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rs4986790

From SNPedia

influences a wide variety of both infectious and non-infectious diseases
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;G) None
(G;G) 2.5 complex; numerous associations reported
ReferenceGRCh38 38.1/141
Chromosome9
Position117713024
GeneTLR4
is asnp
is mentioned by
dbSNPrs4986790
ebirs4986790
HLIrs4986790
Exacrs4986790
Varsomers4986790
Maprs4986790
PheGenIrs4986790
hapmaprs4986790
1000 genomesrs4986790
hgdprs4986790
ensemblrs4986790
gopubmedrs4986790
geneviewrs4986790
scholarrs4986790
googlers4986790
pharmgkbrs4986790
gwascentralrs4986790
openSNPrs4986790
23andMers4986790
23andMe allrs4986790
SNP Nexus

SNPshotrs4986790
SNPdbers4986790
MSV3drs4986790
GWAS Ctlgrs4986790
GMAF0.04408
Max Magnitude2.5
? (A;A) (A;G) (G;G) 28
rs4986790, a SNP also known as Asp299Gly (and also 896A/G) in the TLR4 gene, is often studied along with a cosegregating SNP known as Thr399Ile, rs4986791. (TLR4 encodes a receptor involved in the innate immune response.) Together, these SNPs have been reported to be associated with a wide variety of both infectious and non-infectious diseases, although there are conflicting or even contradictory results also reported in some cases. The risk allele for rs4986790 is (G).

Reported associations include [PMID 15766650]:

  • Heart disease
    • Men with the risk alleles for both SNPs are at increased risk for myocardial infarction in this study of over 2000 individuals. [PMID 15576653]
    • rs4986790(G) carriers are not at increased risk for myocardial infartions, at least in this study of ~200 individuals. [PMID 15547160]
    • rs4986790(G) carriers are less likely to have heart attacks, in this study of ~400 individuals. [PMID 14563652]
    • Individuals with the risk alleles for both SNPs have a lower incidence of carotid stenosis [PMID 12124407]
  • Asthma
    • Although not seen to influence the incidence of developing asthma, rs4986790(G) carriers who had asthma are reported to be more severely affected. [PMID 14735148]
  • Alzheimer's disease
    • A study of 626 Northern Italian Alzheimer patients (427 women and 199 men; age range: 53-98 years; mean age: 74.88 +/- 8.44) found that rs4986790 was associated with increased risk for the disease.[PMID 18991680][PMID 19006850]

Results of three independent samples did not confirm previously reported association of rs4986790 with AMD, individually or combined.[PMID 19628747OA-icon.png]

OMIM603030
DescENDOTOXIN HYPORESPONSIVENESS
Variant0001
Relatedalso
Neighborrs4986791
Distance300
[PMID 19267370OA-icon.png] Association of IL10 and Other immune response- and obesity-related genes with prostate cancer in CLUE II.


[PMID 19531762] Association Between Toll-like Receptor 4 Gene Polymorphism and Biopsy-proven Giant Cell Arteritis


[PMID 19922963] A functional nonsynonymous toll-like receptor 4 gene polymorphism is associated with metabolic syndrome, surrogates of insulin resistance, and syndromes of lipid accumulation



[PMID 21125016OA-icon.png] The D299G/T399I Toll-Like Receptor 4 Variant Associates with Body and Liver Fat: Results from the TULIP and METSIM Studies


[PMID 21306745] Polymorphisms in Toll-like receptor 4 are associated with factors of the metabolic syndrome and modify the association between dietary saturated fat and fasting high-density lipoprotein cholesterol


[PMID 21081146] Impact of Toll-like receptor 4 polymorphisms on risk of cancer


[PMID 21837802] Confirmation of an association between single nucleotide polymorphisms in the VDR gene with respiratory syncytial virus related disease in South African Children


[PMID 22348075OA-icon.png] Influence of Common Non-Synonymous Toll-like Receptor 4 Polymorphisms on Bronchopulmonary Dysplasia and Prematurity in Human Infants


[PMID 22615793OA-icon.png] Investigation of Host Candidate Malaria-Associated Risk/Protective SNPs in a Brazilian Amazonian Population


[PMID 22645142OA-icon.png] Variants of Toll-like receptor 4 predict cardiac recovery in patients with dilated cardiomyopathy


[PMID 22662111OA-icon.png] Polymorphisms in Toll-Like Receptors 2, 4, and 9 Are Highly Associated with Hearing Loss in Survivors of Bacterial Meningitis


[PMID 22737602OA-icon.png] Loss-of-function alleles of P2RX7 and TLR4 fail to affect the response to chemotherapy in non-small cell lung cancer.


