16 results match your criteria il9 haplotype

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Genetic association analysis between IL9 and coronary artery disease in a Chinese Han population.

Cytokine 2021 Nov 20;150:155761. Epub 2021 Nov 20.

Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China. Electronic address:

Interleukin-9 (IL-9) plays important role in coronary artery disease (CAD). However, the exact relationship between them is not explored yet. Here, four tag SNPs covering IL9 (rs31563, rs2069868, rs2069870 and rs31564) were selected to conduct case-control association analyses in a total of 3704 individuals from Chinese Han population (1863 CAD vs 1841 control). Read More

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November 2021

Th2 cell regulatory and effector molecules single nucleotide polymorphisms and periodontitis.

J Leukoc Biol 2020 11 3;108(5):1641-1654. Epub 2020 Aug 3.

Faculty of Dentistry, The University of Hong Kong, Hong Kong SAR, China.

To investigate the association between T helper 2 (Th2) cell regulatory and effector molecules' genetic polymorphisms and periodontitis. Single nucleotide polymorphisms (SNPs) of 11 Th2 cell regulatory or effector molecules genes (CD28, CTLA4, IL4, IL5, IL6, IL9, IL10, IL13, IL4R, GATA3, STAT6, and rs1537415; total 130 SNPs) were studied in Chinese nonsmokers (163 periodontitis-free controls, 141 periodontitis patients) using Sequenom iPlex assays. SNPs potentially associated with periodontitis (adjusted allelic P < 0. Read More

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November 2020

A chromosome 5q31.1 locus associates with tuberculin skin test reactivity in HIV-positive individuals from tuberculosis hyper-endemic regions in east Africa.

PLoS Genet 2017 Jun 19;13(6):e1006710. Epub 2017 Jun 19.

Centro di Ricerca, Ospedale San Pietro Fatebenefratelli, Rome, Italy.

One in three people has been infected with Mycobacterium tuberculosis (MTB), and the risk for MTB infection in HIV-infected individuals is even higher. We hypothesized that HIV-positive individuals living in tuberculosis-endemic regions who do not get infected by Mycobacterium tuberculosis are genetically resistant. Using an "experiment of nature" design that proved successful in our previous work, we performed a genome-wide association study of tuberculin skin test positivity using 469 HIV-positive patients from prospective study cohorts of tuberculosis from Tanzania and Uganda to identify genetic loci associated with MTB infection in the context of HIV-infection. Read More

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Genetically Determined MBL Deficiency Is Associated with Protection against Chronic Cardiomyopathy in Chagas Disease.

PLoS Negl Trop Dis 2016 Jan 8;10(1):e0004257. Epub 2016 Jan 8.

Laboratório de Imunopatologia Molecular-Departamento de Patologia Médica, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brasil.

Chagas disease (CD) is caused by Trypanosoma cruzi, whose sugar moieties are recognized by mannan binding lectin (MBL), a soluble pattern-recognition molecule that activates the lectin pathway of complement. MBL levels and protein activity are affected by polymorphisms in the MBL2 gene. We sequenced the MBL2 promoter and exon 1 in 196 chronic CD patients and 202 controls. Read More

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January 2016

The 5q31 region in two African populations as a facet of natural selection by infectious diseases.

Genetika 2013 Feb;49(2):279-88

Unit of Disease and Diversity, Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.

Cases of extreme natural selection could lead either to rapid fixation or extinction of alleles depending on the population structure and size. It may also manifest in excess of heterozygosity and the locus concerned will be displaying such drastic features of allele change. We suspect the 5q31 in chromosome 5 to mirror situation of such extreme natural selection particularly that the region encompasses genes of type 2 cytokine known to associate with a number of infectious and non-infectious diseases. Read More

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February 2013

Chromosome 5q candidate genes in coeliac disease: genetic variation at IL4, IL5, IL9, IL13, IL17B and NR3C1.

Tissue Antigens 2005 Feb;65(2):150-5

Department of Clinical Medicine, Trinity College, Trinity Centre for Health Sciences, St James's Hospital, Dublin 8, Ireland.

Genetic predisposition to coeliac disease (CD) is determined primarily by alleles at the HLA-DQB locus, and evidence exists implicating other major histocompatibility complex-linked genes (6p21) and the CTLA4 locus on chromosome 2q33. In addition, extensive family studies have provided strong, reproducible evidence for a susceptibility locus on chromosome 5q (CELIAC2). However, the gene responsible has not been identified. Read More

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February 2005

Genetic susceptibility to visceral leishmaniasis in The Sudan: linkage and association with IL4 and IFNGR1.

Genes Immun 2003 Jul;4(5):351-5

Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.

Longitudinal studies in Sudan show ethnic differences in incidence and clinical phenotypes associated with Leishmania donovani. Immunologically, bias in type 1 vs type 2 cytokine responses is important. To determine whether polymorphisms at IL4/IL9 or IFNGR1 contribute to susceptibility, we examined 59 multicase families of visceral leishmaniasis (VL) with/without post Kala-azar dermal leishmaniasis (PKDL). Read More

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Adaptations of linkage and association methods for the study of asthma, a complex trait.

Genet Epidemiol 2001 ;21 Suppl 1:S89-96

Department of Epidemiology, M. D. Anderson Cancer Center, University of Texas, Houston, Texas, USA.

Early studies that found significant linkage between markers on 5q and asthma and IgE have not been reproduced. In an attempt to improve the power of these studies we performed a variance components linkage analysis and transmission-disequilibrium tests (TDT) with haplotypes using markers on 5q, using the Southampton and Perth data sets supplied by GAW. The linkage analysis with covariates revealed a maximum lod of 1. Read More

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The IL9R region contribution in asthma is supported by genetic association in an isolated population.

