Concordance of functional in vitro data and epidemiological associations in complex disease genetics (Q31061331)

28 June 2017

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title

Concordance of functional in vitro data and epidemiological associations in complex disease genetics (English)

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28 June 2017

1

John P A Ioannidis

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author name string

Fotini K Kavvoura

series ordinal

2

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PubMed ID

16980815

28 June 2017

language of work or name

English

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publication date

1 September 2006

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28 June 2017

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28 June 2017

8

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28 June 2017

583-593

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28 June 2017

9

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Finding genes that underlie complex traits

28 June 2017

1 reference

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Assessing the function of genetic variants in candidate gene association studies

21 January 2018

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How frequent is altered gene expression among susceptibility genes to human complex disorders?

21 January 2018

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The genetics of regulatory variation in the human genome

21 January 2018

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Genetic dissection of transcriptional regulation in budding yeast

21 January 2018

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Local regulatory variation in Saccharomyces cerevisiae

21 January 2018

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Genetics of gene expression surveyed in maize, mouse and man

21 January 2018

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Multiple locus linkage analysis of genomewide expression in yeast

21 January 2018

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Genome-wide associations of gene expression variation in humans

21 January 2018

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A variant insulin promoter in non-insulin-dependent diabetes mellitus

21 January 2018

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The International HapMap Project

21 January 2018

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A haplotype map of the human genome

21 January 2018

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Modulating influence on HIV/AIDS by interacting RANTES gene variants

21 January 2018

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Promoter polymorphism in PCK1 (phosphoenolpyruvate carboxykinase gene) associated with type 2 diabetes mellitus

21 January 2018

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Shear stress insensitivity of endothelial nitric oxide synthase expression as a genetic risk factor for coronary heart disease

21 January 2018

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Mutation screening of the macrophage migration inhibitory factor gene: positive association of a functional polymorphism of macrophage migration inhibitory factor with juvenile idiopathic arthritis

21 January 2018

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The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis

21 January 2018

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A single-nucleotide polymorphism in the human p27kip1 gene (-838C>A) affects basal promoter activity and the risk of myocardial infarction

21 January 2018

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A novel I-TAC promoter polymorphic variant is functional in the presence of replicating HCV in vitro.

21 January 2018

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Identification of a novel variant in the phosphoenolpyruvate carboxykinase gene promoter in Japanese patients with type 2 diabetes

21 January 2018

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Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis

21 January 2018

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Uteroglobin gene polymorphisms affect the progression of immunoglobulin A nephropathy by modulating the level of uteroglobin expression.

21 January 2018

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TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease

21 January 2018

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Analysis of genetic polymorphisms in the transforming growth factor-beta1 gene and the risk of Alzheimer's disease.

21 January 2018

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A polymorphism in the 5' untranslated region and a Met229-->Leu variant in exon 5 of the human UCP1 gene are associated with susceptibility to type II diabetes mellitus

21 January 2018

1 reference

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Association of a functional inducible nitric oxide synthase promoter variant with complications in type 2 diabetes

21 January 2018

1 reference

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Polymorphism in the 5'-flanking region of human glutamate-cysteine ligase modifier subunit gene is associated with myocardial infarction

21 January 2018

1 reference

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Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function

21 January 2018

1 reference

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Association between the 5' UTR variant C178T of the serotonin receptor gene HTR3A and bipolar affective disorder

21 January 2018

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An association study of asthma and total serum immunoglobin E levels for Toll-like receptor polymorphisms in a Japanese population.

21 January 2018

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The polymorphism interleukin 8 -251 A/T influences the susceptibility of Helicobacter pylori related gastric diseases in the Japanese population

21 January 2018

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Regulatory region variability in the human presenilin-2 (PSEN2) gene: potential contribution to the gene activity and risk for AD.

21 January 2018

1 reference

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The 3111 Clock gene polymorphism is not associated with sleep and circadian rhythmicity in phenotypically characterized human subjects.

21 January 2018

1 reference

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Intronic polymorphism (1541-1542delGT) of the constitutive heat shock protein 70 gene has functional significance and shows evidence of association with lung cancer risk.

