RT Journal Article T1 Human endogenous retrovirus HERV-Fc1 association with multiple sclerosis susceptibility: a meta-analysis. A1 Hera, Belén de la A1 Varadé, Jezabel A1 García-Montojo, Marta A1 Alcina, Antonio A1 Fedetz, María A1 Alloza, Iraide A1 Astobiza, Ianire A1 Leyva, Laura A1 Fernández, Oscar A1 Izquierdo, Guillermo A1 Antigüedad, Alfredo A1 Arroyo, Rafael A1 Álvarez-Lafuente, Roberto A1 Vandenbroeck, Koen A1 Matesanz, Fuencisla A1 Urcelay, Elena K1 Humanos K1 Esclerosis multiple K1 Retrovirus endógenos K1 Genoma K1 Cromosoma X K1 Grupo de ascendencia continental europea K1 España K1 Polimorfismo genético K1 Grupos étnicos K1 Estudios de cohortes AB BACKGROUNDHuman endogenous retroviruses (HERVs) are repetitive sequences derived from ancestral germ-line infections by exogenous retroviruses and different HERV families have been integrated in the genome. HERV-Fc1 in chromosome X has been previously associated with multiple sclerosis (MS) in Northern European populations. Additionally, HERV-Fc1 RNA levels of expression have been found increased in plasma of MS patients with active disease. Considering the North-South latitude gradient in MS prevalence, we aimed to evaluate the role of HERV-Fc1on MS risk in three independent Spanish cohorts.METHODSA single nucleotide polymorphism near HERV-Fc1, rs391745, was genotyped by Taqman chemistry in a total of 2473 MS patients and 3031 ethnically matched controls, consecutively recruited from: Northern (569 patients and 980 controls), Central (883 patients and 692 controls) and Southern (1021 patients and 1359 controls) Spain. Our results were pooled in a meta-analysis with previously published data.RESULTSSignificant associations of the HERV-Fc1 polymorphism with MS were observed in two Spanish cohorts and the combined meta-analysis with previous data yielded a significant association [rs391745 C-allele carriers: pM-H = 0.0005; ORM-H (95% CI) = 1.27 (1.11-1.45)]. Concordantly to previous findings, when the analysis was restricted to relapsing remitting and secondary progressive MS samples, a slight enhancement in the strength of the association was observed [pM-H = 0.0003, ORM-H (95% CI) = 1.32 (1.14-1.53)].CONCLUSIONAssociation of the HERV-Fc1 polymorphism rs391745 with bout-onset MS susceptibility was confirmed in Southern European cohorts. PB Public Library of Science YR 2014 FD 2014-03-03 LK http://hdl.handle.net/10668/1627 UL http://hdl.handle.net/10668/1627 LA en NO Hera B de la, Varadé J, García-Montojo M, Alcina A, Fedetz M, Alloza I, et al. Human endogenous retrovirus HERV-Fc1 association with multiple sclerosis susceptibility: a meta-analysis. PLoS ONE. 2014; 9(3):e90182 NO Journal Article; Research Support, Non-U.S. Gov't; DS RISalud RD Apr 20, 2025