title: No association of polymorphisms in human endogenous retrovirus K18 and CD48 with schizophrenia.
abstract: 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.
authors.affiliation: Department of Haematology, Aalborg Hospital Science and Innovation Center, Aarhus University Hospital, Aalborg, Denmark. nyegaard@hum-gen.au.dk
authors.forename: Mette
authors.initials: M
authors.lastname: Nyegaard
authors.forename: Ditte
authors.initials: D
authors.lastname: Demontis
authors.forename: Britta Boserup
authors.initials: BB
authors.lastname: Thestrup
authors.forename: Anne
authors.initials: A
authors.lastname: Hedemand
authors.forename: Karina Meden
authors.initials: KM
authors.lastname: Sørensen
authors.forename: Thomas
authors.initials: T
authors.lastname: Hansen
authors.forename: Thomas
authors.initials: T
authors.lastname: Werge
authors.forename: David Michael
authors.initials: DM
authors.lastname: Hougaard
authors.forename: Robert H
authors.initials: RH
authors.lastname: Yolken
authors.forename: Preben Bo
authors.initials: PB
authors.lastname: Mortensen
authors.forename: Ole
authors.initials: O
authors.lastname: Mors
authors.forename: Anders D
authors.initials: AD
authors.lastname: Børglum
mesh_terms: D015703:Antigens, CD / Q000276:immunology*; D000071178:CD48 Antigen; D016022:Case-Control Studies; D020077:Endogenous Retroviruses / Q000235:genetics*; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D012559:Schizophrenia / Q000276:immunology* / Q000821:virology*
chemical_list: D015703:Antigens, CD; D000071178:CD48 Antigen; C000604065:CD48 protein, human