Bmc Medical Genetics

Functional polymorphism of the NFKB1 gene promoter is related to the risk of dilated cardiomyopathy Abstract Background: Previous studies in experimental and human heart failure showed that nuclear factor kappa B (NF-κB) is chronically activated in cardiac myocytes, suggesting an important involvement of NF-κB in the cardiac remodeling process. A common insertion/deletion (-94 insertion/deletion ATTG, rs28362491) located between two putative key promoter regulatory elements in the NFKB1 gene was identified which seems to be the first potential functional NFKB1 genetic variation. The main goal of the present investigation was to investigate the NFKB1-94 insertion/deletion ATTG polymorphism in relation to risk of dilated cardiomyopathy (DCM).

[1]  Liang‐Kung Chen,et al.  Hereditary hemorrhagic telangiectasia. , 2020, Zhonghua yi xue za zhi = Chinese medical journal; Free China ed.

[2]  W. Shen,et al.  Matrix metalloproteinase-1, -3, and -9 gene polymorphisms and the risk of idiopathic dilated cardiomyopathy in a Chinese Han population. , 2007, Clinical biochemistry.

[3]  H. Zhang,et al.  NFKB and NFKBI polymorphisms in relation to susceptibility of tumour and other diseases. , 2007, Histology and histopathology.

[4]  A. Andriulli,et al.  Evaluating the role of the genetic variations of PTPN22, NFKB1, and FcGRIIIA genes in inflammatory bowel disease: A meta‐analysis , 2007, Inflammatory bowel diseases.

[5]  Qiong Yang,et al.  A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study , 2007, BMC Medical Genetics.

[6]  Daniel Levy,et al.  A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study , 2007, BMC Medical Genetics.

[7]  R. D'Agostino,et al.  A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study , 2007, BMC Medical Genetics.

[8]  Sudha Seshadri,et al.  Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes , 2007, BMC Medical Genetics.

[9]  G. O'Connor,et al.  Framingham Heart Study genome-wide association: results for pulmonary function measures , 2007, BMC Medical Genetics.

[10]  Daniel Levy,et al.  Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness , 2007, BMC Medical Genetics.

[11]  Kari Stefansson,et al.  A common variant on chromosome 9p21 affects the risk of myocardial infarction. , 2007, Science.

[12]  Marcia M. Nizzari,et al.  Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels , 2007, Science.

[13]  M. McCarthy,et al.  Replication of Genome-Wide Association Signals in UK Samples Reveals Risk Loci for Type 2 Diabetes , 2007, Science.

[14]  J. Gulcher,et al.  A variant in CDKAL1 influences insulin response and risk of type 2 diabetes , 2007, Nature Genetics.

[15]  J. Haines,et al.  Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease. , 2007, American journal of human genetics.

[16]  Jonathan C. Cohen,et al.  A Common Allele on Chromosome 9 Associated with Coronary Heart Disease , 2007, Science.

[17]  T. Hudson,et al.  A genome-wide association study identifies novel risk loci for type 2 diabetes , 2007, Nature.

[18]  N. Gerry,et al.  Open-access database of candidate associations from a genome-wide SNP scan of the Framingham Heart Study , 2007, Nature Genetics.

[19]  Shu-Chun Lin,et al.  Functional polymorphism in NFKB1 promoter is related to the risks of oral squamous cell carcinoma occurring on older male areca (betel) chewers. , 2006, Cancer letters.

[20]  P. Bayrak-Toydemir,et al.  A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7 , 2006, American journal of medical genetics. Part A.

[21]  R. Shohet,et al.  Endogenous Endothelin-1 Is Required for Cardiomyocyte Survival In Vivo , 2006, Circulation.

[22]  B. Müller-Myhsok,et al.  Role of the NFKB1 −94ins/delATTG promoter polymorphism in IBD and potential interactions with polymorphisms in the CARD15/NOD2, IKBL, and IL‐1RN genes , 2006, Inflammatory bowel diseases.

[23]  A. Ganguly,et al.  Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype , 2006, Human mutation.

[24]  Alain Calender,et al.  Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients , 2006, Human mutation.

