PMID- 10079291
OWN - NLM
STAT- MEDLINE
DCOM- 19990423
LR  - 20190831
IS  - 0093-7711 (Print)
IS  - 0093-7711 (Linking)
VI  - 49
IP  - 4
DP  - 1999 Apr
TI  - Identification of the gene variations in human CD22.
PG  - 280-6
AB  - CD22, a member of the immunoglobulin superfamily, is a B-cell transmembrane
      glycoprotein that acts as an accessory-signaling component of the B-cell antigen 
      receptor (BCR). Recent evidence indicating the role of CD22 as a negative
      regulator of BCR signal transduction prompted us to test the possibility that
      genetic variations of human CD22 may be associated with autoimmune diseases. In
      this study, variation screening of the entire CD22 coding region was performed,
      and possible association with rheumatic diseases was tested, using the genomic
      DNA from 207 healthy Japanese individuals, 68 patients with systemic lupus
      erythematosus (SLE), and 119 patients with rheumatoid arthritis (RA). Through the
      variation screening, seven non-synonymous and four synonymous substitutions were 
      identified. In addition, single base substitutions were found in two introns
      flanking exon-intron junctions. Among these variations, Q152E substitution within
      the second extracellular domain was observed with a marginally higher frequency
      in the patients with SLE (3/68, 4.4%) than that in healthy individuals (1/207,
      0.5%) (P=0.048. SLE vs healthy individuals), although this difference was no
      longer significant after correction for the number of comparisons (Pc=0.62). No
      significant association was observed between any of the variations and RA. These 
      findings indicate that a number of genetic variants are present in CD22, and
      suggest that CD22 could be considered a candidate for the susceptibility genes to
      autoimmune diseases.
FAU - Hatta, Y
AU  - Hatta Y
AD  - Department of Human Genetics, Graduate School of Medicine, University of Tokyo,
      7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan.
FAU - Tsuchiya, N
AU  - Tsuchiya N
FAU - Matsushita, M
AU  - Matsushita M
FAU - Shiota, M
AU  - Shiota M
FAU - Hagiwara, K
AU  - Hagiwara K
FAU - Tokunaga, K
AU  - Tokunaga K
LA  - eng
SI  - GENBANK/AB012995
SI  - GENBANK/AB012996
SI  - GENBANK/AB012997
SI  - GENBANK/AB012998
SI  - GENBANK/AB012999
SI  - GENBANK/AB013000
SI  - GENBANK/AB013001
SI  - GENBANK/AB013002
SI  - GENBANK/AB013003
SI  - GENBANK/AB013004
SI  - GENBANK/AB013005
SI  - GENBANK/AB013006
SI  - GENBANK/AB013007
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Immunogenetics
JT  - Immunogenetics
JID - 0420404
RN  - 0 (Antigens, CD)
RN  - 0 (Antigens, Differentiation, B-Lymphocyte)
RN  - 0 (CD22 protein, human)
RN  - 0 (Cell Adhesion Molecules)
RN  - 0 (Lectins)
RN  - 0 (Sialic Acid Binding Ig-like Lectin 2)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Antigens, CD/*genetics
MH  - Antigens, Differentiation, B-Lymphocyte/*genetics
MH  - Arthritis, Rheumatoid/*genetics/immunology
MH  - *Cell Adhesion Molecules
MH  - Female
MH  - Flow Cytometry
MH  - Genetic Predisposition to Disease/genetics/immunology
MH  - *Genetic Variation
MH  - Humans
MH  - *Lectins
MH  - Lupus Erythematosus, Systemic/*genetics/immunology
MH  - Male
MH  - Middle Aged
MH  - Sialic Acid Binding Ig-like Lectin 2
EDAT- 1999/03/18 00:00
MHDA- 1999/03/18 00:01
CRDT- 1999/03/18 00:00
PHST- 1999/03/18 00:00 [pubmed]
PHST- 1999/03/18 00:01 [medline]
PHST- 1999/03/18 00:00 [entrez]
AID - 10.1007/s002510050494 [doi]
PST - ppublish
SO  - Immunogenetics. 1999 Apr;49(4):280-6. doi: 10.1007/s002510050494.