Interferon regulatory factor-1 polymorphisms are associated with the control of Plasmodium falciparum infection.


:We describe the haplotypic structure of the interferon regulatory factor-1 (IRF-1) locus in two West African ethnic groups, Fulani and Mossi, that differ in their susceptibility and immune response to Plasmodium falciparum malaria. Both populations showed significant associations between IRF-1 polymorphisms and carriage of P. falciparum infection, with different patterns of association that may reflect their different haplotypic architecture. Genetic variation at this locus does not therefore account for the Fulani-specific resistance to malaria while it could contribute to parasite clearance's ability in populations living in endemic areas. We then conducted a case-control study of three haplotype-tagging single nucleotide polymorphisms (htSNPs) in 370 hospitalised malaria patients (160 severe and 210 uncomplicated) and 410 healthy population controls, all from the Mossi ethnic group. All three htSNPs showed correlation with blood infection levels in malaria patients, and the rs10065633 polymorphism was associated with severe disease (P=0.02). These findings provide the first evidence of the involvement in malaria susceptibility of a specific locus within the 5q31 region, previously shown to be linked with P. falciparum infection levels.


Genes Immun


Genes and immunity


Mangano VD,Luoni G,Rockett KA,Sirima BS,Konaté A,Forton J,Clark TG,Bancone G,Sadighi Akha E,Kwiatkowski DP,Modiano D




Has Abstract


2008-03-01 00:00:00














  • Replication of the TNFSF4 (OX40L) promoter region association with systemic lupus erythematosus.

    abstract::The tumor necrosis factor ligand superfamily member 4 gene (TNFSF4) encodes the OX40 ligand (OX40L), a costimulatory molecule involved in T-cell activation. A recent study demonstrated the association of TNFSF4 haplotypes located in the upstream region with risk for or protection from systemic lupus erythematosus (SLE...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Delgado-Vega AM,Abelson AK,Sánchez E,Witte T,D'Alfonso S,Galeazzi M,Jiménez-Alonso J,Pons-Estel BA,Martin J,Alarcón-Riquelme ME

    更新日期:2009-04-01 00:00:00

  • Inhibitor of apoptosis proteins in human health and disease.

    abstract::The inhibitor of apoptosis proteins (IAPs) are best known for their ability to regulate cell survival and death processes. However, in addition to cell death, IAPs also act as innate immune sensors and modulate multiple pathways, such as autophagy and cell division. Many of these IAP functions are non-redundant even t...

    journal_title:Genes and immunity

    pub_type: 杂志文章,评审


    authors: Hrdinka M,Yabal M

    更新日期:2019-11-01 00:00:00

  • Transcriptome analysis of ankylosing spondylitis patients before and after TNF-α inhibitor therapy reveals the pathways affected.

    abstract::Tumor necrosis factor-α (TNF-α) inhibitors are highly effective in suppressing inflammation in ankylosing spondylitis (AS) patients, and operate by suppression of TFN-α and downstream immunological pathways. To determine the mechanisms of action of TNF-α inhibitors in AS patients, we used transcriptomic and bioinforma...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Wang XB,Ellis JJ,Pennisi DJ,Song X,Batra J,Hollis K,Bradbury LA,Li Z,Kenna TJ,Brown MA

    更新日期:2017-09-01 00:00:00

  • Modulation of cystic fibrosis lung disease by variants in interleukin-8.

    abstract::Cystic fibrosis pulmonary disease is characterized by excessive and prolonged inflammation. CF Pulmonary disease severity exhibits considerable variation that, to some extent, appears to be due to the presence of modifier genes. Several components of the inflammatory response are known to have altered regulation in th...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Hillian AD,Londono D,Dunn JM,Goddard KA,Pace RG,Knowles MR,Drumm ML,CF Gene Modifier Study Group.

