No association of polymorphisms in human endogenous retrovirus K18 and CD48 with schizophrenia

Mette Nyegaard, Ditte Demontis, Britta Boserup Thestrup, Anne Hedemand, Karina Meden Sørensen, Thomas Hansen, Thomas Werge, David Michael Hougaard, Robert H. Yolken, Preben Bo Mortensen, Ole Mors, Anders D. Børglum

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


The human endogenous retrovirus HERV-K18 is located within intron 1 of CD48 on chromosome 1q and is still active in the human genome. Genetic variation in HERV-K18 single-nucleotide polymorphisms (SNPs) has previously been associated with an increased risk of schizophrenia (SZ) and with type 2 diabetes (T2D) among individuals with SZ. Here, we present a replication study of association of two SNPs in HERV-K18 and 19 tagSNPs in CD48 with (a) SZ and (b) T2D in patients with SZ in two Danish samples (total number of cases=750 and controls=1214). No association was found with SZ or with T2D among individuals with SZ for any of the investigated SNPs. However, one HERV-K18 SNP showed a tendency toward an association with T2D in younger SZ patients, in agreement with previous findings, but due to a very low sample size, this result needs to be further investigated.

Original languageEnglish (US)
Pages (from-to)146-148
Number of pages3
JournalPsychiatric genetics
Issue number3
StatePublished - Jun 2012


  • Association
  • CD48
  • human endogenous retrovirus
  • schizophrenia
  • type 2 diabetes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Psychiatry and Mental health
  • Biological Psychiatry


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