mutations in the gene for copper/zinc superoxide dismutase ( SOD1 ), which catalyses the dismutation of the superoxide...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/7.13.2045
更新日期:1998-12-01 00:00:00
abstract::Mutations in the NF1 tumor suppressor gene cause Neurofibromatosis type 1 (NF1). Neurofibromin, the protein product of NF1, functions as a negative regulator of Ras activity. Some NF1 patients develop cardiovascular disease, which represents an underrecognized disease complication and contributes to excess morbidity a...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/dds502
更新日期:2013-03-01 00:00:00
abstract::Ryanodine receptor type I (RYR1)-related myopathies (RYR1 RM) are a clinically and histopathologically heterogeneous group of conditions that represent the most common subtype of childhood onset non-dystrophic muscle disorders. There are no treatments for this severe group of diseases. A major barrier to therapy devel...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddz105
更新日期:2019-09-15 00:00:00
abstract::Multicentric chromosomes are often found in tumor cells and certain cell lines. How they are generated is not fully understood, though their stability suggests that they are non-functional during chromosome segregation. Growing evidence has implicated microtubule motor proteins in attachment of chromosomes to the mito...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/7.4.671
更新日期:1998-04-01 00:00:00
abstract::Pathological modifications in the microtubule-associated protein Tau is a common characteristic observed in different neurological diseases, suggesting that analogous metabolic pathways might be similarly affected during neurodegeneration. To identify these molecules and mechanisms, we utilized Drosophila models of hu...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddu393
更新日期:2014-12-20 00:00:00
abstract::Chromosomal common fragile sites (CFSs) are genetically unstable regions of the genome that are induced by conditions that impair DNA replication. In this report, we show that treatment with the DNA polymerase inhibitor, aphidicolin (APH), slows the replication rate throughout S phase. To investigate the unusual sensi...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddp470
更新日期:2010-01-01 00:00:00
abstract::SPEG, a member of the myosin light chain kinase family, is localized at the level of triad surrounding myofibrils in skeletal muscles. In humans, SPEG mutations are associated with centronuclear myopathy and cardiomyopathy. Using a striated muscle specific Speg-knockout (KO) mouse model, we have previously shown that ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddaa276
更新日期:2020-12-23 00:00:00
abstract::The parent of origin-dependent expression of the IGF2 and H19 genes is controlled by the imprinting centre 1 (IC1) consisting in a methylation-sensitive chromatin insulator. Deletions removing part of IC1 have been found in patients affected by the overgrowth- and tumour-associated Beckwith-Wiedemann syndrome (BWS). T...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddn031
更新日期:2008-05-15 00:00:00
abstract::Biallelic loss-of-function mutations in the RNA-binding protein EIF4A3 cause Richieri-Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by craniofacial and limb malformations. However, the pathogenic cellular mechanisms responsible for this syndrome are entirely unknown. Here, we use...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddx078
更新日期:2017-06-15 00:00:00