    更新日期:2008-09-01 00:00:00

  • Interleukin 6 gene promoter polymorphism is not associated with Kawasaki disease.

    abstract::We examined the IL-6 gene promoter and detected several interesting promoter polymorphisms: GGGCTG insertion at +162 bp and G deletion at +168 bp positions (M1), A to G substitution at -594 bp (M2) of the reported IL-6 promoter sequence. Other rare variations were also observed at several positions: -583 bp (T inserti...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Sohn MH,Hur MW,Kim DS

    更新日期:2001-11-01 00:00:00

  • Identification, characterization, and evolution of a primate beta-defensin gene cluster.

    abstract::Defensins are members of a large diverse family of cationic antimicrobial peptides that share a signature pattern consisting of six conserved cysteine residues. Defensins have a wide variety of functions and their disruption has been implicated in various human diseases. Here we report the characterization of DEFB119-...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Radhakrishnan Y,Hamil KG,Yenugu S,Young SL,French FS,Hall SH

    更新日期:2005-05-01 00:00:00

  • Association of multiple sclerosis with ILT6 deficiency.

    abstract::Multiple sclerosis (MS) is an autoimmune disorder of multifactorial etiology. Family studies have shown strong genetic contributions. Linkage analyses have revealed several regions harboring risk genes including chromosome region 19q13. ILT6 is one of the most interesting candidate genes, since ILTs are involved in th...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Koch S,Goedde R,Nigmatova V,Epplen JT,Müller N,de Seze J,Vermersch P,Momot T,Schmidt RE,Witte T

    更新日期:2005-08-01 00:00:00

  • Novel SNPs in the CD18 gene validate the association with MPO-ANCA+ vasculitis.

    abstract::Wegener granulomatosis (WG), microscopic polyangiitis (MP), and Churg-Strauss syndrome (CSS) are characterized by the presence of anti-neutrophil cytoplasmic antibodies (ANCA). Anti-myeloperoxidase (MPO)-ANCA are a typical feature of MP and CSS, while anti-proteinase 3 (PRTN3)-ANCA are highly specific for WG. Several ...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Meller S,Jagiello P,Borgmann S,Fricke H,Epplen JT,Gencik M

    更新日期:2001-08-01 00:00:00

  • Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A*29-positive individuals.

    abstract::Birdshot chorioretinopathy (BCR), a chronic ocular inflammatory disease with characteristic choroidal lymphocytic infiltrates, has been strongly associated with human leukocyte antigen (HLA)-A29. Although HLA-A29 occurs frequently in all populations, BCR affects only a small percentage of HLA-A29-positive Caucasians, ...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Levinson RD,Du Z,Luo L,Monnet D,Tabary T,Brezin AP,Zhao L,Gjertson DW,Holland GN,Reed EF,Cohen JH,Rajalingam R

    更新日期:2008-04-01 00:00:00

  • RGMA and IL21R show association with experimental inflammation and multiple sclerosis.

    abstract::Rat chromosome 1 harbors overlapping quantitative trait loci (QTL) for cytokine production and experimental models of inflammatory diseases. We fine-dissected this region that regulated cytokine production, myelin oligodendrocyte glycoprotein (MOG)-induced experimental autoimmune encephalomyelitis (EAE), anti-MOG anti...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Nohra R,Beyeen AD,Guo JP,Khademi M,Sundqvist E,Hedreul MT,Sellebjerg F,Smestad C,Oturai AB,Harbo HF,Wallström E,Hillert J,Alfredsson L,Kockum I,Jagodic M,Lorentzen J,Olsson T

    更新日期:2010-06-01 00:00:00

  • Evidence for linkage to and association with type 1 diabetes at the 3q21 region in the Finnish population.

    abstract::IDDM9-region on chromosome 3q has shown suggestive evidence for linkage to type 1 diabetes in some but not all genome scans. We analyzed 22 microsatellite markers in 121 Finnish type 1 diabetes multiplex families across the IDDM9-region. Two-point maximum LOD scores of 3.4 and 2.5 were detected with markers D3S1589 an...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Laine AP,Turpeinen H,Veijola R,Hermann R,Simell O,Knip M,Ilonen J