ClinVar
Risk rs4986790(G;G)
Alt rs4986790(G;G)
Reference rs4986790(A;A)
Significance Non-pathogenic
Disease TLR4 POLYMORPHISM
Variation info
Gene TLR4
CLNDBN TLR4 POLYMORPHISM
Reversed 0
HGVS NC_000009.11:g.120475302A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007040.4,



[PMID 15726497OA-icon.png] Gene-environment interaction effects on the development of immune responses in the 1st year of life.


[PMID 16820586OA-icon.png] Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery.


[PMID 16846490OA-icon.png] Lemierre's syndrome and genetic polymorphisms: a case report.


[PMID 16859562OA-icon.png] Do host genetic traits in the bacterial sensing system play a role in the development of Chlamydia trachomatis-associated tubal pathology in subfertile women?


[PMID 16954131] Toll-like receptor 4 gene polymorphisms and myocardial infarction: no association in a Caucasian population.


[PMID 17062130OA-icon.png] Polymorphisms within inflammatory genes and colorectal cancer.


[PMID 17327408OA-icon.png] Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival.


[PMID 17592300OA-icon.png] Genetic polymorphisms and the risk of infection following esophagectomy. positive association with TNF-alpha gene -308 genotype.


[PMID 17668374OA-icon.png] Combining evidence of natural selection with association analysis increases power to detect malaria-resistance variants.


[PMID 17699831OA-icon.png] Toll-like receptor 4 polymorphism associated with the response to whole-cell pertussis vaccination in children from the KOALA study.


[PMID 17708757OA-icon.png] Genome bioinformatic analysis of nonsynonymous SNPs.


[PMID 17827388OA-icon.png] Genetic variation in 1253 immune and inflammation genes and risk of non-Hodgkin lymphoma.


[PMID 18062835OA-icon.png] Novel insight in the association between salmonellosis or campylobacteriosis and chronic illness, and the role of host genetics in susceptibility to these diseases.


[PMID 18172114OA-icon.png] Comprehensive analysis of the candidate genes CCL2, CCR2, and TLR4 in age-related macular degeneration.


[PMID 18298826OA-icon.png] Association between variations in the TLR4 gene and incident type 2 diabetes is modified by the ratio of total cholesterol to HDL-cholesterol.


[PMID 18307517OA-icon.png] Common studied polymorphisms do not affect plasma cytokine levels upon endotoxin exposure in humans.


[PMID 18325643OA-icon.png] Associations between SNPs in toll-like receptors and related intracellular signaling molecules and immune responses to measles vaccine: preliminary results.


[PMID 18382655OA-icon.png] Maternal TLR4 and NOD2 gene variants, pro-inflammatory phenotype and susceptibility to early-onset preeclampsia and HELLP syndrome.


[PMID 18396467OA-icon.png] Genetic variation and haplotype structures of innate immunity genes in eastern India.


[PMID 18422738OA-icon.png] Study of Toll-like receptor gene loci in sarcoidosis.


[PMID 18549840OA-icon.png] Cholesterol ester transfer protein, interleukin-8, peroxisome proliferator activator receptor alpha, and Toll-like receptor 4 genetic variations and risk of incident nonfatal myocardial infarction and ischemic stroke.


[PMID 18633131OA-icon.png] Host immune gene polymorphisms in combination with clinical and demographic factors predict late survival in diffuse large B-cell lymphoma patients in the pre-rituximab era.


[PMID 18635889OA-icon.png] Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis.


[PMID 18753640OA-icon.png] Toll-like receptor 3 and geographic atrophy in age-related macular degeneration.


[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.


[PMID 18975326] Toll-like receptor 2 variants are associated with acute reactive arthritis.


