rs352140
This is a synonymous variant in the TLR9 gene — it does not change the protein's amino acid sequence.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body height
Anxiety
cognitive domain measurement
▶Research that mentions this SNP (5)
▶Correlation between TLR2,TLR3,TLR4, and TLR9 polymorphisms and susceptibility to and prognosis of severe hepatitis among the newbornsAssociationN=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.
▶Contribution of toll-like receptor 9 gene single-nucleotide polymorphism to systemic lupus erythematosusAssociationN=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.
▶The toll‐like receptor 2 (TLR2) ‐196 to ‐174 del/ins polymorphism affects viral loads and susceptibility to hepatocellular carcinoma in chronic hepatitis CReviewHans‐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.
▶Association of toll-like receptor 9 gene polymorphism in Chinese patients with systemic lupus erythematosus in TaiwanAssociationN=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.
▶Polymorphisms in the toll-like receptor 9 gene associated with sepsis and multiple organ dysfunction after major blunt traumaAssociationN=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.
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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