Abstract
Kawasaki disease (KD) is an acute systemic vasculitis syndrome of infants and young children. Although its etiology is largely unknown, epidemiological findings suggest that genetic factors play a role in the pathogenesis of KD. To identify genetic factors, affected sib-pair analysis has been performed. One of the identified peaks was located on the Xq26 region. A recent report of elevated expression of CD40 ligand (CD40L), which maps to Xq26, during the acute-phase KD, and its relationship to the development of coronary artery lesions (CAL) prompted us to screen for polymorphism of CD40L and to study the association of the gene to KD. A newly identified SNP in intron 4 (IVS4+121 A>G) is marginally over-represented in KD patients as compared to controls (109/602, 18.1 vs 111/737, 15.1%). When male KD patients with CAL were analyzed as a patient group, the SNP was significantly more frequent than in controls (15/58, 25.9%, vs 111/737, 15.1%, OR=2.0, 95% CI=1.07–3.66; P=0.030). Interestingly, this variation was extremely rare in a control Caucasian population (1/145, 0.7%). Our results suggest a role of CD40L in the pathogenesis of CAL and might explain the excess of males affected with KD.
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Acknowledgements
We thank all patients, their family members and all the medical staff for collaborating with this project. We also thank Jane C Burns (UCSD School of Medicine, La Jolla, CA) for helpful discussion and editing of the manuscript.
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Supplementary information accompanies the paper on European Journal of Human Genetics website (http://www.nature.com/EJHG).
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Onouchi, Y., Onoue, S., Tamari, M. et al. CD40 ligand gene and Kawasaki disease. Eur J Hum Genet 12, 1062–1068 (2004). https://doi.org/10.1038/sj.ejhg.5201266
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DOI: https://doi.org/10.1038/sj.ejhg.5201266
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