[25]  S. Gabriel,et al.  Common Genetic Variation in Five Thrombosis Genes and Relations to Plasma Hemostatic Protein Level and Cardiovascular Disease Risk , 2006, Arteriosclerosis, thrombosis, and vascular biology.

[26]  F. Hu,et al.  A Common Genetic Variant Is Associated with Adult and Childhood Obesity , 2006, Science.

[27]  Xiaoquan Wen,et al.  Coverage and Characteristics of the Affymetrix GeneChip Human Mapping 100K SNP Set , 2006, PLoS genetics.

[28]  W. Engel,et al.  Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations , 2006, Clinical genetics.

[29]  K. Hörmann,et al.  Hereditary hemorrhagic telangiectasia: an update on clinical manifestations and diagnostic measures , 2006, Wiener klinische Wochenschrift.

[30]  E. Coto,et al.  Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1 , 2006, Human mutation.

[31]  W. Ewens,et al.  What Is the Significance of a Significant TDT? , 2006, Human Heredity.

[32]  C. Fox,et al.  Sex and age specific effects of chromosomal regions linked to body mass index in the Framingham Study , 2006, BMC Genetics.

[33]  Javier Martín,et al.  Functional polymorphism of the NFKB1 gene promoter is not relevant in predisposition to celiac disease , 2006, Scandinavian journal of gastroenterology.

[34]  S. Shete,et al.  Examining the effect of linkage disequilibrium on multipoint linkage analysis , 2005, BMC Genetics.

[35]  J. Murabito,et al.  Sibling cardiovascular disease as a risk factor for cardiovascular disease in middle-aged adults. , 2005, JAMA.

[36]  J. Murabito,et al.  Genome-wide linkage analysis to age at natural menopause in a community-based sample: the Framingham Heart Study. , 2005, Fertility and sterility.

[37]  C. Mulder,et al.  A NFKB1 promoter polymorphism is involved in susceptibility to ulcerative colitis , 2005, International journal of immunogenetics.

[38]  D. Clayton,et al.  Population structure, differential bias and genomic control in a large-scale, case-control association study , 2005, Nature Genetics.

[39]  E. Benjamin,et al.  Genome scan of systemic biomarkers of vascular inflammation in the Framingham Heart Study: evidence for susceptibility loci on 1q. , 2005, Atherosclerosis.

[40]  D. Lindhout,et al.  Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia , 2005, Journal of Medical Genetics.

[41]  C. Shovlin,et al.  A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5 , 2005, Journal of Medical Genetics.

[42]  Javier Martín,et al.  A Functional Polymorphism of the NFKB1 Promoter Is Not Associated with Ulcerative Colitis in a Spanish Population , 2005, Inflammatory bowel diseases.

[43]  C. Schulte,et al.  High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients , 2005, Human mutation.

[44]  M. Letarte,et al.  Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease , 2005, Journal of Medical Genetics.

[45]  Jing Huang,et al.  Dynamic model based algorithms for screening and genotyping over 100K SNPs on oligonucleotide microarrays , 2005, Bioinform..

[46]  M. Manns,et al.  Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: Identification of five novel ALK1 and one novel ENG mutations , 2005, Human mutation.

[47]  Ning Chen,et al.  Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia , 2005, Human mutation.

[48]  Sanjay Shete,et al.  Ignoring linkage disequilibrium among tightly linked markers induces false-positive evidence of linkage for affected sib pair analysis. , 2004, American journal of human genetics.

[49]  D. Levy,et al.  Genomewide linkage analysis to serum creatinine, GFR, and creatinine clearance in a community-based population: the Framingham Heart Study. , 2004, Journal of the American Society of Nephrology : JASN.

[50]  D. Levy,et al.  Genome-Wide Scan for Pulse Pressure in the National Heart, Lung and Blood Institute’s Framingham Heart Study , 2004, Hypertension.

[51]  Ralph B D'Agostino,et al.  Parental atrial fibrillation as a risk factor for atrial fibrillation in offspring. , 2004, JAMA.

[52]  S. Pinson,et al.  Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France , 2004, Human mutation.

[53]  A. Rustgi,et al.  A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4) , 2004, The Lancet.

