The rs1333049 polymorphism on locus 9p21.3 and extreme longevity in Spanish and Japanese cohorts

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• 作者：Tomàs Pinós (1) (11)
  Noriyuki Fuku (2)
  Yolanda Cámara (1) (11)
  Yasumichi Arai (3)
  Yukiko Abe (3)
  Gabriel Rodríguez-Romo (4)
  Nuria Garatachea (5)
  Alejandro Santos-Lozano (6)
  Elisabet Miro-Casas (7)
  Marisol Ruiz-Meana (7)
  Imanol Otaegui (7)
  Haruka Murakami (8)
  Motohiko Miyachi (8)
  David Garcia-Dorado (7)
  Kunihiko Hinohara (9)
  Antoni L. Andreu (1) (11)
  Akinori Kimura (9)
  Nobuyoshi Hirose (3)
  Alejandro Lucia (10)
  
• 关键词：Centenarians ; Genetics ; Coronary artery disease ; CDKN2A ; CDKN2B
• 刊名：AGE
• 出版年：2014
• 出版时间：April 2014
• 年：2014
• 卷：36
• 期：2
• 页码：933-943
• 全文大小：232 KB
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• 作者单位：Tomàs Pinós (1) (11)
  Noriyuki Fuku (2)
  Yolanda Cámara (1) (11)
  Yasumichi Arai (3)
  Yukiko Abe (3)
  Gabriel Rodríguez-Romo (4)
  Nuria Garatachea (5)
  Alejandro Santos-Lozano (6)
  Elisabet Miro-Casas (7)
  Marisol Ruiz-Meana (7)
  Imanol Otaegui (7)
  Haruka Murakami (8)
  Motohiko Miyachi (8)
  David Garcia-Dorado (7)
  Kunihiko Hinohara (9)
  Antoni L. Andreu (1) (11)
  Akinori Kimura (9)
  Nobuyoshi Hirose (3)
  Alejandro Lucia (10)
  
  1. Departament de Patología Mitocondrial i Neuromuscular, Institut de Recerca Hospital Universitari Vall d’Hebron, Barcelona, Spain
  11. CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain
  2. Department of Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan
  3. Department of Internal Medicine, Keio University School of Medicine, Tokyo, Japan
  4. INEF, Universidad Politécnica, Madrid, Spain
  5. Facultad de Ciencias de la Salud y del Deporte, Universidad de Zaragoza, Huesca, Spain
  6. Departmento de Ciencias Biomédicas, Universidad de León, León, Spain
  7. Departamento de Cardiología, Hospital Universitari Vall d’Hebron, Barcelona, Spain
  8. Department of Health Promotion and Exercise, National Institute of Health and Nutrition, Tokyo, Japan
  9. Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan
  10. Universidad Europea and Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Madrid, Spain
  
• ISSN：1574-4647

文摘

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--52, 128 women, 100-11?years; healthy controls: n--43, 212 women, age <50?years; CAD controls: n--8, 32 women, age ?5?years) and Japanese (centenarians: n--42, 623 women, 100-15?years; healthy controls: n--20, 511 women, < 60?years; CAD controls: n--95, 45 women, age ?5?years). The frequency of the “risk-C-allele tended to be lower in Spanish centenarians (47.0?%) than in their healthy (52.9?%, P--.088) or CAD controls (55.1?%, P--.078), and significant differences were found in genotype distributions (P--.034 and P--.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--.602), but it was significantly lower in the former than in CAD controls (57.2?%, P-lt;-.001). Although more research is needed, the present and recent pioneer findings (Rejuvenation Res 13:23-6, 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.