PMID 24468470 2014 We found 2 independent associations among European-Americans in the 19q13.32 region: rs769449 (APOE intron; p = 3.1 × 10(-20)) and rs115881343 (TOMM40 intron; p = 6.6 × 10(-11)). rs769449 was also associated with cognitive decline among African-Americans (p = 0.005), but rs115881343 was not.
rs2973488 in
CTNND2 gene and
Mental deterioration
PMID 22054870 2012 A genome-wide scan for common variants affecting the rate of age-related cognitive decline.
rs1556424691 in
CYTB;ND6;TRNT gene and
Mental deterioration
PMID 8511015 1993 Mitochondrial disorder associated with newborn cardiopulmonary arrest.
PMID 30236074 2018 Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.
PMID 29760464 2018 CO2-sensitive tRNA modification associated with human mitochondrial disease.
PMID 26063658 2015 Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
PMID 27164673 2016 Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL.
PMID 19387015 2009 Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.
PMID 25772074 2015 A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population.
PMID 25770224 2015 Loss of HtrA1-induced attenuation of TGF-β signaling in fibroblasts might not be the main mechanism of CARASIL pathogenesis.
rs267606959 in
POLG gene and
Mental deterioration
PMID 20883824 2011 Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
PMID 20142534 2010 A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
rs10073892 in
SLCO6A1 gene and
Mental deterioration
PMID 24468470 2014 Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.
rs312262717 in
SPG11 gene and
Mental deterioration
PMID 19194956 2009 SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.
rs73643144 in
TEK gene and
Mental deterioration
PMID 28078323 2017 Genetic architecture of age-related cognitive decline in African Americans.
rs115881343 in
TOMM40 gene and
Mental deterioration
PMID 24468470 2014 We found 2 independent associations among European-Americans in the 19q13.32 region: rs769449 (APOE intron; p = 3.1 × 10(-20)) and rs115881343 (TOMM40 intron; p = 6.6 × 10(-11)). rs769449 was also associated with cognitive decline among African-Americans (p = 0.005), but rs115881343 was not.
PMID 23207651 2014 A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.