PMID- 19758193
OWN - NLM
STAT- MEDLINE
DCOM- 20091029
LR  - 20090917
IS  - 1749-6632 (Electronic)
IS  - 0077-8923 (Linking)
VI  - 1173
DP  - 2009 Sep
TI  - Val/Leu247 polymorphism of beta2-glycoprotein I in Brazilian patients with 
      antiphospholipid syndrome--a genetic risk factor?
PG  - 509-14
LID - 10.1111/j.1749-6632.2009.04655.x [doi]
AB  - A genetic polymorphism of the beta2-glycoprotein I (beta2-GPI) is recognized by 
      antiphospholipid antibodies (aPL) and may even play a role in the development of 
      antiphospholipid syndrome (APS). The objectives of this study were to determine a 
      Val/Leu SNP at position 247 of the beta2-GPI gene in Brazilian patients with APS 
      and to compare these data with clinical and laboratory manifestations. 
      Polymorphism assignment was performed by PCR followed by Rsa I restriction 
      endonuclease. The titration of anti-beta2-GPI antibodies was detected by ELISA. 
      The results showed significantly higher frequencies of the V-encoding allele and 
      the homozygous VV genotype in patients with APS than in control subjects (OR = 
      1.781, P = 0.0068; and OR = 6.413, P < 0.0001, respectively). The frequency of 
      this genotype was also significantly higher in patients with arterial and venous 
      thrombosis than in the control group (52% and 44%, respectively, versus 13%). 
      Anti-beta2-GPI-positive patients had significantly higher frequencies of the VV 
      genotype than the controls subjects (OR = 8.179, P < 0.0001). These results 
      suggest that the V-encoding allele and the homozygous VV genotype at position 247 
      of the beta2-GPI gene may play a role in the generation of anomalous beta2-GPI, 
      with consequent auto-antibody production, and in phenotype expression of arterial 
      and venous thrombosis in APS patients.
FAU - Pernambuco-Climaco, Juliana M
AU  - Pernambuco-Climaco JM
AD  - Department of Clinical Medicine, Faculty of Medicine of Ribeirao Preto, 
      University of Sao Paulo, Sao Paulo, Brazil.
FAU - Brochado, Maria Jose F
AU  - Brochado MJ
FAU - Freitas, Max Victor C
AU  - Freitas MV
FAU - Roselino, Ana Maria F
AU  - Roselino AM
FAU - Louzada-Junior, Paulo
AU  - Louzada-Junior P
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Ann N Y Acad Sci
JT  - Annals of the New York Academy of Sciences
JID - 7506858
RN  - 0 (Autoantibodies)
RN  - 0 (beta 2-Glycoprotein I)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Alleles
MH  - Amino Acid Substitution
MH  - Antiphospholipid Syndrome/complications/*genetics/immunology
MH  - Autoantibodies/blood
MH  - Brazil
MH  - Female
MH  - Gene Frequency
MH  - Genetic Predisposition to Disease
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Odds Ratio
MH  - *Polymorphism, Single Nucleotide
MH  - Risk Factors
MH  - Thrombosis/complications
MH  - Young Adult
MH  - beta 2-Glycoprotein I/*genetics/immunology
EDAT- 2009/09/18 06:00
MHDA- 2009/10/30 06:00
CRDT- 2009/09/18 06:00
PHST- 2009/09/18 06:00 [entrez]
PHST- 2009/09/18 06:00 [pubmed]
PHST- 2009/10/30 06:00 [medline]
AID - NYAS4655 [pii]
AID - 10.1111/j.1749-6632.2009.04655.x [doi]
PST - ppublish
SO  - Ann N Y Acad Sci. 2009 Sep;1173:509-14. doi: 10.1111/j.1749-6632.2009.04655.x.