Abstract:
:Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using an enlarged follow-up sample (up to 10 260 cases and 23 500 controls). In addition to previously reported alleles in the major histocompatibility complex region, near neurogranin (NRGN) and in an intron of transcription factor 4 (TCF4), we find two novel variants showing genome-wide significant association: rs2312147[C], upstream of vaccinia-related kinase 2 (VRK2) [odds ratio (OR) = 1.09, P = 1.9 × 10(-9)] and rs4309482[A], between coiled-coiled domain containing 68 (CCDC68) and TCF4, about 400 kb from the previously described risk allele, but not accounted for by its association (OR = 1.09, P = 7.8 × 10(-9)).
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Steinberg S,de Jong S,Irish Schizophrenia Genomics Consortium.,Andreassen OA,Werge T,Børglum AD,Mors O,Mortensen PB,Gustafsson O,Costas J,Pietiläinen OP,Demontis D,Papiol S,Huttenlocher J,Mattheisen M,Breuer R,Vassos E,doi
10.1093/hmg/ddr325subject
Has Abstractpub_date
2011-10-15 00:00:00pages
4076-81issue
20eissn
0964-6906issn
1460-2083pii
ddr325journal_volume
20pub_type
杂志文章,meta分析abstract::Deficiency of the dysferlin protein presents as two major clinical phenotypes: limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. Dysferlin is known to participate in membrane repair, providing a potential hypothesis to the underlying pathophysiology of these diseases. The size of the dysferlin cDNA prevents...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddq065
更新日期:2010-05-15 00:00:00
abstract::Long non-coding RNAs (lncRNAs) are post-transcriptional and epigenetic regulators, whose implication in neurodegenerative and autoimmune diseases remains poorly understood. We analyzed publicly available microarray data sets to identify dysregulated lncRNAs in multiple sclerosis (MS), a neuroinflammatory autoimmune di...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddy438
更新日期:2019-05-01 00:00:00
abstract::The success of the human genome sequencing project has created wide-spread interest in exploring the human epigenome in order to elucidate how the genome executes the information it holds. Although all (nucleated) human cells effectively contain the same genome, they contain very different epigenomes depending upon ce...
journal_title:Human molecular genetics
pub_type: 杂志文章,评审
doi:10.1093/hmg/ddi110
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abstract::The genomic instability of persons with Bloom's syndrome (BS) features particularly an increased number of sister-chromatid exchanges (SCEs). The primary cause of the genomic instability is mutation at BLM, which encodes a DNA helicase of the RecQ family. BLM interacts with Topoisomerase IIIalpha (Topo IIIalpha), and ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/10.12.1287
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abstract::Beside the well-known polyglutamine expansions involved in several neurodegenerative disorders, convergent recent findings pointed to the expansion of polyalanine stretches as a disease mechanism in congenital malformations, skeletal dysplasia and nervous system anomalies. Polyalanine stretches have been predicted in ...
journal_title:Human molecular genetics
pub_type: 杂志文章,评审
doi:10.1093/hmg/ddh251
更新日期:2004-10-01 00:00:00
abstract::Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder, characterised by the association of branchial, otic and renal anomalies with variable degrees of severity. We have recently identified EYA1 , a human homologue of the Drosophila eyes absent gene, as the gene underlying this syndrome. The products of ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/6.13.2247
更新日期:1997-12-01 00:00:00
abstract::We studied the association between common haplotypes in six relevant lipid metabolism genes with plasma lipid levels. We selected single-nucleotide polymorphisms (SNPs) in the cholesterol ester transfer protein (CETP), lipoprotein lipase (LPL), hepatic triglyceride lipase (HL), low-density lipoprotein cholesterol rece...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/11.12.1477
更新日期:2002-06-01 00:00:00
abstract::Mutations in the WNK1 gene cause Gordon's syndrome, a rare Mendelian form of hypertension. We assessed whether common WNK1 variants might also contribute to essential hypertension (EH), a multifactorial disorder affecting > 25% of the adult population worldwide. A panel of 19 single nucleotide polymorphisms (SNPs) spa...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddi187
更新日期:2005-07-01 00:00:00
abstract::The protein ataxin-3 (ATX3) triggers an amyloid-related neurodegenerative disease when its polyglutamine stretch is expanded beyond a critical threshold. We formerly demonstrated that the polyphenol epigallocatechin-3-gallate (EGCG) could redirect amyloid aggregation of a full-length, expanded ATX3 (ATX3-Q55) towards ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddx211
更新日期:2017-09-01 00:00:00
abstract::Hexanucleotide repeat expansions within the C9orf72 gene are the most important genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The difficulty of developing a precise method to determine the expansion size has hampered the study of possible correlations between the hexanucleotid...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt460
更新日期:2014-02-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/11.24.3087
更新日期:2002-11-15 00:00:00
abstract::During mitosis, Kif11, a kinesin motor protein, promotes bipolar spindle formation and chromosome movement, and during interphase, Kif11 mediates diverse trafficking processes in the cytoplasm. In humans, inactivating mutations in KIF11 are associated with (1) retinal hypovascularization with or without microcephaly a...
journal_title:Human molecular genetics
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doi:10.1093/hmg/ddaa018
更新日期:2020-05-08 00:00:00
abstract::Complement receptor 1 (CR1) is an Alzheimer's disease (AD) susceptibility locus that also influences AD-related traits such as episodic memory decline and neuritic amyloid plaque deposition. We implemented a functional fine-mapping approach, leveraging intermediate phenotypes to identify functional variant(s) within t...
journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:2012-05-15 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:1994-01-01 00:00:00
abstract::Transcobalamin II (TC II) deficiency is a rare autosomal recessive disease leading to cobalamin (Cbl; Vitamin B12) deficiency characterized by failure to thrive, megaloblastic anemia, impaired immunodefence and neurological manifestations. By means of Southern blotting and sequence analysis of TC II cDNA amplified fro...
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doi:10.1093/hmg/3.10.1835
更新日期:1994-10-01 00:00:00
abstract::Genome-wide association studies of colorectal cancer (CRC) have identified a number of common variants associated with modest risk, including rs3802842 at chromosome 11q23.1. Several genes map to this region but rs3802842 does not map to any known transcribed or regulatory sequences. We reasoned, therefore, that rs380...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt584
更新日期:2014-04-15 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddi052
更新日期:2005-02-15 00:00:00
abstract::We have shown previously that AWT1 and WT1-AS are functionally imprinted in human kidney. In the adult kidney, expression of both transcripts is restricted to the paternal allele, with the silent maternal allele retaining methylation at the WT1 antisense regulatory region (WT1 ARR). Here, we report characterization of...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddl478
更新日期:2007-02-01 00:00:00
abstract::Genome-wide association studies have identified susceptibility loci for esophageal squamous cell carcinoma (ESCC). We conducted a meta-analysis of all single-nucleotide polymorphisms (SNPs) that showed nominally significant P-values in two previously published genome-wide scans that included a total of 2961 ESCC cases...
journal_title:Human molecular genetics
pub_type: 杂志文章,meta分析
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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pub_type: 杂志文章
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journal_title:Human molecular genetics
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更新日期:2015-05-15 00:00:00
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journal_title:Human molecular genetics
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abstract::Niemann-Pick type C (NPC) disease is a fatal recessively inherited lysosomal cholesterol-sphingolipidosis. Mutations in the NPC1 gene cause approximately 95% of the cases, the rest being caused by NPC2 mutations. Here the molecular basis of a severe infantile form of the disease was dissected. The level of NPC1 protei...
journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
pub_type: 杂志文章
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