[54]  D. Kiel,et al.  Genetic contribution to biological aging: the Framingham Study. , 2004, The journals of gerontology. Series A, Biological sciences and medical sciences.

[55]  R. D'Agostino,et al.  Genomewide linkage analysis for internal carotid artery intimal medial thickness: evidence for linkage to chromosome 12. , 2004, American journal of human genetics.

[56]  Qiong Yang,et al.  Genetic analyses of longitudinal phenotype data: a comparison of univariate methods and a multivariate approach , 2003, BMC Genetics.

[57]  Qiong Yang,et al.  Description of the Framingham Heart Study data for Genetic Analysis Workshop 13 , 2003, BMC Genetics.

[58]  P. Bugert,et al.  The variable number of tandem repeat polymorphism in the P-selectin glycoprotein ligand-1 gene is not associated with coronary heart disease , 2003, Journal of Molecular Medicine.

[59]  P. Bugert,et al.  Optimized sensitivity of allele-specific PCR for prenatal typing of human platelet alloantigen single nucleotide polymorphisms. , 2003, BioTechniques.

[60]  C. Deber,et al.  Disease-associated mutations in conserved residues of ALK-1 kinase domain , 2003, European Journal of Human Genetics.

[61]  P. Wilson,et al.  A genome scan for loci linked to quantitative insulin traits in persons without diabetes: the Framingham Offspring Study , 2003, Diabetologia.

[62]  C. Angermann,et al.  Sustained activation of nuclear factor kappa B and activator protein 1 in chronic heart failure. , 2003, Cardiovascular research.

[63]  P. Wolf,et al.  Genetic and Environmental Contributions to Atherosclerosis Phenotypes in Men and Women: Heritability of Carotid Intima-Media Thickness in the Framingham Heart Study , 2003, Stroke.

[64]  Ralph B D'Agostino,et al.  Genomewide linkage analysis of body mass index across 28 years of the Framingham Heart Study. , 2002, American journal of human genetics.

[65]  D. Kiel,et al.  Genome Screen for Quantitative Trait Loci Contributing to Normal Variation in Bone Mineral Density: The Framingham Study , 2002, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[66]  D. Kiel,et al.  Evidence for Heritability of Abdominal Aortic Calcific Deposits in the Framingham Heart Study , 2002, Circulation.

[67]  J. Towbin,et al.  The failing heart , 2002, Nature.

[68]  G. Hansson,et al.  Nuclear factor kappa-B and the heart. , 2001, Journal of the American College of Cardiology.

[69]  D. Levy,et al.  Apolipoprotein E genotype and cardiovascular disease in the Framingham Heart Study. , 2001, Atherosclerosis.

[70]  P. Wilson,et al.  Parental transmission of type 2 diabetes: the Framingham Offspring Study. , 2000, Diabetes.

[71]  Anita L. DeStefano,et al.  Evidence for a Gene Influencing Blood Pressure on Chromosome 17: Genome Scan Linkage Results for Longitudinal Blood Pressure Phenotypes in Subjects From the Framingham Heart Study , 2000, Hypertension.

[72]  D. Jain,et al.  Liver disease in patients with hereditary hemorrhagic telangiectasia. , 2000, The New England journal of medicine.

[73]  R H Myers,et al.  Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3-qter: a genome-wide scan in the Framingham study. , 2000, Human molecular genetics.

[74]  Daniel Rabinowitz,et al.  A Unified Approach to Adjusting Association Tests for Population Admixture with Arbitrary Pedigree Structure and Arbitrary Missing Marker Information , 2000, Human Heredity.

[75]  P. Donahoe,et al.  Activin receptor-like kinase 1 modulates transforming growth factor-beta 1 signaling in the regulation of angiogenesis. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[76]  A. Guttmacher,et al.  Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). , 2000, American journal of medical genetics.

[77]  J. Kjeldsen,et al.  Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia , 2000, American Journal of Gastroenterology.

[78]  D. Marchuk,et al.  Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1. , 1999, Human molecular genetics.

[79]  C. Shovlin,et al.  Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms , 1999, Thorax.

[80]  U. Andersson,et al.  Cytokine expression in advanced human atherosclerotic plaques: dominance of pro-inflammatory (Th1) and macrophage-stimulating cytokines. , 1999, Atherosclerosis.