    更新日期:2006-01-01 00:00:00

  • Polymorphisms within the PHF11 gene at chromosome 13q14 are associated with childhood atopic dermatitis.

    abstract::Atopic dermatitis is an increasingly common and debilitating childhood disorder that is often accompanied by asthma and allergic rhinitis. Although the pathology of these disorders is distinct, the majority of cases are atopic, typified by elevated serum IgE. A new locus at chromosome 13q14 centred on the genes SETDB2...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Jang N,Stewart G,Jones G

    更新日期:2005-05-01 00:00:00

  • The IDDM13 region containing the insulin-like growth factor binding protein-5 (IGFBP5) gene on chromosome 2q33-q36 and the genetic susceptibility to rheumatoid arthritis.

    abstract::We considered that the constitutive over-expression by cultured rheumatoid arthritis (RA) fibroblast-lineage synoviocytes of genes like IGFBP5 could indicate new candidate susceptibility genes. IGFBP5 is located in a region where an insulin-dependent diabetes mellitus (IDDM) susceptibility locus, IDDM13 (2q33-q36), ha...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Slager SL,Carleu L,Chung WK,Jackson T,Winchester RJ,Hodge SE,Gulko PS

    更新日期:2002-04-01 00:00:00

  • Anti-MOG antibodies are under polygenic regulation with the most significant control coming from the C-type lectin-like gene locus.

    abstract::Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system that is genetically complex. There is evidence supporting a role of myelin oligodendrocyte glycoprotein (MOG) humoral immunity in MS. We aimed to determine the genetic regulation of anti-MOG antibodies and their involvement in dise...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Flytzani S,Stridh P,Guerreiro-Cacais AO,Marta M,Hedreul MT,Jagodic M,Olsson T

    更新日期:2013-10-01 00:00:00

  • Temporal induction of immunoregulatory processes coincides with age-dependent resistance to viral-induced type 1 diabetes.

    abstract::The dilute plasma cytokine milieu associated with type 1 diabetes (T1D), while difficult to measure directly, is sufficient to drive transcription in a bioassay that uses healthy leukocytes as reporters. Previously, we reported disease-associated, partially IL-1 dependent, transcriptional signatures in both T1D patien...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Chen YG,Mordes JP,Blankenhorn EP,Kashmiri H,Kaldunski ML,Jia S,Geoffrey R,Wang X,Hessner MJ

    更新日期:2013-09-01 00:00:00

  • Complexity in the host response to Salmonella Typhimurium infection in AcB and BcA recombinant congenic strains.

    abstract::The host response to Salmonella infection is controlled by its genetic makeup. Using the mouse model of typhoid fever, several genes were found to influence the outcome of Salmonella infection, including Nramp1 (Slc11a1). In order to improve our knowledge of genetic determinants of the mouse response to acute Salmonel...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Roy MF,Riendeau N,Loredo-Osti JC,Malo D

    更新日期:2006-12-01 00:00:00

  • Mutations in RNA Polymerase III genes and defective DNA sensing in adults with varicella-zoster virus CNS infection.

    abstract::Recently, deficiency in the cytosolic DNA sensor RNA Polymerase III was described in children with severe primary varicella-zoster virus (VZV) infection in the CNS and lungs. In the present study we examined adult patients with VZV CNS infection caused by viral reactivation. By whole exome sequencing we identified mut...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Carter-Timofte ME,Hansen AF,Christiansen M,Paludan SR,Mogensen TH

    更新日期:2019-03-01 00:00:00

  • Prevalence and significance of mutations in the familial Mediterranean fever gene in patients with Crohn's disease.

