ArticlePloS one2013
A common copy number variation (CNV) polymorphism in the CNTNAP4 gene: association with aging in females.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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11 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Extended genome-wide association study employing the African genome resources panel identifies novel susceptibility loci for Alzheimer's disease in individuals of African ancestry.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Pooled it
- The inverse relationship between copy number variation burden and age of onset of metabolic syndrome in Korean middle-aged adults.BMC medical genomics · 2026Article
- Genome-wide identification of copy number variations in wrinkled skin cases of Xiang pigs.Scientific reports · 2024Article
- Genome wide association study and genomic risk prediction of age related macular degeneration in Israel.Scientific reports · 2024Article
- Microglial targeted therapy relieves cognitive impairment caused byExploration (Beijing, China) · 2023Article
- Cntnap4 partial deficiency exacerbates α-synuclein pathology through astrocyte-microglia C3-C3aR pathway.Cell death & disease · 2023Article
- Article
- Article
- The correlation of copy number variations with longevity in a genome-wide association study of Han Chinese.Aging · 2018Article
- Mechanisms and consequences of aneuploidy and chromosome instability in the aging brain.Mechanisms of ageing and development · 2017Review
- Copy number variation associates with mortality in long-lived individuals: a genome-wide assessment.Aging cell · 2016Article
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundAging is a biological process strongly determined by genetics. However, only a few single nucleotide polymorphisms (SNPs) have been reported to be consistently associated with aging. While investigating whether copy number variations (CNVs) could fill this gap, we focused on CNVs that have not been studied in previous SNP-based searches via tagging SNPs.
methodsTaqMan qPCR assays were developed to quantify 20 common CNVs in 222 senior American Caucasians in order to reveal possible association with longevity. The replication study was comprised of 1283 community-dwelling senior European Caucasians. Replicated CNVs were further investigated for association with healthy aging and aging-related diseases, while association with longevity was additionally tested in Caenorhabditis elegans.
resultsIn the discovery study of ≥80 vs.<80 years old seniors, a homozygous intronic CNV deletion in the CNTNAP4 gene was inversely associated with survival to the age of 80 (OR=0.51, 95%CI 0.29-0.87, p=0.015 before correction for multiple testing). After stratification by sex, association remained significant in females (OR=0.41, 95%CI 0.21-0.77, p=0.007), but not in males (OR=0.97, 95%CI 0.33-2.79, p=1). The finding was validated in a replication study (OR=0.66, 95%CI 0.48-0.90, p=0.011 for females). CNTNAP4 association with longevity was supported by a marked 25% lifespan change in C. elegans after knocking down the ortholog gene. An inverse association of the CNV del/del variant with female healthy aging was observed (OR=0.39, 95%CI 0.19-0.76, p=0.006). A corresponding positive association with aging-related diseases was revealed for cognitive impairment (OR=2.17, 95%CI 1.11-4.22, p=0.024) and, in independent studies, for Alzheimer's (OR=4.07, 95%CI 1.17-14.14, p=0.036) and Parkinson's (OR=1.59, 95%CI 1.03-2.42, p=0.041) diseases.
conclusionThis is the first demonstration for association of the CNTNAP4 gene and one of its intronic CNV polymorphisms with aging. Association with particular aging-related diseases awaits replication and independent validation.
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