HERV-K113 is not associated with multiple sclerosis in a large family-based study.

Numerous studies have invoked a role for retroviruses in multiple sclerosis (MS). Most have identified human endogenous retroviruses (HERVs) as possible etiological agents. The majority of HERVs originate from ancestral infection and then become progressively disabled by mutations over millions of years of primate evolution. Their presence in 100% of healthy humans, together with the paucity of functional retroviral genes, argues strongly against a causal role in disease. Recently, a new class of insertionally polymorphic HERVs has been described that is present in only a proportion of the population. One of them, HERV-K113, is notable for open reading frames for all of its genes and is found in 0-28% of humans with widespread geographic and racial variation. Thus HERV-K113 is a credible candidate for causing disease in a manner comparable to infectious retroviruses. Genomic DNA samples from 951 patients with MS were tested for the presence of the HERV-K113 allele by PCR, with their unaffected parents (n = 1902) acting as controls. HERV-K113 provirus was found in 70 out of 951 (7.36%) patients with MS and was not significantly increased compared to the combined parent group (6.52%). The results do not support an association between this endogenous retrovirus and MS. This study also emphasizes the need for large cohorts with controls for race and geographic location when examining possible links between polymorphic HERVs and disease.