21 January 2018

1 reference

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Identification of a novel type 1 diabetes susceptibility gene, T-bet

21 January 2018

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The E-cadherin -347G->GA promoter polymorphism and its effect on transcriptional regulation.

21 January 2018

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A functional polymorphism (-347 G-->GA) in the E-cadherin gene is associated with colorectal cancer

21 January 2018

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A family based association study of T102C polymorphism in 5HT2A and schizophrenia plus identification of new polymorphisms in the promoter.

21 January 2018

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A promoter haplotype of the immunoreceptor tyrosine-based inhibitory motif-bearing FcgammaRIIb alters receptor expression and associates with autoimmunity. I. Regulatory FCGR2B polymorphisms and their association with systemic lupus erythematosus.

21 January 2018

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Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia

21 January 2018

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The role of the TSC-22 (-396) A/G variant in the development of diabetic nephropathy

21 January 2018

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The -431C>T polymorphism of thymus and activation-regulated chemokine increases the promoter activity but is not associated with susceptibility to atopic dermatitis in Japanese patients.

21 January 2018

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A novel polymorphic CAAT/enhancer-binding protein beta element in the FasL gene promoter alters Fas ligand expression: a candidate background gene in African American systemic lupus erythematosus patients

21 January 2018

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A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity.

21 January 2018

1 reference

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'Racial' differences in genetic effects for complex diseases

21 January 2018

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A functional polymorphism in the promoter region of the dopamine D2 receptor gene is associated with schizophrenia

21 January 2018

1 reference

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Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR).

21 January 2018

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Characterization of polymorphic structure of cathepsin G gene: role in cardiovascular and cerebrovascular diseases

21 January 2018

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Tau haplotypes regulate transcription and are associated with Parkinson's disease.

21 January 2018

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Polymorphism in RANTES chemokine promoter affects HIV-1 disease progression

21 January 2018

1 reference

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Evolutionary conserved microsatellites in the promoter region of the 5-hydroxytryptamine receptor 2C gene (HTR2C) are not associated with bipolar disorder in females.

21 January 2018

1 reference

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Interferon-gamma receptor 1 promoter polymorphisms: population distribution and functional implications.

21 January 2018

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Allelic association and functional studies of promoter polymorphism in the leukotriene C4 synthase gene (LTC4S) in asthma

21 January 2018

1 reference

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Promoter polymorphism in the 5-lipoxygenase (ALOX5) and 5-lipoxygenase-activating protein (ALOX5AP) genes and asthma susceptibility in a Caucasian population

21 January 2018

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Evaluation of aldehyde dehydrogenase 1 promoter polymorphisms identified in human populations.

21 January 2018

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Functional MxA promoter polymorphism associated with subacute sclerosing panencephalitis.

21 January 2018

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Functionally significant SNP MMP8 promoter haplotypes and preterm premature rupture of membranes (PPROM).

21 January 2018

1 reference

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Analysis of heat-shock protein�70 gene polymorphisms and the risk of Parkinson?s disease

21 January 2018

1 reference

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Empirical evidence for selective reporting of outcomes in randomized trials: comparison of protocols to published articles

21 January 2018

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Association study designs for complex diseases

21 January 2018

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In vivo characterization of regulatory polymorphisms by allele-specific quantification of RNA polymerase loading

21 January 2018

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Predicting deleterious amino acid substitutions

21 January 2018

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Human non-synonymous SNPs: server and survey

21 January 2018

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The ENCODE (ENCyclopedia Of DNA Elements) Project

21 January 2018

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Functional analysis of human promoter polymorphisms.

21 January 2018

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Genetic associations: false or true?

21 January 2018

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Why most published research findings are false

21 January 2018

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Replication validity of genetic association studies

21 January 2018

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The CYP3A4*1B polymorphism has no functional significance and is not associated with risk of breast or ovarian cancer

21 January 2018

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A High Proportion of Chromosome 21 Promoter Polymorphisms Influence Transcriptional Activity

21 January 2018

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10.1097/01.GIM.0000237775.93658.0C

21 January 2018

Identifiers

DOI

1 reference

PubMed ID

16980815

Dimensions Publication ID

28 June 2017

0 references

1 reference

PubMed ID

16980815