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Muscle-related polymorphisms (MSTN rs1805086 and ACTN3 rs1815739) are not associated with exceptional longevity in Japanese centenarians

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dc.contributor.author Fuku, Noriyuki
dc.contributor.author Alis, Rafael
dc.contributor.author Yvert, Thomas Paul
dc.contributor.author Zempo, Hirofumi
dc.contributor.author Naito, Hisashi
dc.contributor.author Abe, Yukiko
dc.contributor.author Yasumichi, Arai
dc.contributor.author Murakami, Haruka
dc.contributor.author Miyachi, Motohiko
dc.contributor.author Pareja Galeano, Helios
dc.contributor.author Emanuele, Enzo
dc.contributor.author Hirose, Nobuyoshi
dc.contributor.author Lucía Mulas, Alejandro
dc.date.accessioned 2016-12-20T12:16:52Z
dc.date.available 2016-12-20T12:16:52Z
dc.date.issued 2016
dc.identifier.citation Fuku, N., Alis, R., Yvert, T., Zempo, H., Naito, H., Abe, Y., ... & Emanuele, E. (2016). Muscle-Related Polymorphisms (MSTN rs1805086 and ACTN3 rs1815739) Are Not Associated with Exceptional Longevity in Japanese Centenarians. PloS one, 11(11). DOI: 10.1371/journal.pone.0166605 spa
dc.identifier.issn 19326203
dc.identifier.uri http://hdl.handle.net/11268/6117
dc.description.abstract Myostatin (MSTN) and α-actinin-3 (ACTN3) genes are potentially associated with preservation of muscle mass and oxidative capacity, respectively. To explore the possible role of these genes in exceptional longevity (EL), the allele/genotype frequency distribution of two polymorphisms in MSTN (rs1805086, K153R) and ACTN3 (rs1815739, R577X) was studied in Japanese centenarians of both sexes (n = 742) and healthy controls (n = 814). The rs1805086 R-allele (theoretically associated with muscle mass preservation at the expense of oxidative capacity) was virtually absent in the two groups, where genotype distributions were virtually identical. Likewise, no differences in allele (p = 0.838 (women); p = 0.193 (men); p = 0.587 (both sexes)) or genotype distribution were found between groups for ACTN3 rs1815739 (p = 0.975 (women), p = 0.136 (men), p = 0.752 (both sexes)). Of note, however, the frequency of the rs1805086 R-allele observed here is the lowest been reported to date whereas that of the 'highly oxidative/efficient' rs1815739 XX genotype in Japanese male centenarians (33.3%) or supercentenarians of both sexes (≥110 years) are the highest (32.6%), for a non-American population. No definite conclusions can be inferred in relation to EL owing to its lack of association with both rs1815739 and rs1805086. However, it cannot be excluded that these gene variants could eventually be related to a "healthy" metabolic phenotype in the Japanese population. Further research might determine if such metabolic profile is among the factors that can potentially predispose these individuals to live longer than Caucasians and what genetic variants might be actually involved. spa
dc.description.sponsorship Fondo de Investigaciones Sanitarias (PI15/00558) spa
dc.description.sponsorship Cátedra Real Madrid-Universidad Europea 2015/02RM spa
dc.description.sponsorship Cátedra Real Madrid-Universidad Europea 2016/RM02 spa
dc.language.iso eng spa
dc.rights Reconocimiento 4.0 Internacional *
dc.rights.uri https://creativecommons.org/licenses/by/4.0/deed.es_ES *
dc.title Muscle-related polymorphisms (MSTN rs1805086 and ACTN3 rs1815739) are not associated with exceptional longevity in Japanese centenarians spa
dc.type article spa
dc.description.impact 2.806 JCR (2016) Q1, 15/64 Multidisciplinary Sciences spa
dc.identifier.doi 10.1371/journal.pone.0166605
dc.rights.accessRights openAccess spa
dc.subject.uem Polimorfismo genético spa
dc.subject.uem Longevidad spa
dc.subject.unesco Genética humana spa
dc.subject.unesco Anciano spa
dc.description.filiation UEM spa
dc.peerreviewed Si spa


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Reconocimiento 4.0 Internacional Except where otherwise noted, this item's license is described as Reconocimiento 4.0 Internacional