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

Nyegaard, Mettea,c; Demontis, Dittec; Thestrup, Britta Boserupc; Hedemand, Annec; Sørensen, Karina Medene; Hansen, Thomasf; Werge, Thomasf; Hougaard, David Michaele; Yolken, Robert H.g; Mortensen, Preben Bod; Mors, Oleb; Børglum, Anders D.c,b

doi: 10.1097/YPG.0b013e328353953c
Brief Reports

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.

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aDepartment of Haematology, Aalborg Hospital Science and Innovation Center, Aarhus University Hospital, Aalborg

bCentre for Psychiatric Research, Aarhus University Hospital, Risskov

cDepartment of Biomedicine

dNational Centre for Register-Based Research, Aarhus University, Aarhus C

eDepartment of Clinical Biochemistry and Immunology, Statens Serum Institute, Copenhagen

fResearch Institute of Biological Psychiatry, Mental Health Centre Sct. Hans, Copenhagen University Hospital, Roskilde, Denmark

gDepartment of Pediatrics, Stanley Division of Developmental Neurovirology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

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Correspondence to Mette Nyegaard, PhD, Department of Biomedicine, Aarhus University, Wilhelm Meyers Allé 4, 8000 Aarhus C, Denmark Tel: +45 971 67773; fax: +45 861 23173; e-mail:

Received February 11, 2011

Accepted November 2, 2011

© 2012 Lippincott Williams & Wilkins, Inc.