PD1 as a common candidate susceptibility gene of subacute sclerosing panencephalitis

Yoshito Ishizaki, Naoko Yukaya, Koichi Kusuhara, Ryutaro Kira, Hiroyuki Torisu, Kenji Ihara, Yasunari Sakai, Masafumi Sanefuji, Judy R. Pipo-Deveza, Catherine Lynn T. Silao, Benilda C. Sanchez, Marissa B. Lukban, Aida M. Salonga, Toshiro Hara

Research output: Contribution to journalArticlepeer-review

46 Citations (Scopus)


Although the exact pathogenesis of subacute sclerosing panencephalitis (SSPE) remains to be determined, our previous data suggested a genetic contribution to the host susceptibility to SSPE. During chronic viral infection, virus-specific cytotoxic T lymphocytes display poor effector functions. Since co-inhibitory molecules are involved in the suppression of T lymphocytes, we investigated whether single nucleotide polymorphisms (SNPs) of genes encoding co-inhibitory molecules contributed to a susceptibility to SSPE. Association studies on a total of 20 SNPs in 8 genes (CTLA4, CD80, CD86, PD1, PDL1, PDL2, BTLA and HVEM) and subsequent haplotype analysis of 4 SNPs in the PD1 genes were performed in Japanese and Filipino SSPE patients and controls. Then, we investigated a functional difference in promoter activity of two haplotypes and compared the expression levels of PD1 between SSPE and controls. The frequency of GCG(C) haplotype of PD1 containing -606G allele was significantly higher in SSPE patients than in controls both in Japanese and in Filipinos. The promoter activity was significantly higher in the construct with -606G allele than in that with -606A allele. The expression levels of PD1 were significantly higher in SSPE patients than in the controls. Our results suggested that the PD1 gene contributed to a genetic susceptibility to SSPE.

Original languageEnglish
Pages (from-to)411-419
Number of pages9
JournalHuman Genetics
Issue number4
Publication statusPublished - Apr 2010

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'PD1 as a common candidate susceptibility gene of subacute sclerosing panencephalitis'. Together they form a unique fingerprint.

Cite this