    abstract::The concurrence of Crohn's disease (CD) and familial Mediterranean fever was repeatedly reported. In this study we determined the distribution and contribution of MEFV gene mutations to CD susceptibility and clinical heterogeneity. An Israeli cohort of 209 CD patients (120 men and 89 women) was investigated for mutati...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Karban A,Dagan E,Eliakim R,Herman A,Nesher S,Weiss B,Berkowitz D,Shamir R,Gershoni-Baruch R

    更新日期:2005-03-01 00:00:00

  • Evaluation of the TLR negative regulatory network in CVID patients.

    abstract::Common variable immunodeficiency (CVID), a clinically symptomatic primary immunodeficiency disease (PID), is characterized by hypogammaglobulinemia leading to recurrent infections and various complications. Recently, some defects in the signaling of TLRs have been identified in CVID patients which led us to investigat...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Sanaei R,Rezaei N,Aghamohammadi A,Delbandi AA,Teimourian S,Yazdani R,Tavasolian P,Kiaee F,Tajik N

    更新日期:2019-03-01 00:00:00

  • Elevated T cell levels in peripheral blood predict poor clinical response following rituximab treatment in new-onset type 1 diabetes.

    abstract::Biologic treatment of type 1 diabetes (T1D) with agents including anti-CD3 (otelixizumab and teplizumab), anti-CD20 (rituximab), LFA3Ig (alafacept), and CTLA4Ig (abatacept) results in transient stabilization of insulin C-peptide, a surrogate for endogenous insulin secretion. With the goal of inducing more robust immun...

    journal_title:Genes and immunity

    pub_type: 杂志文章,随机对照试验


    authors: Linsley PS,Greenbaum CJ,Rosasco M,Presnell S,Herold KC,Dufort MJ

    更新日期:2019-04-01 00:00:00

  • The human gene for mannan-binding lectin-associated serine protease-2 (MASP-2), the effector component of the lectin route of complement activation, is part of a tightly linked gene cluster on chromosome 1p36.2-3.

    abstract::The proteases of the lectin pathway of complement activation, MASP-1 and MASP-2, are encoded by two separate genes. The MASP1 gene is located on chromosome 3q27, the MASP2 gene on chromosome 1p36.23-31. The genes for the classical complement activation pathway proteases, C1r and C1s, are linked on chromosome 12p13. We...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Stover C,Endo Y,Takahashi M,Lynch NJ,Constantinescu C,Vorup-Jensen T,Thiel S,Friedl H,Hankeln T,Hall R,Gregory S,Fujita T,Schwaeble W

    更新日期:2001-05-01 00:00:00

  • Variation in the CTLA4 3'UTR has phenotypic consequences for autoreactive T cells and associates with genetic risk for type 1 diabetes.

    abstract::Cytotoxic T-lymphocyte-associated protein 4 (CTLA4) is a protein receptor that downregulates the immune system. CTLA4 gene variants associate with various autoimmune diseases, including type 1 diabetes. Fine mapping of the genetic risk has shown that the genomic region near CTLA4 marked by the single-nucleotide polymo...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: de Jong VM,Zaldumbide A,van der Slik AR,Laban S,Koeleman BP,Roep BO

    更新日期:2016-01-01 00:00:00

  • Allelic effects on gene regulation at the autoimmunity-predisposing CTLA4 locus: a re-evaluation of the 3' +6230G>A polymorphism.

    abstract::Genetic variation at a linkage disequilibrium block encompassing the cytotoxic T-lymphocyte antigen-4 (CTLA4) gene influences susceptibility to autoimmunity, but identifying the polymorphism(s) responsible for this effect has been challenging. Recently, a single-nucleotide polymorphism (SNP) located 3' to the known po...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Anjos SM,Shao W,Marchand L,Polychronakos C

    更新日期:2005-06-01 00:00:00

  • Longitudinal analysis of B cell repertoire and antibody gene rearrangements during early HIV infection.

    abstract::In chronically HIV infected individuals, a number of functional B cell abnormalities have been described. However, the immediate changes that occur in the B cell compartment following viral exposure and how they affect the long-term course of infection are not well understood. We report the longitudinal analysis of B ...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Elkins MK,Vittinghoff E,Baranzini SE,Hecht FM,Sriram U,Busch MP,Levy JA,Oksenberg JR,San Francisco Primary Infection Group.

