title: The rs1333049 polymorphism on locus 9p21.3 and extreme longevity in Spanish and Japanese cohorts.
abstract: The rs1333049 (G/C) polymorphism located on chromosome 9p21.3 is a candidate to influence extreme longevity owing to its association with age-related diseases, notably coronary artery disease (CAD). We compared allele/genotype distributions of rs1333049 in cases (centenarians) and controls (younger adults, without (healthy) or with CAD) in two independent cohorts: Spanish (centenarians: n = 152, 128 women, 100-111 years; healthy controls: n = 343, 212 women, age <50 years; CAD controls: n = 98, 32 women, age ≤65 years) and Japanese (centenarians: n = 742, 623 women, 100-115 years; healthy controls: n = 920, 511 women, < 60 years; CAD controls: n = 395, 45 women, age ≤65 years). The frequency of the "risk" C-allele tended to be lower in Spanish centenarians (47.0 %) than in their healthy (52.9 %, P = 0.088) or CAD controls (55.1 %, P = 0.078), and significant differences were found in genotype distributions (P = 0.034 and P = 0.045), with a higher frequency of the GG genotype in cases than in both healthy and CAD controls as well as a lower proportion of the CG genotype compared with healthy controls. In the Japanese cohort, the main finding was that the frequency of the C-allele did not differ between centenarians (46.4 %) and healthy controls (47.3 %, P = 0.602), but it was significantly lower in the former than in CAD controls (57.2 %, P < 0.001). Although more research is needed, the present and recent pioneer findings (Rejuvenation Res 13:23-26, 2010) suggest that the rs1333049 polymorphism could be among the genetic contributors to exceptional longevity in Southern European populations, albeit this association does not exist in the healthy (CAD-free) Japanese population.
authors.affiliation: Departament de Patología Mitocondrial i Neuromuscular, Institut de Recerca Hospital Universitari Vall d'Hebron, Barcelona, Spain.
authors.forename: Tomàs
authors.initials: T
authors.lastname: Pinós
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Fuku
authors.forename: Yolanda
authors.initials: Y
authors.lastname: Cámara
authors.forename: Yasumichi
authors.initials: Y
authors.lastname: Arai
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Abe
authors.forename: Gabriel
authors.initials: G
authors.lastname: Rodríguez-Romo
authors.forename: Nuria
authors.initials: N
authors.lastname: Garatachea
authors.forename: Alejandro
authors.initials: A
authors.lastname: Santos-Lozano
authors.forename: Elisabet
authors.initials: E
authors.lastname: Miro-Casas
authors.forename: Marisol
authors.initials: M
authors.lastname: Ruiz-Meana
authors.forename: Imanol
authors.initials: I
authors.lastname: Otaegui
authors.forename: Haruka
authors.initials: H
authors.lastname: Murakami
authors.forename: Motohiko
authors.initials: M
authors.lastname: Miyachi
authors.forename: David
authors.initials: D
authors.lastname: Garcia-Dorado
authors.forename: Kunihiko
authors.initials: K
authors.lastname: Hinohara
authors.forename: Antoni L
authors.initials: AL
authors.lastname: Andreu
authors.forename: Akinori
authors.initials: A
authors.lastname: Kimura
authors.forename: Nobuyoshi
authors.initials: N
authors.lastname: Hirose
authors.forename: Alejandro
authors.initials: A
authors.lastname: Lucia
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D003327:Coronary Disease / Q000453:epidemiology / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008136:Longevity / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009017:Morbidity / Q000639:trends; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012189:Retrospective Studies; D013030:Spain / Q000453:epidemiology
chemical_list: D004247:DNA