ArticleFrontiers in genetics2014
Genetic analysis of long-lived families reveals novel variants influencing high density-lipoprotein cholesterol.
Article in Frontiers in genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 18 citations in OpenAlex.
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- Discovering Biological Mechanisms of Exceptional Human Health Span and Life Span.Cold Spring Harbor perspectives in medicine · 2023Review
- Polymorphisms of the 11q23.3 Locus Affect the Risk and Mortality of Coronary Artery Disease.Journal of clinical medicine · 2022Article
- 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
- A multi-dimensional integrative scoring framework for predicting functional variants in the human genome.American journal of human genetics · 2022Article
- The Association between HDL-C and Subclinical Atherosclerosis Depends on CETP Plasma Concentration: Insights from the IMPROVE Study.Biomedicines · 2021Article
- Gene discovery for high-density lipoprotein cholesterol level change over time in prospective family studies.Atherosclerosis · 2020Article
- Genome-wide linkage analysis of carotid artery traits in exceptionally long-lived families.Atherosclerosis · 2019Article
- MARV: a tool for genome-wide multi-phenotype analysis of rare variants.BMC bioinformatics · 2017Article
- Impact of variants in CETP and apo AI genes on serum HDL cholesterol levels in men and women from the Polish population.Archives of medical science : AMS · 2016Article
- Investigation of Vitamin D-Binding Protein Polymorphism Impact on Coronary Artery Disease and Relationship with Longevity: Own Data and a Review.International journal of endocrinology · 2016Article
- A novel multi-tissue RNA diagnostic of healthy ageing relates to cognitive health status.Genome biology · 2015Article
- Emerging risk biomarkers in cardiovascular diseases and disorders.Journal of lipids · 2015Review
- Fine mapping theNPJ aging and mechanisms of disease · 2015Article
- Genetics of kidney disease and related cardiometabolic phenotypes in Zuni Indians: the Zuni Kidney Project.Frontiers in genetics · 2015Article
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
The plasma levels of high-density lipoprotein cholesterol (HDL) have an inverse relationship to the risks of atherosclerosis and cardiovascular disease (CVD), and have also been associated with longevity. We sought to identify novel loci for HDL that could potentially provide new insights into biological regulation of HDL metabolism in healthy-longevous subjects. We performed a genome-wide association (GWA) scan on HDL using a mixed model approach to account for family structure using kinship coefficients. A total of 4114 subjects of European descent (480 families) were genotyped at ~2.3 million SNPs and ~38 million SNPs were imputed using the 1000 Genome Cosmopolitan reference panel in MACH. We identified novel variants near-NLRP1 (17p13) associated with an increase of HDL levels at genome-wide significant level (p < 5.0E-08). Additionally, several CETP (16q21) and ZNF259-APOA5-A4-C3-A1 (11q23.3) variants associated with HDL were found, replicating those previously reported in the literature. A possible regulatory variant upstream of NLRP1 that is associated with HDL in these elderly Long Life Family Study (LLFS) subjects may also contribute to their longevity and health. Our NLRP1 intergenic SNPs show a potential regulatory function in Encyclopedia of DNA Elements (ENCODE); however, it is not clear whether they regulate NLRP1 or other more remote gene. NLRP1 plays an important role in the induction of apoptosis, and its inflammasome is critical for mediating innate immune responses. Nlrp1a (a mouse ortholog of human NLRP1) interacts with SREBP-1a (17p11) which has a fundamental role in lipid concentration and composition, and is involved in innate immune response in macrophages. The NLRP1 region is conserved in mammals, but also has evolved adaptively showing signals of positive selection in European populations that might confer an advantage. NLRP1 intergenic SNPs have also been associated with immunity/inflammasome disorders which highlights the biological importance of this chromosomal region.
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