rs5743618

This is a variant in the TLR1 gene that changes a serine to an isoleucine.

▶

GWAS Catalog Trait Associations (15)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

interleukin-27 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.11

p 2.0e-71

N 47,745

Large GWAS

European

allergic disease

Ferreira MA et al. “Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.” Nature Genetics 49(12):1752-1757 (2017)

Allele C

OR 1.10

p 3.0e-58

N 360,838

Large GWAS

European

asthma

Han Y et al. “Genome-wide analysis highlights contribution of immune system pathways to the genetic architecture of asthma.” Nature Communications 11(1):1776 (2020)

Allele C

OR 1.10

p 7.0e-43

N 303,859

Large GWAS

European

Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)

Allele C

OR 0.05

p 4.0e-21

N 1,800,785

Meta-analysisLarge GWAS

multi-ancestry

Olafsdottir TA et al. “Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis.” Nature Communications 11(1):393 (2020)

Allele C

OR 1.06

p 4.0e-17

N 771,388

Large GWAS

European

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele C

OR 0.07

p 3.0e-11

N 625,448

Large GWAS

multi-ancestry

Valette K et al. “Prioritization of candidate causal genes for asthma in susceptibility loci derived from UK Biobank.” Communications Biology 4(1):700 (2021)

Allele C

OR 0.07

p 3.0e-17

N 408,422

Major Consortium StudyLarge GWAS

European

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.07

p 2.0e-21

N 394,626

Large GWAS

European

Ferreira MAR et al. “Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.” American Journal of Human Genetics 104(4):665-684 (2019)

Allele C

OR 1.10

p 2.0e-31

N 341,215

Large GWAS

European

Pividori M et al. “Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.” The Lancet. Respiratory Medicine 7(6):509-522 (2019)

Allele C

OR 1.58

p 5.0e-22

N 37,846

Large GWAS

European

childhood onset asthma

Allele C

OR 1.25

p 3.0e-32

N 327,670

Large GWAS

European

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele C

OR 0.07

p 2.0e-10

N 601,193

Large GWAS

multi-ancestry

allergic rhinitis

Waage J et al. “Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.” Nature Genetics 50(8):1072-1080 (2018)

Allele C

OR 1.11

p 4.0e-27

N 212,120

Large GWAS

multi-ancestry

seasonal allergic rhinitis

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.10

p 1.0e-23

N 394,626

Large GWAS

European

asthma, age at onset

Ferreira MAR et al. “Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.” American Journal of Human Genetics 104(4):665-684 (2019)

Allele C

OR 1.11

p 3.0e-21

N 28,835

Large GWAS

European

Death in infancy

Wu Y et al. “GWAS on birth year infant mortality rates provides evidence of recent natural selection.” Proceedings of the National Academy of Sciences of the United States of America 119(12):e2117312119 (2022)

Allele A

OR —

p 3.0e-19

N 330,340

Large GWAS

European

level of adhesion G protein-coupled receptor E1 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.06

p 7.0e-19

N 47,745

Large GWAS

European

toll-like receptor 1 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele A

OR 0.11

p 5.0e-14

N 10,708

Large GWAS

European

▶

ClinVar annotation

Benign

3 submitters4 publications

Leprosy, protection against; Leprosy, susceptibility to, 1; TLR1-related disorder

View on ClinVar →

▶

Research that mentions this SNP (5)

▶

IL17Agene polymorphisms, serum IL-17A and IgE levels, and hepatocellular carcinoma risk in patients with chronic hepatitis B virus infection

AssociationN=577Na Li et al.(2014)· Molecular Carcinogenesis

Immunogenetic study of pulmonary tuberculosis in a Spanish population (n=577), investigating HLA, KIR genes, and immune response genes. Found associations of HLA alleles (HLA-A*02, HLA-B*07, HLA-C*08, HLA-DRB1*04) with TB susceptibility/resistance, KIR gene distributions with TB progression, CCL5 promoter polymorphisms (rs2280788, rs2107538) with TB susceptibility, IL-17 rs2275913 -152G allele with increased TB risk (OR 1.40), TLR1 rs5743618 (T1805G) in recessive model, and Dectin-1/CARD9 haplotypes (rs3901533, rs7309123, rs16910526, rs4077515) associated with TB susceptibility.