[81]  A. Matsumori,et al.  Prevention of myocardial reperfusion injury in rats by an antibody against monocyte chemotactic and activating factor/monocyte chemoattractant protein-1. , 1999, Laboratory investigation; a journal of technical methods and pathology.

[82]  M. Yokota,et al.  Association of a G994-->T missense mutation in the plasma platelet-activating factor acetylhydrolase gene with genetic susceptibility to nonfamilial dilated cardiomyopathy in Japanese. , 1998, Circulation.

[83]  R. Komorowski,et al.  Myocardial nuclear factor-kappaB activity and nitric oxide production in rejecting cardiac allografts. , 1998, Transplantation.

[84]  J R O'Connell,et al.  PedCheck: a program for identification of genotype incompatibilities in linkage analysis. , 1998, American journal of human genetics.

[85]  R H Myers,et al.  Evidence for association and genetic linkage of the angiotensin-converting enzyme locus with hypertension and blood pressure in men but not women in the Framingham Heart Study. , 1998, Circulation.

[86]  L. Almasy,et al.  Multipoint quantitative-trait linkage analysis in general pedigrees. , 1998, American journal of human genetics.

[87]  R. Peshock,et al.  Cardiac failure in transgenic mice with myocardial expression of tumor necrosis factor-alpha. , 1998, Circulation.

[88]  D. W. Johnson,et al.  The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. , 1997, American journal of human genetics.

[89]  J. Peschon,et al.  Accelerated Atherosclerosis in Mice Lacking Tumor Necrosis Factor Receptor p55* , 1996, The Journal of Biological Chemistry.

[90]  D. W. Johnson,et al.  Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2 , 1996, Nature Genetics.

[91]  B Maisch,et al.  Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. , 1996, Circulation.

[92]  W. Ewens,et al.  The transmission/disequilibrium test: history, subdivision, and admixture. , 1995, American journal of human genetics.

[93]  F. Collins,et al.  A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33–34 , 1994, Nature Genetics.

[94]  J. Hughes,et al.  A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3 , 1994, Nature Genetics.

[95]  F. Muntoni,et al.  Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. , 1993, The New England journal of medicine.

[96]  H. Plauchu,et al.  Hepatic involvement in hereditary hemorrhagic telangiectasia: clinical, radiological, and hemodynamic studies of 11 cases. , 1993, Gastroenterology.

[97]  J. Towbin,et al.  X‐Linked Dilated Cardiomyopathy Molecular Genetic Evidence of Linkage to the Duchenne Muscular Dystrophy (Dystrophin) Gene at the Xp21 Locus , 1993, Circulation.

[98]  W. Kannel,et al.  Parental history is an independent risk factor for coronary artery disease: the Framingham Study. , 1990, American heart journal.

[99]  J. Weber,et al.  Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. , 1989, American journal of human genetics.

[100]  S. Zeger,et al.  Longitudinal data analysis using generalized linear models , 1986 .

[101]  T. Nostrant,et al.  Clinical manifestations of hereditary hemorrhagic telangiectasia. , 1984, The American journal of gastroenterology.

[102]  T. H. Emigh.  On the number of observed classes from a multinomial distribution , 1983 .

[103]  T. Dawber.  The Framingham Study: The Epidemiology of Atherosclerotic Disease , 1980 .

[104]  W. Kannel,et al.  An investigation of coronary heart disease in families. The Framingham offspring study. , 1979, American journal of epidemiology.

[105]  W. Kannel,et al.  The Framingham Offspring Study. Design and preliminary data. , 1975, Preventive medicine.

[106]  W. Kannel,et al.  AN APPROACH TO LONGITUDINAL STUDIES IN A COMMUNITY: THE FRAMINGHAM STUDY , 1963, Annals of the New York Academy of Sciences.

[107]  T. Dawber,et al.  Epidemiological approaches to heart disease: the Framingham Study. , 1951, American journal of public health and the nation's health.

[108]  R Core Team,et al.  R: A language and environment for statistical computing. , 2014 .

[109]  N. Rahman,et al.  A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants , 2010 .

[110]  J. Honnorat,et al.  Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network , 2007, Genetics in Medicine.

