Genetics & Longevity Variants
22 terms
- ACE I/D polymorphism
The ACE insertion/deletion (I/D) polymorphism (rs4646994) involves a 287-bp Alu repeat in intron 16 of the angiotensin-converting enzyme gene; the D allele is associated with…
- APOE ε4 allele (mechanism)
The APOE ε4 allele encodes apolipoprotein E isoform E4, which differs from the ε3 isoform at residue 112 (cysteine→arginine), altering lipoprotein binding preferences and…
- ATM (DNA-damage-response gene)
ATM (ataxia-telangiectasia mutated) encodes a serine/threonine protein kinase that is the master activator of the DNA damage response to double-strand breaks; upon activation it…
- CETP I405V variant
Cholesteryl ester transfer protein (CETP) mediates the exchange of cholesteryl esters from HDL for triglycerides in VLDL and LDL, effectively lowering HDL-cholesterol. The I405V…
- DNA repair pathways (NER, BER, HR, NHEJ)
DNA repair pathways are conserved mechanisms by which cells detect and correct genomic lesions — up to 100,000 per cell per day from endogenous sources (reactive oxygen species,…
- Epigenome-wide association study (EWAS)
An epigenome-wide association study (EWAS) is a hypothesis-free scan that tests associations between DNA methylation levels at hundreds of thousands of CpG sites…
- FOXO3 longevity variant
FOXO3 encodes a forkhead-box transcription factor that integrates signals from the insulin/IGF-1 and AMPK pathways to regulate stress resistance, autophagy, apoptosis, and…
- GWAS (Genome-wide association study)
A genome-wide association study (GWAS) is an agnostic scan of common single-nucleotide polymorphisms (SNPs, typically minor allele frequency >1–5%) across the genome to identify…
- Klotho KL-VS variant
The KL-VS haplotype of the klotho gene (six linked variants in complete linkage disequilibrium, two of which produce the amino-acid substitutions F352V and C370S in exon 2)…
- LMNA (Lamin A/C gene; HGPS)
LMNA encodes the nuclear lamina proteins Lamin A and Lamin C through alternative splicing; the lamins form a filamentous meshwork underlying the inner nuclear membrane that…
- Mitochondrial haplogroups
Mitochondrial haplogroups are clusters of maternally inherited mitochondrial DNA (mtDNA) haplotypes defined by shared polymorphisms, reflecting ancient migration patterns and…
- mtDNA heteroplasmy
mtDNA heteroplasmy is the coexistence of two or more distinct mitochondrial DNA sequences in a cell, tissue, or individual — wild-type mixed with mutant molecules. Heteroplasmy…
- MTHFR C677T variant
The C677T polymorphism (rs1801133) in methylenetetrahydrofolate reductase (MTHFR) encodes a thermolabile enzyme with reduced activity (~70% reduced activity / ~30% residual in TT…
- PCSK9 (gene and therapeutic target)
PCSK9 (proprotein convertase subtilisin/kexin type 9) is a serine protease secreted by hepatocytes that binds to the LDL receptor on the cell surface and directs it to lysosomal…
- Pharmacogenomics
Pharmacogenomics studies how genetic variation — primarily in drug-metabolizing enzymes, transporters, and drug targets — influences individual drug response in terms of efficacy…
- Polygenic risk score (PRS)
A polygenic risk score (PRS) is a weighted sum of an individual's risk-allele dosages across many SNPs associated with a trait, with weights typically derived from GWAS summary…
- Single-nucleotide polymorphism (SNP)
A single-nucleotide polymorphism (SNP, pronounced "snip") is a germline variation at a single base-pair position where two or more nucleotide alleles occur at a population…
- SIRT1 / SIRT3 / SIRT6 isoforms
Sirtuins are NAD⁺-dependent deacylases and ADP-ribosyltransferases; the three most studied longevity-relevant isoforms differ sharply in subcellular compartment and substrate…
- Somatic mutations and mosaicism
Somatic mutations are DNA changes arising post-zygotically in body cells rather than the germline, affecting only descendants of the cell where they occur. Every cell division…
- TERT / TERC variants
TERT (telomerase reverse transcriptase) and TERC (telomerase RNA component) together constitute the catalytic core of telomerase; TERT provides reverse-transcriptase activity…
- Whole-genome sequencing in aging research
Whole-genome sequencing (WGS) generates complete base-pair-resolution data across nuclear and mitochondrial DNA, enabling discovery of rare coding and non-coding variants,…
- WRN (Werner syndrome gene)
WRN encodes a member of the RecQ DNA helicase family with both helicase and exonuclease activities, involved in multiple DNA repair pathways including base excision repair,…