Skip to main content
SpringerLink
Log in

Programmed death-1 (PD-1) gene polymorphisms lodged in the genetic predispositions of Kawasaki Disease

  • Original Paper
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

The purpose of this study is to investigate the association of programmed death-1 gene (PD-1) polymorphisms with genetic predispositions to Kawasaki disease (KD). A total of 73 patients with KD and 100 healthy controls were enrolled from 2007 to 2008. Two single nucleotide polymorphisms of the PD-1 gene, rs41386349 and rs2227981, were analyzed. Higher T allele frequency of rs41386349 was found in the patient group than the control group (p = 0.007, odds ratio (OR) = 1.9, 95% CI = 1.2–2.9). PD-1 rs2227981 polymorphism was not significant in patients with KD comparing with the control group (p = 0.4, OR = 1.2 (0.8–1.9)). Furthermore, no difference of PD-1 polymorphisms between patients with coronary artery dilatation (CAD) and those without CAD was found. Our data support the possibility that PD-1 gene polymorphism may be related with the genetic susceptibility of KD in Korean population.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

Abbreviations

PD-1:

Programmed death-1

SNP:

Single nucleotide polymorphism

KD:

Kawasaki disease

OR:

Odds ratio

CAD:

Coronary artery dilatation

CI:

Confidence interval

RA:

Rheumatoid arthritis

SLE:

Systemic lupus erythematosus

ANCA:

Anti-neutrophil cytoplasmic antibody

AS:

Ankylosing spondylitis

PCR:

Polymerase chain reaction

ITIM:

Immunoreceptor tyrosine-based inhibitory motif

References

  1. Goo HW, Park IS, Ko JK et al (2006) Coronary CT angiography and MR angiography of Kawasaki disease. Pediatr Radiol 36:697–705. doi:10.1007/s00247-006-0182-6

    Article  PubMed  Google Scholar 

  2. Goodnow CC (2001) Pathways for self-tolerance and the treatment of autoimmune diseases. Lancet 357:2115–2121. doi:S0140673600051850[pii]

    Article  CAS  PubMed  Google Scholar 

  3. Gotsman I, Grabie N, Dacosta R et al (2007) Proatherogenic immune responses are regulated by the PD-1/PD-L pathway in mice. J Clin Invest 117:2974–2982. doi:10.1172/JCI31344

    Article  CAS  PubMed  Google Scholar 

  4. Grabie N, Gotsman I, DaCosta R et al (2007) Endothelial programmed death-1 ligand 1 (PD-L1) regulates CD8+ T-cell mediated injury in the heart. Circulation 116:2062–2071. doi:CIRCULATIONAHA.107.709360[pii]10.1161/CIRCULATIONAHA.107.709360

    Article  CAS  PubMed  Google Scholar 

  5. Ishida Y, Agata Y, Honjo T (1992) Induced expression of PD-1, a novel member of the immunoglobulin gene superfamily, upon programmed cell death. EMBO J 11:3887-3895. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=1396582

    Google Scholar 

  6. Iwamoto T, Ikari K, Inoue E et al (2007) Failure to confirm association between PDCD1 polymorphisms and rheumatoid arthritis in a Japanese population. J Hum Genet 52:557–560. doi:10.1007/s10038-007-0145-2

    Article  CAS  PubMed  Google Scholar 

  7. Kim HY, Lee HG, Kim DS (2000) Apoptosis of peripheral blood mononuclear cells in Kawasaki disease. J Rheumatol 27:801-806 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10743828

    Google Scholar 

  8. Kong EK, Prokunina-Olsson L, Wong WH et al (2005) A new haplotype of PDCD1 is associated with rheumatoid arthritis in Hong Kong Chinese. Arthritis Rheum 52:1058–1062. doi:10.1002/art.20966

    Article  CAS  PubMed  Google Scholar 

  9. Lee SH, Lee YA, Woo DH et al (2006) Association of the programmed cell death 1 (PDCD1) gene polymorphism with ankylosing spondylitis in the Korean population. Arthritis Res Ther 8:R163. doi:ar2071[pii]10.1186/ar2071

    Article  PubMed  Google Scholar 

  10. Lin SC, Yen JH, Tsai JJ et al (2004) Association of a programmed death 1 gene polymorphism with the development of rheumatoid arthritis, but not systemic lupus erythematosus. Arthritis Rheum 50:770–775. doi:10.1002/art.20040

