ArticleBMC geriatrics2016
Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study.
Article in BMC geriatrics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 22 citations in OpenAlex.
- Effect of Intentional Weight Loss on Mortality Biomarkers in Older Adults With Obesity.The journals of gerontology. Series A, Biological sciences and medical sciences · 2019Trial
- All-Cause Mortality and Cause-Specific Death in U.S. Long-Lived Siblings: Data From the Long Life Family Study.The journals of gerontology. Series A, Biological sciences and medical sciences · 2024Article
- NIA Long Life Family Study: Objectives, Design, and Heritability of Cross-Sectional and Longitudinal Phenotypes.The journals of gerontology. Series A, Biological sciences and medical sciences · 2022Article
- Identification and genomic analysis of pedigrees with exceptional longevity identifies candidate rare variants.Neurobiology of disease · 2020Article
- SYNE1-QK1 SNPs, G × G and G × E interactions on the risk of hyperlipidaemia.Journal of cellular and molecular medicine · 2020Article
- Prevalence of clinically actionable disease variants in exceptionally long-lived families.BMC medical genomics · 2020Article
- Network Pharmacology-Based Strategy to Investigate the Pharmacological Mechanisms ofEvidence-based complementary and alternative medicine : eCAM · 2020Article
- Genetic and epigenetic regulation of human aging and longevity.Biochimica et biophysica acta. Molecular basis of disease · 2019Review
- Facing up to the global challenges of ageing.Nature · 2018Review
- Genetics: Healthy ageing, the genome and the environment.Nature reviews. Endocrinology · 2016Article
Corrections and comments
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Authors and funding
15 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundThe Long Life Family Study (LLFS) is an international study to identify the genetic components of various healthy aging phenotypes. We hypothesized that pedigree-specific rare variants at longevity-associated genes could have a similar functional impact on healthy phenotypes.
methodsWe performed custom hybridization capture sequencing to identify the functional variants in 464 candidate genes for longevity or the major diseases of aging in 615 pedigrees (4,953 individuals) from the LLFS, using a multiplexed, custom hybridization capture. Variants were analyzed individually or as a group across an entire gene for association to aging phenotypes using family based tests.
resultsWe found significant associations to three genes and nine single variants. Most notably, we found a novel variant significantly associated with exceptional survival in the 3' UTR OBFC1 in 13 individuals from six pedigrees. OBFC1 (chromosome 10) is involved in telomere maintenance, and falls within a linkage peak recently reported from an analysis of telomere length in LLFS families. Two different algorithms for single gene associations identified three genes with an enrichment of variation that was significantly associated with three phenotypes (GSK3B with the Healthy Aging Index, NOTCH1 with diastolic blood pressure and TP53 with serum HDL).
conclusionsSequencing analysis of family-based associations for age-related phenotypes can identify rare or novel variants.
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