    更新日期:2005-02-01 00:00:00

  • Investigation of the role of IL17A gene variants in Chagas disease.

    abstract::Human host genetic factors have been suggested to be determinants of the prevalence and clinical forms of Chagas disease. In this regard, IL-17A is believed to control parasitemia and protect against heart disease. In this work, we assessed whether IL17A gene polymorphisms are related to infection and/or development o...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Leon Rodriguez DA,Echeverría LE,González CI,Martin J

    更新日期:2015-12-01 00:00:00

  • Genome-wide expression analysis suggests unique disease-promoting and disease-preventing signatures in Pemphigus vulgaris.

    abstract::To evaluate pathogenetic mechanisms underlying disease development and progression in the autoimmune skin disease Pemphigus vulgaris (PV), we examined global peripheral blood gene expression in patients and healthy controls. Our goals were to: (1) assign blood gene expression signatures to patients and controls; (2) i...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Dey-Rao R,Seiffert-Sinha K,Sinha AA

    更新日期:2013-12-01 00:00:00

  • Independent contribution of HLA-DRB1 and TNF alpha promoter polymorphisms to the susceptibility to Crohn's disease.

    abstract::Although a number of studies reported the association of HLA-DRB1 and Crohn's disease (CD), the actual alleles associated with CD are considerably variable among populations. On the other hand, the relevance of tumor necrosis factor alpha (TNF alpha) in the pathogenesis of CD is established through experimental as wel...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Kawasaki A,Tsuchiya N,Hagiwara K,Takazoe M,Tokunaga K

    更新日期:2000-08-01 00:00:00

  • The rs4774 CIITA missense variant is associated with risk of systemic lupus erythematosus.

    abstract::The major histocompatibility complex (MHC) class II transactivator gene (CIITA) encodes an important transcription factor required for human leukocyte antigens (HLA) class II MHC-restricted antigen presentation. MHC genes, including the HLA class II DRB1*03:01 allele, are strongly associated with systemic lupus erythe...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Bronson PG,Goldstein BA,Ramsay PP,Beckman KB,Noble JA,Lane JA,Seldin MF,Kelly JA,Harley JB,Moser KL,Gaffney PM,Behrens TW,Criswell LA,Barcellos LF

    更新日期:2011-12-01 00:00:00

  • Surfing a genetic association interaction network to identify modulators of antibody response to smallpox vaccine.

    abstract::The variation in antibody response to vaccination likely involves small contributions of numerous genetic variants, such as single-nucleotide polymorphisms (SNPs), which interact in gene networks and pathways. To accumulate the bits of genetic information relevant to the phenotype that are distributed throughout the i...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Davis NA,Crowe JE Jr,Pajewski NM,McKinney BA

    更新日期:2010-12-01 00:00:00

  • The human G1m1 allotype associates with CD4+ T-cell responsiveness to a highly conserved IgG1 constant region peptide and confers an asparaginyl endopeptidase cleavage site.

    abstract::The human G1m1 allotype comprises two amino acids, D12 and L14, in the CH3 domain of IGHG1. Although the G1m1 allotype is prevalent in human populations, ~40% of Caucasiods are homozygous for the nG1m1 allotype corresponding to E12 and M14. Peptides derived from the G1m1 region were tested for their ability to induce ...

    journal_title:Genes and immunity

    pub_type: 杂志文章


    authors: Stickler MM,Reddy A,Xiong JM,Hinton PR,DuBridge R,Harding FA

    更新日期:2011-04-01 00:00:00