title: Genomic Analysis of Single Nucleotide Polymorphisms Asp299Gly and Thr399Ile in Japanese Patients with Invasive Aspergillosis.
abstract: Single nucleotide polymorphisms (SNPs) 1063A/G (Asp299Gly) and 1363C/T (Thr399Ile) in the gene encoding Toll-like receptor 4 (TLR4) increase susceptibility to invasive aspergillosis. However, limited information is available on the prevalence of these SNPs in Japan. Therefore, we surveyed these TLR4 SNPs by using formalin-fixed and paraffin-embedded tissue blocks obtained from autopsies of patients with invasive pulmonary aspergillosis. Tissue samples of approximately 30% patients were included in genomic analysis. However, none of these samples showed the presence of TLR4 Asp299Gly and Thr399Ile polymorphisms. Thus, the present study provided information on the prevalence of TLR4 SNPs in Japanese patients with invasive aspergillosis and indicated that these SNPs played a minor role in increasing the susceptibility of Japanese individuals to invasive aspergillosis.
authors.affiliation: Department of Surgical Pathology, Toho University School of Medicine.
authors.forename: Kyoko
authors.initials: K
authors.lastname: Aki
authors.forename: Yoichiro
authors.initials: Y
authors.lastname: Okubo
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Nanjo
authors.forename: Takao
authors.initials: T
authors.lastname: Ishiwatari
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Nihonyanagi
authors.forename: Naobumi
authors.initials: N
authors.lastname: Tochigi
authors.forename: Megumi
authors.initials: M
authors.lastname: Wakayama
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Nemoto
authors.forename: Katsunori
authors.initials: K
authors.lastname: Fukutake
authors.forename: Minoru
authors.initials: M
authors.lastname: Shinozaki
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Hori
authors.forename: Hirotake
authors.initials: H
authors.lastname: Masuda
authors.forename: Kazutoshi
authors.initials: K
authors.lastname: Shibuya
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001344:Autopsy; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D055744:Invasive Pulmonary Aspergillosis / Q000235:genetics*; D007564:Japan; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D057089:Pathology, Molecular; D020641:Polymorphism, Single Nucleotide; D051197:Toll-Like Receptor 4 / Q000235:genetics*; D055815:Young Adult
chemical_list: C495345:TLR4 protein, human; D051197:Toll-Like Receptor 4