present in Gene: TOMM40
present in Chromosome: 19
Position on Chromosome: 44892362
Alleles of this Variant: A/G
rs2075650 in
TOMM40 gene and
Age related macular degeneration
PMID 23326517 2013 GWAS meta-analysis confirmed previously reported association of variants at the complement factor H (CFH) (peak P = 1.5×10(-31)) and age-related maculopathy susceptibility 2 (ARMS2) (P = 4.3×10(-24)) loci, and suggested Apolipoprotein E (ApoE) polymorphisms (rs2075650; P = 1.1×10(-6)) associated with early AMD.
PMID 22694956 2012 Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
rs2075650 in
TOMM40 gene and
Alzheimer's Disease
PMID 24770881 2014 ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.
PMID 26993346 2016 Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.
PMID 30636644 2019 Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities.
PMID 20460622 2010 Genome-wide analysis of genetic loci associated with Alzheimer disease.
PMID 22005930 2012 Genome-wide association study of Alzheimer's disease with psychotic symptoms.
PMID 20061627 2010 Genome-wide scan of copy number variation in late-onset Alzheimer's disease.
PMID 20885792 2010 Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
PMID 29107063 2018 Hidden heterogeneity in Alzheimer's disease: Insights from genetic association studies and other analyses.
PMID 19734903 2009 Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.
PMID 22005931 2012 Genome-wide association analysis of age-at-onset in Alzheimer's disease.
PMID 22832961 2012 Genome-wide association study of Alzheimer's disease.
PMID 19734902 2009 Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.
PMID 21379329 2011 Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE.
PMID 21098978 2011 Identification of novel candidate genes for Alzheimer's disease by autozygosity mapping using genome wide SNP data.
PMID 24755620 2014 Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.
PMID 19136949 2009 Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease.
PMID 21123754 2011 Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort.
PMID 21460841 2011 Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
rs2075650 in
TOMM40 gene and
Autoantibody measurement
PMID 19734900 2009 Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.
rs2075650 in
TOMM40 gene and
Body mass index
PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.
PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
PMID 26426971 2015 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.
PMID 25673413 2015 Genetic studies of body mass index yield new insights for obesity biology.
rs2075650 in
TOMM40 gene and
Body mass index procedure
PMID 23001569 2013 At an array-wide significance (P < 2.40E-06), we identify novel BMI associations in loci translocase of outer mitochondrial membrane 40 homolog (yeast) - apolipoprotein E - apolipoprotein C-I (TOMM40-APOE-APOC1) (rs2075650, P = 2.95E-10), sterol regulatory element binding transcription factor 2 (SREBF2, rs5996074, P = 9.43E-07) and neurotrophic tyrosine kinase, receptor, type 2 [NTRK2, a brain-derived neurotrophic factor (BDNF) receptor gene, rs1211166, P = 1.04E-06] in the Phase IV meta-analysis.
rs2075650 in
TOMM40 gene and
C-reactive protein measurement
PMID 18439552 2008 Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.
PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
PMID 23844046 2013 Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?
PMID 23505291 2013 Gene-centric analysis identifies variants associated with interleukin-6 levels and shared pathways with other inflammation markers.
PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.
rs2075650 in
TOMM40 gene and
Longevity
PMID 21418511 2011 Genome-wide association study identifies a single major locus contributing to survival into old age; the APOE locus revisited.
PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.
rs2075650 in
TOMM40 gene and
Serum LDL cholesterol measurement
PMID 23100282 2013 Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study.