Traits studied:Latent tuberculosis infectionPulmonary tuberculosisTuberculosis susceptibility

PubMed DOI Metascience Observatory

▶

Polymorphism of the rs1800896 IL10 promoter gene protects children from post-bronchiolitis asthma

AssociationN=166Petri Koponen et al.(2014)· Pediatric Pulmonology

A prospective cohort study of 166 children hospitalized for bronchiolitis at <6 months of age, followed to mean age 6.5 years. Non-RSV bronchiolitis (OR 3.74) and genetic variants in IL10 rs1800896, MBL2 (non-A/A genotype, OR 3.15), and TLR1 rs5743618 were associated with increased preschool asthma risk (12.7% prevalence). IL10 A/A genotype was protective (3.1% asthma).

Traits studied:Allergic rhinitisAsthma after early-life bronchiolitisAtopic dermatitisAtopy

PubMed DOI Metascience Observatory

▶

Identification of Genetic Loci Associated With Helicobacter pylori Serologic Status

AssociationN=10,938Julia Mayerle et al.(2013)· JAMA

GWAS meta-analysis of 10,938 participants identified two genome-wide significant loci associated with Helicobacter pylori seroprevalence: the TLR1 locus at 4p14 (rs10004195, OR=0.70, P=1.4×10^-18) and the FCGR2A locus at 1q23.3 (rs368433, OR=0.73, P=2.1×10^-8). Whole-blood transcriptome analysis revealed that rs10004195 is associated with differential expression of TLR1 (β=-0.23, P=2.1×10^-4), and individuals with high fecal H. pylori antigen titers exhibited elevated TLR1 expression levels.

Traits studied:H. pylori infection susceptibilityHelicobacter pylori seroprevalence

PubMed DOI Metascience Observatory

▶

Interleukin‐17 gene polymorphisms are associated with bladder cancer in a chinese han population

AssociationN=1,060Bin Zhou et al.(2013)· Molecular Carcinogenesis

A retrospective case-control study investigating immunogenetic factors in pulmonary tuberculosis (TBP) conducted in Cantabria, Spain with 318 TBP patients, 218 latently infected (ITL) individuals, and 524 healthy controls. Multiple HLA alleles and immune-related genetic polymorphisms were analyzed for association with TB susceptibility. Key findings include HLA-B07, B08, B14, B44 as protective factors against active disease; the IL-17 -152G allele (rs2275913) and GG genotype significantly more frequent in TBP patients (OR 1.40-1.59, p<0.02); TLR1 1805G polymorphism (rs5743618) associated with TB susceptibility; and KIR gene frequency variations between study groups.

Traits studied:Tuberculosis, Latent InfectionTuberculosis, Pulmonary

PubMed DOI Metascience Observatory

▶

Limited use of interleukin 28B in the setting of response-guided treatment with detailed on-treatment virological monitoring

ReviewAlessandra Mangia et al.(2011)· Hepatology

This is a special issue of the Italian medical journal BeAdfiles (September 2012) dedicated to genetic conditioning in HIV and hepatitis virus infections. It reviews the major genetic polymorphisms that influence disease progression, treatment response, and drug toxicity in HIV and chronic hepatitis B and C infections, with particular emphasis on IL28B polymorphisms (rs809917 and others) predicting HCV treatment response to interferon-alpha and ribavirin therapy, and ITPA gene variants protecting against ribavirin-induced anemia. The issue also covers pharmacogenetic markers (CYP2B6, ABCB1, HLA-B*5701) and their clinical applications in antiretroviral therapy.

Traits studied:AIDS progressionAntiretroviral therapy toxicityChronic hepatitis C sustained virological responseCreutzfeldt-Jakob diseaseDyslipidemiaEfavirenz side effectsHIV infection and progressionHepatitis B virus infectionHepatitis C genotype 1 response to interferonHepatitis C virus infectionHyperbilirubinemiaLeprosyLipodystrophyNeisseria meningitidis infectionNorovirus diarrheaPlasmodium falciparum malariaPlasmodium vivax malariaRenal impairmentRibavirin-induced anemiaTreatment response to interferon and ribavirinTuberculosis

PubMed DOI Metascience Observatory

About TLR1

The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq, Jul 2008]

rs5743618

GWAS Catalog Trait Associations (15)

interleukin-27 measurement

allergic disease

asthma

childhood onset asthma

allergic rhinitis

seasonal allergic rhinitis

asthma, age at onset

Death in infancy

level of adhesion G protein-coupled receptor E1 in blood

toll-like receptor 1 measurement

ClinVar annotation

Research that mentions this SNP (5)

About TLR1

Community Wiki

Comments