rs187084

This variant is located in the TLR9 gene.

GWAS Catalog Trait Associations (3)

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

BMI-adjusted waist-hip ratio

Allele G
OR 0.02
p 3.0e-14
N 219,872
Major Consortium StudyLarge GWAS
European

intelligence

Allele A
OR 6.05
p 1.0e-9
N 300,486
Large GWAS
European

BMI-adjusted waist circumference

Allele G
OR 0.02
p 2.0e-9
N 186,825
Major Consortium StudyLarge GWAS
European

Research that mentions this SNP (7)

Correlation between TLR2,TLR3,TLR4, and TLR9 polymorphisms and susceptibility to and prognosis of severe hepatitis among the newborns
AssociationN=275Xiao Qiu et al.(2018)· Journal of Clinical Laboratory Analysis

This case-control study investigated the association between TLR2, TLR3, TLR4, and TLR9 polymorphisms and susceptibility to and prognosis of severe hepatitis among 135 newborn cases and 140 healthy controls of Chinese Han ethnicity. Certain SNPs were associated with disease risk and prognosis, including rs1898830 (TLR2; OR=0.38 for favorable prognosis in AG carriers), rs1879026 (TLR3; OR=0.29 for GT carriers), and rs187084 and rs352139 (TLR9). The haplotype A-C-G-G-C-A-T showed increased susceptibility (OR=4.11), while this haplotype was associated with favorable prognosis when present.

Traits studied:Neonatal severe hepatitisPrognosis of severe hepatitisSusceptibility to severe hepatitis
The role of TLR9 polymorphism in susceptibility to pulmonary tuberculosis
FunctionalN=300Deepak Bharti et al.(2014)· Immunogenetics

This study investigates the role of TLR9 rs187084 (T-1486C) polymorphism in pulmonary tuberculosis susceptibility. Functional analysis showed that the C allele increases TLR9 transcriptional activity and IP-10 production (a TB biomarker) but decreases protective cytokines IFN-γ and TNF-α. Genotype analysis of three Central Indian tribes revealed the C allele frequency was significantly lower in the TB-resistant Baiga tribe (18%) compared to Gond and Korku tribes (41-42%), supporting rs187084 as a potential TB susceptibility variant.

Traits studied:Pulmonary tuberculosis
Contribution of toll-like receptor 9 gene single-nucleotide polymorphism to systemic lupus erythematosus
AssociationN=775Piotr Piotrowski et al.(2013)· Rheumatology International

Case-control study examining the TLR9 C→T (rs352140) polymorphism in 254 Polish SLE patients and 521 controls. While the polymorphism was not associated with overall SLE risk (OR=1.414, p=0.0598), the T/T and T/C genotypes showed significant associations with renal disease (OR=2.949, p=0.001), immunologic disorders (OR=2.938, p=0.0012), and anti-dsDNA antibodies (OR=3.682, p=0.001) in SLE patients.

Traits studied:Anti-dsDNA antibodiesImmunologic disordersLupus nephritisRenal diseaseSystemic lupus erythematosus
The toll‐like receptor 2 (TLR2) ‐196 to ‐174 del/ins polymorphism affects viral loads and susceptibility to hepatocellular carcinoma in chronic hepatitis C
ReviewHans‐Dieter Nischalke et al.(2012)· International Journal of Cancer

A systematic literature review examining the association between toll-like receptor (TLR) single nucleotide polymorphisms and susceptibility to hepatitis B virus (HBV) and hepatitis C virus (HCV) infection, including disease progression to liver cirrhosis and hepatocellular carcinoma. The review identifies polymorphisms in TLR2, TLR3, TLR4, TLR5, TLR7, TLR8, and TLR9 genes that affect viral susceptibility and disease outcomes, with mechanisms involving altered gene expression and immune signaling.

Traits studied:Chronic hepatitis BChronic hepatitis CHBV intrauterine transmissionHBV susceptibilityHBV-related HCCHBsAg clearanceHCV loadHCV recurrence after transplantationHCV spontaneous clearanceHCV susceptibilityHCV-related HCCHepatitis B virus (HBV) infectionHepatitis C virus (HCV) infectionHepatocellular carcinoma (HCC)Liver cirrhosis
Association of toll-like receptor 9 gene polymorphism in Chinese patients with systemic lupus erythematosus in Taiwan
AssociationN=378Chung-Ming Huang et al.(2012)· Rheumatology International

Case-control study of 167 Chinese SLE patients and 211 controls in Taiwan examining TLR9 gene polymorphisms. The TLR9 -1486 T/C (rs187084) polymorphism was significantly associated with SLE susceptibility (P < 0.001, OR = 2.23 for T allele), whereas rs2066807 showed no significant association. No associations were found between either TLR9 polymorphism and clinical severity or manifestations.

Traits studied:Lupus nephritisMucosal ulcerPhotosensitivitySLE susceptibilitySerositisSystemic lupus erythematosus
Polymorphisms in the toll-like receptor 9 gene associated with sepsis and multiple organ dysfunction after major blunt trauma
AssociationN=557Chen KH et al.(2011)· British Journal of Surgery

This case-control association study of 557 Han Chinese trauma patients identified TLR9 gene polymorphisms rs187084 and rs352162 as significantly associated with increased sepsis morbidity (OR 1.36 and 1.40 respectively) and multiple organ dysfunction after major blunt trauma. Both SNPs were associated with elevated TNFα production by peripheral blood leucocytes in response to bacterial DNA stimulation, suggesting functional significance in TLR9-mediated immune activation.

Traits studied:Multiple organ dysfunctionSepsisTrauma-related complications
The investigation of toll-like receptor 3, 9 and 10 gene polymorphisms in Turkish rheumatoid arthritis patients
AssociationN=200Ebru Onalan Etem et al.(2011)· Rheumatology International

This case-control study of 100 Turkish rheumatoid arthritis (RA) patients and 100 healthy controls investigated associations between toll-like receptor (TLR) gene polymorphisms and RA risk. The TLR9 rs187084 (-1237 T/C) TT genotype was significantly associated with increased RA risk (p = 0.013, χ² = 8.698), and TT allele frequency was higher in patients versus controls (p = 0.003). No significant associations were found for TLR3 rs3775290 or TLR10 rs4129009 polymorphisms with RA or autoantibody production.

Traits studied:Rheumatoid arthritis

About TLR9

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. Studies in mice and human indicate that this receptor mediates cellular response to unmethylated CpG dinucleotides in bacterial DNA to mount an innate immune response. [provided by RefSeq, Aug 2017]

View all TLR9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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