GeneSet Information

Tier II GS129071 • anticardiolipin antibody 2 (Acla2 Published QTL Chr 4)


QTL associated with anticardiolipin antibody 2. The confidence interval is Chr4:94736033-28006254 bp,+strand


QTL-Acla2-Mouse-Chr 4









Ida A, Hirose S, Hamano Y, Kodera S, Jiang Y, Abe M, Zhang D, Nishimura H, Shirai T


Multigenic control of lupus-associated antiphospholipid syndrome in a model of (NZW x BXSB) F1 mice.


European journal of immunology Sep 1998, Vol 28, pp. 2694-703


In a subset of systemic lupus erythematosus (SLE) patients, antiphospholipid syndrome, characterized by occurrence of anti-cardiolipin (CL) antibodies, thrombocytopenia, thrombosis and recurrent intrauterine fetal death occurs. Male (NZW x BXSB)F1 mice, carrying the BXSB Yaa gene, serve as a model for SLE-associated antiphospholipid syndrome. Using microsatellite markers in the NZW x (NZW x BXSB)F1 backcross male progeny, we mapped BXSB alleles contributing to the generation of anti-CL antibodies, platelet-binding antibodies, thrombocytopenia and myocardial infarction. Generation of each disease character was controlled by two major independently segregating dominant alleles, i.e. those on chromosomes (Chr.) 4 and 17 for anti-CL antibodies, Chr. 8 and 17 for both anti-platelet antibodies and thrombocytopenia and, to our surprise, Chr. 7 and 14 for myocardial infarction, and that a combination of the two alleles appeared to produce full expression of each character, as a complementary gene action. The alleles on Chr. 17 linked to the above three characters were all mapped in close proximity to the H-2 complex. Therefore, no single factor such as anti-CL antibodies can explain the pathogenesis of SLE-associated antiphospholipid syndrome. Rather, a combination of susceptibility alleles such as described here, along with additional modifying loci, i.e. BXSB Yaa and some from NZW, characterizes unique SLE features in male (NZW x BXSB) F1 mice. There are potentially important candidate genes which may be linked to the syndrome. PUBMED: 9754557
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Annotation Information

Alleles (D000483)
Myocardial Infarction (D009203)
Lupus Erythematosus, Systemic (D008180)
Antiphospholipid Syndrome (D016736)
Chromosomes (D002875)
Patients (D010361)
Microsatellite Repeats (D018895)
Lifting (D017770)
Fetal Death (D005313)
Antibodies, Anticardiolipin (D017153)
Infarction (D007238)
Antibodies (D000906)
Thrombocytopenia (D013921)
Thrombosis (D013927)
Character (D002605)
Confidence Intervals (D016001)
decreased platelet cell number (MP:0003179)
thrombosis (MP:0005048)
immunoglobulin complex, circulating (GO:0042571)
pathogenesis (GO:0009405)

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