title: CD40 ligand gene and Kawasaki disease.
abstract: Kawasaki disease (KD) is an acute systemic vasculitis syndrome of infants and young children. Although its etiology is largely unknown, epidemiological findings suggest that genetic factors play a role in the pathogenesis of KD. To identify genetic factors, affected sib-pair analysis has been performed. One of the identified peaks was located on the Xq26 region. A recent report of elevated expression of CD40 ligand (CD40L), which maps to Xq26, during the acute-phase KD, and its relationship to the development of coronary artery lesions (CAL) prompted us to screen for polymorphism of CD40L and to study the association of the gene to KD. A newly identified SNP in intron 4 (IVS4+121 A>G) is marginally over-represented in KD patients as compared to controls (109/602, 18.1 vs 111/737, 15.1%). When male KD patients with CAL were analyzed as a patient group, the SNP was significantly more frequent than in controls (15/58, 25.9%, vs 111/737, 15.1%, OR=2.0, 95% CI=1.07-3.66; P=0.030). Interestingly, this variation was extremely rare in a control Caucasian population (1/145, 0.7%). Our results suggest a role of CD40L in the pathogenesis of CAL and might explain the excess of males affected with KD.
authors.affiliation: Laboratory for Gastrointestinal Diseases, SNP Research Center, RIKEN, 1-7-22 Suehiro, Tsurumi, Yokohama, Japan. onouchi@src.riken.jp
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Onouchi
authors.forename: Sakura
authors.initials: S
authors.lastname: Onoue
authors.forename: Mayumi
authors.initials: M
authors.lastname: Tamari
authors.forename: Keiko
authors.initials: K
authors.lastname: Wakui
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Fukushima
authors.forename: Mayumi
authors.initials: M
authors.lastname: Yashiro
authors.forename: Yoshikazu
authors.initials: Y
authors.lastname: Nakamura
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yanagawa
authors.forename: Fumio
authors.initials: F
authors.lastname: Kishi
authors.forename: Kazunobu
authors.initials: K
authors.lastname: Ouchi
authors.forename: Masaru
authors.initials: M
authors.lastname: Terai
authors.forename: Kunihiro
authors.initials: K
authors.lastname: Hamamoto
authors.forename: Fumiyo
authors.initials: F
authors.lastname: Kudo
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Aotsuka
authors.forename: Yoshitake
authors.initials: Y
authors.lastname: Sato
authors.forename: Akiyoshi
authors.initials: A
authors.lastname: Nariai
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Kaburagi
authors.forename: Masaru
authors.initials: M
authors.lastname: Miura
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Saji
authors.forename: Tomisaku
authors.initials: T
authors.lastname: Kawasaki
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Nakamura
authors.forename: Akira
authors.initials: A
authors.lastname: Hata
mesh_terms: D020413:3' Untranslated Regions; D023201:CD40 Ligand / Q000235:genetics*; D016022:Case-Control Studies; D018900:Dinucleotide Repeats; D020022:Genetic Predisposition to Disease; D006801:Humans; D015810:Linkage Disequilibrium; D009080:Mucocutaneous Lymph Node Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D020413:3' Untranslated Regions; D023201:CD40 Ligand