Eur J Hum Genet 2000 Oct;8(10):788-92

Department of Medicine, Helsinki University Central Hospital, Finland.

Interleukin 9 (IL9) is involved in mast cell maturation and the enhancement of IgE production by B cells. Furthermore, linkage data in human and mice have suggested that IL9 may contribute to asthma. Since our genetic analysis of the 5q cytokine cluster did not support a genetic role for the IL9 gene, we became interested in the IL9 receptor gene (IL9R) in the pseudoautosomal region. Read More

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October 2000

Genetics of host resistance and susceptibility to intramacrophage pathogens: a study of multicase families of tuberculosis, leprosy and leishmaniasis in north-eastern Brazil.

Authors:
J M Blackwell

Int J Parasitol 1998 Jan;28(1):21-8

Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrooke's Hospital, UK.

Genetic analysis of disease phenotypes segregating in recombinant inbred, congenic and recombinant haplotype mouse strains permitted us to effectively "scan" the murine genome for genes controlling resistance and susceptibility to leishmanial infections. Five major regions were implicated which, because they show conserved synteny with regions of the human genome, immediately provide candidate gene regions for human disease susceptibility genes. A common intramacrophage niche for leishmanial and mycobacterial pathogens, and a similar spectrum of immune response and disease phenotypes, also led to the prediction that the same genes/candidate gene regions might be responsible for genetic susceptibility to mycobacterial infections such as leprosy and tuberculosis. Read More

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January 1998

Immunogenetics of leishmanial and mycobacterial infections: the Belem Family Study.

Philos Trans R Soc Lond B Biol Sci 1997 Sep;352(1359):1331-45

Department of Medicine, University of Cambridge Clinical School, Addenbrooke's Hospital, UK.

In the 1970s and 1980s, analysis of recombinant inbred, congenic and recombinant haplotype mouse strains permitted us to effectively 'scan' the murine genome for genes controlling resistance and susceptibility to leishmanial infections. Five major regions of the genome were implicated in the control of infections caused by different Leishmania species which, because they show conserved synteny with regions of the human genome, immediately provides candidate gene regions for human disease susceptibility genes. A common intramacrophage niche for leishmanial and mycobacterial pathogens, and a similar spectrum of immune response and disease phenotypes, also led to the prediction that the same genes/candidate gene regions might be responsible for genetic susceptibility to mycobacterial infections such as leprosy and tuberculosis. Read More

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September 1997

Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population.

Hum Mol Genet 1997 Nov;6(12):2069-76

Department of Medical Genetics, Haartman Institute, Haartmaninkatu 3, 00014 University of Helsinki, Helsinki, Finland.

Immunoglobulin E (IgE) concentration in serum is elevated in atopic diseases such as asthma. A large genomic region on chromosome 5 has previously been implicated in the control of IgE levels and bronchial hyperreactivity and may, therefore, harbor genes predisposing to asthma. In an effort to confirm this linkage and to delimit the critical region, we took advantage of an isolated founder subpopulation in Finland to study genetic linkage and haplotype associations. Read More

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November 1997

Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy.

Am J Hum Genet 1995 Dec;57(6):1371-6

Division of Neurology, Duke University Medical Center, Durham, NC 27710, USA.

Limb-girdle muscular dystrophy (LGMD) is a diagnostic classification encompassing a broad group of proximal myopathies. A gene for the dominant form of LGMD (LGMD1A) has recently been localized to a 7-cM region of chromosome 5q between D5S178 and IL9. We studied three additional dominant LGMD families for linkage to these two markers and excluded all from localization to this region, providing evidence for locus heterogeneity within the dominant form of LGMD. Read More

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December 1995

Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval.

J Med Genet 1995 Mar;32(3):224-6

Department of Molecular Genetics, Institute of Ophthalmology, London, UK.

Lattice corneal dystrophy type I (LCDI) is a relatively common corneal dystrophy which can cause severe visual impairment. Recent studies have suggested a genetic localisation for the disease to chromosome 5q. Independent genetic linkage analysis in a six generation LCDI pedigree confirmed linkage to the 5q region bounded by marker loci IL9 and D5S436 suggesting genetic homogeneity. Read More

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Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9.

Neuromuscul Disord 1994 Sep-Nov;4(5-6):471-5

Department of Medicine, Duke University Medical Center, Durham, NC 27710.

Limb-girdle muscular dystrophy (LGMD) is a genetically and clinically heterogeneous group of disorders. We previously localized an autosomal dominant form of the disorder (LGMD1A) to chromosome 5q22-31 by linkage analysis in a single large pedigree. After developing a microsatellite genetic map incorporating six loci in q31-33 of chromosome 5 and spanning 35 cM, we have refined the original localization. Read More

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Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region.

Genomics 1993 Oct;18(1):7-13

Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland 21287-3914.

Treacher Collins syndrome is an autosomal dominant, craniofacial developmental disorder, and its locus (TCOF1) has been mapped to chromosome 5q3. To refine the location of the gene within this region, linkage analysis was performed among the TCOF1 locus and 12 loci (IL9, FGFA, GRL, D5S207, D5S210, D5S376, CSF1R, SPARC, D5S119, D5S209, D5S527, FGFR4) in 13 Treacher Collins syndrome families. The highest maximum lod score was obtained between loci TCOF1 and D5S210 (Z = 10. Read More

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October 1993
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