PMID- 10501418
OWN - NLM
STAT- MEDLINE
DCOM- 19991020
LR  - 20190513
IS  - 1462-0324 (Print)
IS  - 1462-0324 (Linking)
VI  - 38
IP  - 8
DP  - 1999 Aug
TI  - Correlation between beta2-glycoprotein I valine/leucine247 polymorphism and 
      anti-beta2-glycoprotein I antibodies in patients with primary antiphospholipid 
      syndrome.
PG  - 721-3
AB  - OBJECTIVES: Beta2-Glycoprotein I (beta2GPI) exon 7 polymorphism leads to a valine 
      leucine amino acid exchange at position 247 in domain 5 of beta2GPI, between the 
      phospholipid binding site and the cryptic site of the epitopes for anti-beta2GPI 
      antibodies. Therefore, position 247 polymorphism may affect the conformational 
      change of beta2GPI and the exposure of the epitopes for anticardiolipin 
      antibodies (aCL) (= anti-beta2GPI antibodies). In this study we analysed the 
      genetic polymorphism of beta2GPI in a British cohort of well-defined 
      antiphospholipid syndrome (APS) patients. METHODS: This study comprised 88 
      Caucasoid patients with APS [57 with primary APS and 31 with APS secondary to 
      systemic lupus erythematosus (SLE)]. Polymorphism assignment was determined by 
      polymerase chain reaction followed by allele-specific restriction enzyme 
      digestion (PCR-RFLP). The presence of anti-beta2GPI antibodies was detected by 
      ELISA utilizing irradiated ELISA plates. RESULTS AND CONCLUSIONS: Anti-beta2GPI 
      antibodies were present in 28 of 57 primary APS patients (49%) and in 19 of 31 
      secondary APS patients (61%). The allele containing valine247 was significantly 
      more frequent in primary APS patients with anti-beta2GPI antibodies than in 
      controls (OR = 2.51, 95%, CI 1.03-6.13, P = 0.0396) or in primary APS patients 
      without anti-beta2GPI antibodies (OR = 2.92, 95% CI 1.16-7.39, P = 0.0204). This 
      tendency was not found in the secondary APS group. In conclusion, the beta2GPI 
      polymorphism, valine/leucine247, is correlated with anti-beta2GPI antibody 
      production in patients with primary APS, and valine247 may be important in the 
      formation of beta2GPI antigenicity.
FAU - Atsumi, T
AU  - Atsumi T
AD  - Department of Medicine II, Hokkaido University School of Medicine, Sapporo, 
      Japan.
FAU - Tsutsumi, A
AU  - Tsutsumi A
FAU - Amengual, O
AU  - Amengual O
FAU - Khamashta, M A
AU  - Khamashta MA
FAU - Hughes, G R
AU  - Hughes GR
FAU - Miyoshi, Y
AU  - Miyoshi Y
FAU - Ichikawa, K
AU  - Ichikawa K
FAU - Koike, T
AU  - Koike T
LA  - eng
PT  - Journal Article
PL  - England
TA  - Rheumatology (Oxford)
JT  - Rheumatology (Oxford, England)
JID - 100883501
RN  - 0 (Autoantibodies)
RN  - 0 (Glycoproteins)
RN  - 0 (beta 2-Glycoprotein I)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Amino Acid Substitution
MH  - Antiphospholipid Syndrome/blood/*genetics/*immunology
MH  - Autoantibodies/blood
MH  - Enzyme-Linked Immunosorbent Assay
MH  - Female
MH  - Glycoproteins/*genetics/*immunology
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Genetic
MH  - Polymorphism, Restriction Fragment Length
MH  - beta 2-Glycoprotein I
EDAT- 1999/09/29 00:00
MHDA- 1999/09/29 00:01
CRDT- 1999/09/29 00:00
PHST- 1999/09/29 00:00 [pubmed]
PHST- 1999/09/29 00:01 [medline]
PHST- 1999/09/29 00:00 [entrez]
AID - 10.1093/rheumatology/38.8.721 [doi]
PST - ppublish
SO  - Rheumatology (Oxford). 1999 Aug;38(8):721-3. doi: 10.1093/rheumatology/38.8.721.