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Updated: Apr 23, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Disease-associated polymorphisms in 9p21 are not associated with extreme longevity
Ada Congrains1, Kei Kamide1,2, Nobuyoshi Hirose3
1Department of Geriatric Medicine and Nephrology, Osaka University Graduate School of Medicine, Osaka, Japan.
Genetic variants in the 9p21 region are linked to aging-related diseases. However, these specific single-nucleotide polymorphisms (SNPs) do not appear to contribute to the exceptional longevity seen in centenarians.
Area of Science:
- Genetics and Aging Research
- Population Genetics
- Molecular Biology
Background:
- The 9p21 chromosomal region is a known hotspot for genetic variants associated with age-related diseases like cardiovascular disease, diabetes, and cancer.
- Centenarians often exhibit delayed onset or reduced risk of these conditions, suggesting protective mechanisms against aging processes.
Purpose of the Study:
- To investigate whether specific variants within the 9p21 locus contribute to the protection against age-related diseases observed in centenarians.
- To explore the potential role of 9p21 variants in fundamental aging mechanisms.
Main Methods:
- Genotyping of 15 tag single-nucleotide polymorphisms (SNPs) in the CDKN2A/B/ANRIL locus in 1505 individuals across three age groups: centenarians (100-116 years), septuagenarians (69-71 years), and young controls (<50 years).
- Validation of the association of the lead coronary artery disease-associated SNP, rs1333049, in an independent cohort of 231 coronary artery disease patients.
Main Results:
- The SNP rs1333049 was confirmed to be associated with coronary artery disease in the validation cohort.
- No significant association was found between any of the evaluated 9p21 SNPs and extreme longevity in the centenarian group.
Conclusions:
- The genetic polymorphisms in the 9p21 region, while associated with age-related diseases, do not appear to confer the life-long protection observed in centenarians.
- The mechanisms underlying the protection from cardiovascular and other age-related diseases in centenarians are likely independent of the 9p21 locus variants studied.
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