[111]  Hong Zhang,et al.  Importance of polymorphisms in NF-kappaB1 and NF-kappaBIalpha genes for melanoma risk, clinicopathological features and tumor progression in Swedish melanoma patients. , 2007, Journal of cancer research and clinical oncology.

[112]  K. Lunetta,et al.  Estrogen Receptor (cid:1) Gene Variation Is Associated With Risk of Myocardial Infarction in More Than Seven Thousand Men From Five Cohorts , 2006 .

[113]  C. Schmid,et al.  Estrogen receptor-alpha variants are associated with lipoprotein size distribution and particle levels in women: the Framingham Heart Study. , 2006, Atherosclerosis.

[114]  N. Rabbee,et al.  A genotype calling algorithm for affymetrix SNP arrays , 2006, Bioinform..

[115]  T. Thom,et al.  American Heart Association Statistics Committee and Stroke Statistics Subcommittee : Heart disease and stroke statistical-2006 update : A report from the American Heart Association Statistics Committee and Stroke statistics subcommittee , 2006 .

[116]  A. Leonardi,et al.  NF-kappaB in solid tumors. , 2006, Biochemical pharmacology.

[117]  X. Adiconis,et al.  Genome-wide linkage analyses and candidate gene fine mapping for HDL 3 cholesterol: the Framingham Study , 2005 .

[118]  P. Concannon,et al.  Functional variants in SUMO4, TAB2, and NFkappaB and the risk of type 1 diabetes. , 2005, Genes and immunity.

[119]  The International HapMap Consortium.  A haplotype map of the human genome , 2005 .

[120]  B. Aggarwal.  Nuclear factor-kappaB: the enemy within. , 2004, Cancer Cell.

[121]  Judy H. Cho,et al.  Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis. , 2004, Human molecular genetics.

[122]  C. Schmid,et al.  Association between estrogen receptor alpha gene variation and cardiovascular disease. , 2003, Journal of the American Medical Association (JAMA).

[123]  Jennifer Y. Zhang,et al.  NF-kappaB blockade and oncogenic Ras trigger invasive human epidermal neoplasia. , 2003, Nature.

[124]  S. Kardia,et al.  Synergistic polymorphisms of beta1- and alpha2C-adrenergic receptors and the risk of congestive heart failure. , 2002, The New England journal of medicine.

[125]  P. Wilson,et al.  A genome-wide scan for loci linked to plasma levels of glucose and HbA(1c) in a community-based sample of Caucasian pedigrees: The Framingham Offspring Study. , 2002, Diabetes.

[126]  G. Abecasis,et al.  Merlin—rapid analysis of dense genetic maps using sparse gene flow trees , 2002, Nature Genetics.

[127]  Xin Xu,et al.  Implementing a unified approach to family‐based tests of association , 2000, Genetic epidemiology.

[128]  D. Marchuk,et al.  Endoglin, an ancillary TGFbeta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development. , 2000, Developmental biology.

[129]  Xianglin Shi,et al.  New insights into the role of nuclear factor-kappaB, a ubiquitous transcription factor in the initiation of diseases. , 1999, Clinical chemistry.

[130]  M J May,et al.  NF-kappa B and Rel proteins: evolutionarily conserved mediators of immune responses. , 1998, Annual review of immunology.

[131]  D. W. Johnson,et al.  Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online. , 1998, Human Mutation.

[132]  D. W. Johnson,et al.  Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1 , 1994, Nature Genetics.

[133]  D. Baltimore,et al.  Inducibility of kappa immunoglobulin enhancer-binding protein Nf-kappa B by a posttranslational mechanism. , 1986, Cell.

[134]  D. Gottlieb,et al.  Bmc Medical Genetics Genome-wide Association of Sleep and Circadian Phenotypes , 2022 .

[135]  R. Vasan,et al.  Bmc Medical Genetics Genome-wide Association to Body Mass Index and Waist Circumference: the Framingham Heart Study 100k Project , 2022 .

[136]  D. Kiel,et al.  Bmc Medical Genetics Genetic Correlates of Longevity and Selected Age-related Phenotypes: a Genome-wide Association Study in the Framingham Study , 2022 .