[PMID 19029192OA-icon.png] A pooled investigation of Toll-like receptor gene variants and risk of non-Hodgkin lymphoma.


[PMID 19066394OA-icon.png] Organochlorine exposure, immune gene variation, and risk of non-Hodgkin lymphoma.


[PMID 19131814OA-icon.png] Variation in the TLR4 gene influences the risk of organ failure and shock posttrauma: a cohort study.


[PMID 19134200OA-icon.png] No evidence of major effects in several Toll-like receptor gene polymorphisms in rheumatoid arthritis.


[PMID 19277200OA-icon.png] Toll-like receptor 4 (TLR4) and typhoid fever in Vietnam.


[PMID 19337058OA-icon.png] CD14-159C/T and TLR9-1237T/C polymorphisms are not associated with gastric cancer risk in Caucasian populations.


[PMID 19505919OA-icon.png] Toll-like receptor signaling pathway variants and prostate cancer mortality.


[PMID 19543401OA-icon.png] Toll-like receptor polymorphisms and susceptibility to urinary tract infections in adult women.


[PMID 19586676OA-icon.png] Multiple variants in toll-like receptor 4 gene modulate risk of liver fibrosis in Caucasians with chronic hepatitis C infection.


[PMID 20011079OA-icon.png] Lack of association between toll-like receptor 4 gene polymorphisms and sarcoidosis-related uveitis in Japan.


[PMID 20016852OA-icon.png] Genetic variation of the human urinary tract innate immune response and asymptomatic bacteriuria in women.


[PMID 20026892] [Association of Toll-like receptor gene with Crohn's disease in Koreans].


[PMID 20200442OA-icon.png] Sequence variants in the TLR4 and TLR6-1-10 genes and prostate cancer risk. Results based on pooled analysis from three independent studies.


[PMID 20525286OA-icon.png] Influence of genetic variations in TLR4 and TIRAP/Mal on the course of sepsis and pneumonia and cytokine release: an observational study in three cohorts.


[PMID 20646321OA-icon.png] Toll-like receptor (TLR) and nucleosome-binding oligomerization domain (NOD) gene polymorphisms and endometrial cancer risk.


[PMID 20671584] Toll-like receptor 4 gene polymorphisms show no association with the risk of clinical or angiographic restenosis after percutaneous coronary intervention.


[PMID 20818961] Inflammatory mediators gene polymorphisms in preeclampsia.


[PMID 21214494] Molecular pathogenesis of endometriosis; Toll-like receptor-4 A896G (D299G) polymorphism: a novel explanation.


[PMID 21385363OA-icon.png] Polymorphisms in genes controlling inflammation and tissue repair in rheumatoid arthritis: a case control study.


[PMID 22300618] Toll-like 4 receptor variant, Asp299Gly, and reduced risk of hemorrhagic cystitis after hematopoietic stem cell transplantation.


[PMID 22360682OA-icon.png] Lack of Association Between TLR4 rs4986790 Polymorphism and Risk of Cardiovascular Disease in Patients with Rheumatoid Arthritis.


GET Evidence
TLR4-D299G
aa_change Asp299Gly
aa_change_short D299G
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0650679
summary



[PMID 23084080] The TLR4 gene polymorphisms and susceptibility to cancer: A systematic review and meta-analysis


[PMID 23093310] Toll Like Receptor 4 D299G Associates with Disease Progression in Caucasian Patients with Chronic HBV Infection: Relationship with Gender


[PMID 22691414OA-icon.png] Role of polymorphisms of toll-like receptor (TLR) 4, TLR9, toll-interleukin 1 receptor domain containing adaptor protein (TIRAP) and FCGR2A genes in malaria susceptibility and severity in Burundian children


[PMID 22494793] Innate immunity gene single nucleotide polymorphisms and otitis media


[PMID 23151015OA-icon.png] Toll-like receptor 3 gene polymorphisms and severity of pandemic A/H1N1/2009 influenza in otherwise healthy children


[PMID 23179660OA-icon.png] Prospective study of effect modification by Toll-like receptor 4 variation on the association between Trichomonas vaginalis serostatus and prostate cancer


[PMID 22809755] Immune defense single nucleotide polymorphisms and recruitment strategies associated with contact lens keratitis


