Table 1 |.
Genetic variants associated with parental lifespan
| rsID (effect allele) | Effecta | Mapped genes | Gene name | Variant position | Associated disease | |
|---|---|---|---|---|---|---|
| Loci significant in bothb GWAS meta-analyses31,32 | ||||||
| rs429358 (T) | 1.06 | APOE | Apolipoprotein E | Missense | Cardiometabolic, dementia | |
| rs10455872 (A) | 0.76 | LPA | Lipoprotein A | Intronic | Cardiometabolic | |
| rs8042849 (T) c | 0.44 | CHRNA3/5 | Cholinergic receptor nicotinic α3/5 subunit | Intronic | Smoking related | |
| rs142158911 (A) | 0.36 | LDLR | Low-density lipoprotein receptor | Intergenic | Cardiometabolic | |
| rs11065979 (C) d | 0.28 | SH2B3, ATXN2 | SH2B adaptor protein 3, ataxin 2 | Intergenic | Cardiometabolic, cancer, autoimmunitye | |
| rs1556516 (G) | 0.25 | CDKN2B-AS1 | CDKN2B antisense RNA 1 | Intronic | Cardiometabolic, cancere | |
| Loci significant only in the UK Biobank and LifeGen cohorts 31 | ||||||
| rs34967069 (T) | 0.56 | HLA-DQA1 | Major histocompatibility complex, class II, DQ alpha 1 | Intergenic | Autoimmune | |
| rs1230666 (G) | 0.32 | MAGI3 | Membrane associated guanylate kinase, WW and PDZ domain containing 3 | Intronic | Autoimmune | |
| rs12924886 (A) | 0.28 | HP | Haptoglobin | Intergenic | Cardiometabolic | |
| rs1275922 (G) | 0.26 | KCNK3 | Potassium two pore domain channel subfamily K member 3 | Intronic | Cardiometabolic | |
| rs6224 (G) f | 0.25 | FURIN/FES | Furin, paired basic amino acid cleaving enzyme | Intronic | Cardiometabolic | |
| rs61348208 (T) | 0.23 | HTT | Huntingtin | Intronic | NR | |
| Loci significant only in the UK Biobank and AncestryDNA cohorts 32 | ||||||
| rs7844965 (G) g | 0.25 | EPHX2 | Epoxide hydrolase 2 | intronic | NR | |
| rs4774495 (G) g | 0.23 | SEMA6D | Semaphorin 6D | intronic | NR | |
| rs599839 (G)g | 0.21 | CELSR2, PSRC1 | Cadherin EGF LAG seven-pass G-type receptor 2, proline and serine rich coiled-coil 1 | intergenic | Cardiometabolic | |
| rs3131621 (G) g | 0.20 | MICA/B | MHC class I polypeptide-related sequence A/B | intergenic | NR | |
| rs15285 (G) g | 0.18 | LPL | Lipoprotein lipase | 3’ UTR | Cardiometabolic | |
| rs9872864 (G) h | 0.14 | IP6K1 | Inositol hexakisphosphate kinase 1 | intronic | NR | |
GWAS, genome-wide association study; NR , none reported; rsID, Reference SNP cluster ID; UTR , untranslated region.
a
Effect, years added to lifespan of parents (from LifeGen analysis31).
b
rsID (effect allele) and ‘Effect’ information from LifeGen analysis31. The AncestryDNA analysis may have reported a different lead SNP for the same locus.
c
Intron variant of the HYKK gene in the CHRNA3/5 locus.
d
Variant located between ATXN2 and BRAP but is correlated (R2 > 0.8) with missense variant in SH2B3.
e
Not exhaustive list.
f
Located in the intron of gene FURIN.
g
Significantly associated with fathers’ lifespan, not mothers’.
h
Significantly associated with mothers’ lifespan, not fathers’.