    Article  CAS  PubMed  Google Scholar 

  11. Ni R, Ihara K, Miyako K et al (2007) PD-1 gene haplotype is associated with the development of type 1 diabetes mellitus in Japanese children. Hum Genet 121:223–232. doi:10.1007/s00439-006-0309-8

    Article  CAS  PubMed  Google Scholar 

  12. Nielsen C, Hansen D, Husby S et al (2003) Association of a putative regulatory polymorphism in the PD-1 gene with susceptibility to type 1 diabetes. Tissue Antigens 62:492–497. doi:136[pii]

    Article  CAS  PubMed  Google Scholar 

  13. Okazaki T, Honjo T (2007) PD-1 and PD-1 ligands: from discovery to clinical application. Int Immunol 19:813–824. doi:dxm057[pii]10.1093/intimm/dxm057

    Article  CAS  PubMed  Google Scholar 

  14. Okazaki T, Wang J (2005) PD-1/PD-L pathway and autoimmunity. Autoimmunity 38:353–357. doi:XRM408820N24R857[pii]10.1080/08916930500124072

    Article  CAS  PubMed  Google Scholar 

  15. Onouchi Y, Tamari M, Takahashi A et al (2007) A genomewide linkage analysis of Kawasaki disease: evidence for linkage to chromosome 12. J Hum Genet 52:179–190. doi:10.1007/s10038-006-0092-3

    Article  CAS  PubMed  Google Scholar 

  16. Prokunina L, Castillejo-Lopez C, Oberg F et al (2002) A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat Genet 32:666–669. doi:10.1038/ng1020ng1020[pii]

    Article  CAS  PubMed  Google Scholar 

  17. Slot MC, Sokolowska MG, Savelkouls KG et al (2008) Immunoregulatory gene polymorphisms are associated with ANCA-related vasculitis. Clin Immunol 128:39–45. doi:S1521-6616(08)00573-1[pii]10.1016/j.clim.2008.03.506

    Article  CAS  PubMed  Google Scholar 

  18. Velazquez-Cruz R, Orozco L, Espinosa-Rosales F et al (2007) Association of PDCD1 polymorphisms with childhood-onset systemic lupus erythematosus. Eur J Hum Genet 15:336–341. doi:5201767[pii]10.1038/sj.ejhg.5201767

    Article  CAS  PubMed  Google Scholar 

  19. Wang SC, Chen YJ, Ou TT et al (2006) Programmed death-1 gene polymorphisms in patients with systemic lupus erythematosus in Taiwan. J Clin Immunol 26:506–511. doi:10.1007/s10875-006-9048-9

    Article  PubMed  Google Scholar 

Download references

Acknowledgement

This study was supported by an intramural fund from Yonsei University College of Medicine (4-2007-252). We would like to appreciate the warm supports of Prof. Jin-Sung Lee and Dr. Hwanseok Rhee about genetic consultations. To whole pediatric staffs, we express special thanks for caring patients with KD and collecting precious blood samples. Thanks to excellent technical helps of the members of Macrogen® (Seoul, South Korea), this study was accomplished.

Conflicts of interest

None to be declared.

Author information

Authors and Affiliations

  1. Department of Pediatrics, Yonsei University, College of Medicine, 250 Seongsanno, Seodaemoon-gu, Seoul, 120-752, South Korea

    Jin-Kyong Chun, Byung Won Yoo & Dong Soo Kim

  2. Department of Pharmacology, Kwandong University, College of Medicine, Gangneung, Gangwon-do, South Korea

    Dong Won Kang

  3. Department of Microbiology, Yonsei University, College of Medicine, Seoul, South Korea

    Jeon-Soo Shin

Authors
  1. Jin-Kyong Chun
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Dong Won Kang
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Byung Won Yoo
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Jeon-Soo Shin
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Dong Soo Kim
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Dong Soo Kim.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Chun, JK., Kang, D.W., Yoo, B.W. et al. Programmed death-1 (PD-1) gene polymorphisms lodged in the genetic predispositions of Kawasaki Disease. Eur J Pediatr 169, 181–185 (2010). https://doi.org/10.1007/s00431-009-1002-4

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00431-009-1002-4

Keywords

Search

Navigation