[PMID 23420357] Meta-analysis demonstrates association between TLR polymorphisms and rheumatoid arthritis


[PMID 23086128] Profiles of gene polymorphisms in cytokines and Toll-like receptors with higher risk for gastric cancer


[PMID 23021866OA-icon.png] Toll-like receptor gene variants associated with bacterial vaginosis among HIV-1 infected adolescents


[PMID 23349936OA-icon.png] Determinants of serum concentrations of lipopolysaccharide-binding protein (LBP) in the adult population: the role of obesity


[PMID 23867959OA-icon.png] Toll-like receptor genetic variants are associated with Gram-negative infections in VLBW infants


[PMID 24028589] TLR2, TLR3, TLR4 and CD14 gene polymorphisms associated with oral lichen planus risk


[PMID 24447403] TLR4 polymorphism is not associated with biopsy proven giant cell arteritis


[PMID 22573572] Phenotype-genotype profiles in Crohn's disease predicted by genetic markers in autophagy-related genes (GOIA study II).


[PMID 22740716] Toll-like receptor and hepatitis B virus clearance in chronic infected patients: a long-term prospective cohort study in Taiwan.


[PMID 23161283OA-icon.png] SNPs in toll-like receptor (TLR) genes as new genetic alterations associated with congenital toxoplasmosis?


[PMID 23289617] Genetic variation of TLR2 and TLR4 among the Saudi Arabian population: insight into the evolutionary dynamics of the Arabian Peninsula.


[PMID 23417289] Coding variants of TLR2 and TLR4 genes do not substantially contribute to prosthetic joint infection.


[PMID 23447684OA-icon.png] Impaired TLR5 functionality is associated with survival in melioidosis.


[PMID 23455702] TLR4, IL10RA, and NOD2 mutation in paediatric Crohn's disease patients: an association with Mycobacterium avium subspecies paratuberculosis and TLR4 and IL10RA expression.


[PMID 23459936OA-icon.png] Exploring the genetic basis of chronic periodontitis: a genome-wide association study.


[PMID 24803744OA-icon.png] Evidences of +896 A/G TLR4 Polymorphism as an Indicative of Prevalence of Complications in T2DM Patients


[PMID 25177689OA-icon.png] The Association of Toll-Like Receptor 4 Polymorphism with Hepatitis C Virus Infection in Saudi Arabian Patients


[PMID 25213166] An association between single nucleotide polymorphisms within TLR and TREM-1 genes and infective endocarditis


[PMID 24349054OA-icon.png] No correlation between PNPLA3 rs738409 genotype and fatty liver and hepatic cirrhosis in Japanese patients with HCV


[PMID 25675790] [Incidence of odontogenic phlegmon, associated with polymorph variant 896A/G of gene TLR4, but not 2258G/A of gene TLR2]


[PMID 18275280] Polymorphisms in Toll-Like Receptor Genes and Susceptibility to Pulmonary Aspergillosis


[PMID 26015800OA-icon.png] Association of Toll-like receptor 4 polymorphism with age-dependent systolic blood pressure increase in patients with coronary artery disease


[PMID 25360682OA-icon.png] Polymorphisms of an innate immune gene, toll-like receptor 4, and aggressive prostate cancer risk: a systematic review and meta-analysis


[PMID 26174031] TLR4 Asp299Gly polymorphism may be protective against chronic periodontitis


[PMID 25422198] Polymorphic variation of inflammation-related genes and risk of non-Hodgkin lymphoma for Uygur and Han Chinese in Xinjiang


[PMID 26435700OA-icon.png] Obesity-associated hypertension is ameliorated in patients with TLR4 single nucleotide polymorphism (SNP) rs4986790


[PMID 26846412] Ancestry informative markers and selected single nucleotide polymorphisms in immunoregulatory genes on preterm labor and preterm premature rupture of membranes: a case control study.


[PMID 26919710] Variations in genes involved in regulation of the nuclear factor - κB pathway and the risk of acute myeloid leukaemia.


[PMID 25542762] Poststroke fatigue: hints to a biological mechanism.


[PMID 27155792] TLR2 and TLR4 polymorphisms in Southern Chinese Psoriasis Vulgaris patients.