title: Insertion/deletion coding polymorphisms in hHAVcr-1 are not associated with atopic asthma in the Japanese population.
abstract: Hepatitis A virus receptor (HAVcr-1) and T-cell immunoglobulin- and mucin-domain-containing molecule (TIM)-3 were recently implicated as asthma susceptibility genes in the study of congenic mice. In a genome-wide screen, we found strong evidence for linkage of atopic asthma with marker D5S820, located approximately 0.5 Mb from hHAVcr-1 and human TIM3. We screened for mutations in human HAVcr-1 (hHAVcr-1) and in TIM3 and found seven, including two insertion/deletion polymorphisms, in hHAVcr-1 and two in TIM3. We conducted transmission disequilibrium tests (TDTs) in families identified through children with atopic asthma. None of the hHAVcr-1 allele were transmitted preferentially to asthma-affected children (P>0.1). In quantitative TDT analysis, no association was observed between the log[total IgE] and either allele of the hHAVcr-1 polymorphism (P>0.1). The two TIM3 mutations were rare in the Japanese population, occurring in only one of 48 unrelated asthmatic subjects. Our results indicate that hHAVcr-1 polymorphisms are not likely to be associated with the development of atopy-related phenotypes in the Japanese population.
authors.affiliation: Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Japan. enoguchi@md.tsukuba.ac.jp
authors.forename: E
authors.initials: E
authors.lastname: Noguchi
authors.forename: J
authors.initials: J
authors.lastname: Nakayama
authors.forename: M
authors.initials: M
authors.lastname: Kamioka
authors.forename: K
authors.initials: K
authors.lastname: Ichikawa
authors.forename: M
authors.initials: M
authors.lastname: Shibasaki
authors.forename: T
authors.initials: T
authors.lastname: Arinami
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001249:Asthma / Q000235:genetics*; D001483:Base Sequence; D002522:Chlorocebus aethiops; D004251:DNA Transposable Elements; D020022:Genetic Predisposition to Disease; D000072596:Hepatitis A Virus Cellular Receptor 1; D006801:Humans; D007564:Japan; D008562:Membrane Glycoproteins / Q000235:genetics*; D051379:Mice; D008969:Molecular Sequence Data; D016366:Open Reading Frames; D011110:Polymorphism, Genetic; D011991:Receptors, Virus / Q000235:genetics*; D016415:Sequence Alignment; D017384:Sequence Deletion
chemical_list: D004251:DNA Transposable Elements; C491143:HAVCR1 protein, human; D000072596:Hepatitis A Virus Cellular Receptor 1; D008562:Membrane Glycoproteins; D011991:Receptors, Virus