Gene: TOMM40

Alternate names for this Gene: C19orf1|D19S1177E|PER-EC1|PEREC1|TOM40

Gene Summary: The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.32

Description of this Gene: translocase of outer mitochondrial membrane 40

Type of Gene: protein-coding

rs157582 in TOMM40 gene and Acute transient psychotic disorder PMID 22005930 2012 Genome-wide association study of Alzheimer's disease with psychotic symptoms.

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.

rs10119 in TOMM40 gene and Alzheimer's Disease PMID 21460841 2011 Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.

PMID 22832961 2012 Genome-wide association study of Alzheimer's disease.

PMID 19734903 2009 Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.

PMID 23565137 2013 SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.

PMID 24770881 2014 ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.

PMID 30617256 2019 Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.

PMID 30636644 2019 Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities.

PMID 29777097 2018 GWAS on family history of 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 20885792 2010 Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.

PMID 19125160 2010 Examination of the current top candidate genes for AD in a genome-wide association study.

PMID 21627779 2011 The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease.

PMID 24755620 2014 Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.

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 19136949 2009 Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease.

PMID 22005930 2012 Genome-wide association study of Alzheimer's disease with psychotic symptoms.

PMID 22005931 2012 Genome-wide association analysis of age-at-onset in Alzheimer's disease.

PMID 26993346 2016 Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.

PMID 20460622 2010 Genome-wide analysis of genetic loci associated with Alzheimer disease.

PMID 20061627 2010 Genome-wide scan of copy number variation in late-onset Alzheimer's disease.

PMID 29107063 2018 Hidden heterogeneity in Alzheimer's disease: Insights from genetic association studies and other analyses.

PMID 19734902 2009 Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.

PMID 21098978 2011 Identification of novel candidate genes for Alzheimer's disease by autozygosity mapping using genome wide SNP data.

PMID 26339675 2015 F-box/LRR-repeat protein 7 is genetically associated with Alzheimer's disease.

PMID 23419831 2014 APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.

PMID 30805717 2019 Shared genetic architecture between metabolic traits and Alzheimer's disease: a large-scale genome-wide cross-trait analysis.

rs157580 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.

rs10119 in TOMM40 gene and C-reactive protein measurement 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 22939635 2012 Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

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 23505291 2013 Gene-centric analysis identifies variants associated with interleukin-6 levels and shared pathways with other inflammation markers.

rs2075650 in TOMM40 gene and CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

rs2075650 in TOMM40 gene and Coronary Artery Disease PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

rs157580 in TOMM40 gene and Coronary heart disease PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

PMID 21966275 2011 Large-scale gene-centric analysis identifies novel variants for coronary artery disease.

rs2075650 in TOMM40 gene and Finding of body mass index PMID 23001569 2013 Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals.

rs1038026 in TOMM40 gene and High density lipoprotein measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 30805717 2019 Shared genetic architecture between metabolic traits and Alzheimer's disease: a large-scale genome-wide cross-trait analysis.

rs10119 in TOMM40 gene and Intelligence PMID 25644384 2015 Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949).

rs1160985 in TOMM40 gene and Lipids measurement PMID 23726366 2013 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

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 22279548 2012 Genetic signatures of exceptional longevity in humans.

rs1038026 in TOMM40 gene and Low density lipoprotein cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 23726366 2013 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

PMID 24386095 2013 A genome wide association study identifies common variants associated with lipid levels in the Chinese population.

PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

PMID 19060910 2009 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 18262040 2008 LDL-cholesterol concentrations: a genome-wide association study.

PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.

PMID 23100282 2013 Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study.

rs157582 in TOMM40 gene and Memory performance PMID 28800603 2017 Genetic variants specific to aging-related verbal memory: Insights from GWASs in a population-based cohort.

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.

rs157582 in TOMM40 gene and Metabolic Syndrome X PMID 22399527 2012 Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.

rs2075650 in TOMM40 gene and Posterior cortical atrophy syndrome PMID 26993346 2016 Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.

rs2075650 in TOMM40 gene and Prion Diseases PMID 22210626 2012 Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.

rs2075650 in TOMM40 gene and Pseudocholinesterase Measurement PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.

rs157580 in TOMM40 gene and Serum HDL cholesterol measurement PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

rs1160985 in TOMM40 gene and Serum LDL cholesterol measurement PMID 23726366 2013 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

PMID 19060910 2009 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 23100282 2013 Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study.

PMID 18262040 2008 LDL-cholesterol concentrations: a genome-wide association study.

PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

rs11556505 in TOMM40 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs1038026 in TOMM40 gene and Serum total cholesterol measurement PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 24386095 2013 A genome wide association study identifies common variants associated with lipid levels in the Chinese population.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs2075650 in TOMM40 gene and Smoking PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

rs2075650 in TOMM40 gene and Squamous cell carcinoma PMID 23103227 2012 Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese.

rs10119 in TOMM40 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 26582766 2016 Genetic Susceptibility to Lipid Levels and Lipid Change Over Time and Risk of Incident Hyperlipidemia in Chinese Populations.

PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

rs2075650 in TOMM40 gene and Waist Circumference PMID 25673412 2015 New genetic loci link adipose and insulin biology to body fat distribution.

rs2075650 in TOMM40 gene and Waist-Hip Ratio PMID 25673412 2015 New genetic loci link adipose and insulin biology to body fat distribution.