title: Molecular scanning of the gene for programmed cell death-1 (PDCD-1) as a candidate for type 1 diabetes susceptibility.
abstract: Multiple genes are involved in the susceptibility to autoimmune type 1 diabetes. The immunoreceptor programmed cell death-1 (PDCD-1), an inhibitory costimulatory molecule regulating peripheral tolerance, was reported to play a role in the development of type 1 diabetes, making the human PDCD-1 gene, PDCD1, as a candidate for disease susceptibility. In this article, we sequenced all 5 exons and exon-intron junctions of PDCD1 in Japanese subjects, and found 10 sequence variants. Preliminary data suggested no association of these polymorphisms with type 1 diabetes. These sequence variants are valuable for further studies to clarify contribution of PDCD1 to susceptibility to type 1 diabetes.
authors.affiliation: Department of Endocrinology, Metabolism and Diabetes, Kinki University School of Medicine, 377-2 Ohno-higashi, Osaka-Sayama, Osaka 589-8511, Japan.
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Hiromine
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Ikegami
authors.forename: Tomomi
authors.initials: T
authors.lastname: Fujisawa
authors.forename: Yumiko
authors.initials: Y
authors.lastname: Kawabata
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Noso
authors.forename: Kaori
authors.initials: K
authors.lastname: Yamaji
authors.forename: Katsuaki
authors.initials: K
authors.lastname: Asano
authors.forename: Toshio
authors.initials: T
authors.lastname: Ogihara
mesh_terms: D019943:Amino Acid Substitution; D015703:Antigens, CD / Q000235:genetics*; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D001327:Autoimmune Diseases / Q000235:genetics; D015551:Autoimmunity / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D004198:Disease Susceptibility; D005091:Exons; D014644:Genetic Variation; D006801:Humans; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D061026:Programmed Cell Death 1 Receptor; D017422:Sequence Analysis, DNA
chemical_list: D015703:Antigens, CD; D051017:Apoptosis Regulatory Proteins; C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor