Table 1.

Example Human Genetic Studies of Aging, Longevity, Aging Syndromes and Relevant Endophenotypes

Phenotype	Reference	Study Type	Results
Telomere length	[42]	GWAS	Telomerase variations associated with telomere length
Healthy aging	[31]	Gene sequencing	Many variations identified in candidate genes
Telomere length	[59]	GWAS	Variations in the 18q12.2 region marginally associated
Healthy Nonagenarians	[14]	Candidate gene	Association with favorable lipoprotein phenotype and CETP variant
Nonagenarians	[54]	Candidate gene	AKT1 &FOXO3A variants associated/replicated in 3 cohorts
Age at Menarche	[60]	GWAS	SPOCK gene associated and replicated in 2 cohorts
Nonagenarians	[61]	Gene sequencing	Rare alleles in CDKN1A underrepresented in oldest
Centenarians	[62]	mtDNA sequencing	No lack of mtDNA mutations among Centenarians
Centenarians	[13]	Candidate gene	APOE and ACE variants associated with longevity
Centenarians	[63]	Candidate gene	APOC3 variant associated with longevity
Centenarians	[64]	Candidate gene	FOXO3A associated/replicated in 2 cohorts
Centenarian families	[42]	Candidate gene	TSHR variants/TSH levels associated with longevity
Lifespan in families	[28]	GWAS	No variations associated with lifespan/age-related traits
Werner's syndrome	[27]	Positional cloning	Identification of the Werner's syndrome gene
Werner's syndrome	[24]	Linkage analysis	Strong homozygosity-based linkage to chromosome 8