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Genetic association studies between the T cell immunoglobulin mucin (TIM) gene locus and childhood atopic dermatitis. 2006

Natalie S Page, and Graham Jones, and Graeme J Stewart
Institute for Immunology and Allergy Research, Westmead Millennium Institute, University of Sydney, Westmead Hospital, Westmead, Australia. natalie_hartley@wmi.usyd.edu.au

BACKGROUND The T cell immunoglobulin mucin (TIM) gene family is involved in T cell proliferation and differentiation and has been implicated in allergic disease. We have tested whether TIM gene polymorphisms are associated with atopic dermatitis (AD) in an Australian cohort. METHODS Transmission disequilibrium testing of 15 single nucleotide polymorphisms across TIM-1, TIM-3 and TIM-4 in 93 Caucasian families, and of a tri-allelic (0, 15 and 18 base pairs) TIM-1 insertion polymorphism in 123 Caucasian and Asian families, was carried out in proband-parent trio families. RESULTS Transmission of the 18-base pair variant of this insertion was significantly under-represented in the childhood AD cohort (p = 0.02), which is in agreement with a previous study on asthma in an African-American cohort. We also found a novel association between AD and the major haplotype of TIM-4 (p = 0.016). There was no evidence for an association between AD and TIM-3. CONCLUSIONS In addition to confirming the importance of genetic variation in TIM-1, our results also suggest that genetic variants in the ligand for TIM-1, TIM-4, also contribute to the presentation of AD and related disorders.

UI MeSH Term Description Entries
D008562 Membrane Glycoproteins Glycoproteins found on the membrane or surface of cells. Cell Surface Glycoproteins,Surface Glycoproteins,Cell Surface Glycoprotein,Membrane Glycoprotein,Surface Glycoprotein,Glycoprotein, Cell Surface,Glycoprotein, Membrane,Glycoprotein, Surface,Glycoproteins, Cell Surface,Glycoproteins, Membrane,Glycoproteins, Surface,Surface Glycoprotein, Cell,Surface Glycoproteins, Cell
D008565 Membrane Proteins Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors. Cell Membrane Protein,Cell Membrane Proteins,Cell Surface Protein,Cell Surface Proteins,Integral Membrane Proteins,Membrane-Associated Protein,Surface Protein,Surface Proteins,Integral Membrane Protein,Membrane Protein,Membrane-Associated Proteins,Membrane Associated Protein,Membrane Associated Proteins,Membrane Protein, Cell,Membrane Protein, Integral,Membrane Proteins, Integral,Protein, Cell Membrane,Protein, Cell Surface,Protein, Integral Membrane,Protein, Membrane,Protein, Membrane-Associated,Protein, Surface,Proteins, Cell Membrane,Proteins, Cell Surface,Proteins, Integral Membrane,Proteins, Membrane,Proteins, Membrane-Associated,Proteins, Surface,Surface Protein, Cell
D011991 Receptors, Virus Specific molecular components of the cell capable of recognizing and interacting with a virus, and which, after binding it, are capable of generating some signal that initiates the chain of events leading to the biological response. Viral Entry Receptor,Viral Entry Receptors,Virus Attachment Factor,Virus Attachment Factors,Virus Attachment Receptor,Virus Attachment Receptors,Virus Entry Receptor,Virus Entry Receptors,Virus Receptor,Virus Receptors,Attachment Factor, Virus,Attachment Factors, Virus,Attachment Receptor, Virus,Attachment Receptors, Virus,Entry Receptor, Viral,Entry Receptor, Virus,Entry Receptors, Viral,Entry Receptors, Virus,Receptor, Viral Entry,Receptor, Virus,Receptor, Virus Attachment,Receptor, Virus Entry,Receptors, Viral Entry,Receptors, Virus Attachment,Receptors, Virus Entry
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D003876 Dermatitis, Atopic A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema. Eczema, Atopic,Eczema, Infantile,Neurodermatitis, Atopic,Neurodermatitis, Disseminated,Atopic Dermatitis,Atopic Eczema,Atopic Neurodermatitis,Disseminated Neurodermatitis,Infantile Eczema
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000072596 Hepatitis A Virus Cellular Receptor 1 An Ig domain-containing membrane receptor for HEPATITIS A VIRUS; EBOLA VIRUS; MARBURG VIRUS; and DENGUE VIRUS. It may also function to modulate ASTHMA and HYPERSENSITIVITY. CD365 Antigen,HAVCR1 Protein,T-Cell Immunoglobulin and Mucin Domain-Containing Protein 1,TIMD1 Protein,Antigen, CD365,T Cell Immunoglobulin and Mucin Domain Containing Protein 1

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