rs2229094
This is a variant in the LTA gene that changes a cysteine to an arginine.
▶GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
lymphocyte count
platelet-to-lymphocyte ratio
lymphocyte:monocyte ratio
leukocyte quantity
tumor necrosis factor amount
basophil count
neutrophil count
lymphocyte percentage of leukocytes
neutrophil-to-lymphocyte ratio
neudesin measurement
▶ClinVar annotation
▶Research that mentions this SNP (5)
▶Association of lymphotoxin‐alpha gene polymorphisms (rs909253, rs1800683 and rs2229094) and risk of large‐artery atherosclerosis stroke in Iranian populationAssociationAli Fasihi et al.(2020)· The Journal of Gene Medicine
Fasihi et al. investigated the association between three lymphotoxin-alpha (LTA) gene polymorphisms (rs909253, rs1800683, and rs2229094) and the risk of large-artery atherosclerosis stroke in an Iranian population. This case-control genetic association study examined whether these LTA variants contribute to stroke susceptibility in the Iranian cohort.
▶Genetic variation in the TLR and NF‐κB pathways and cervical and vulvar cancer risk: A population‐based case–control studyAssociationN=2,493Clara Bodelon et al.(2014)· International Journal of Cancer
Population-based case-control study of 876 cervical cancer cases, 517 vulvar cancer cases, and 1,100 controls examining genetic variation in TLR and NFκB pathways. The TNF region was significantly associated with cervical cancer (gene-based P=2.0×10⁻⁴) and vulvar cancer (gene-based P=1.0×10⁻⁴) risk. The rare A allele of rs2239704 in the LTA gene 5' UTR was significantly associated with increased cervical cancer risk (OR=1.31, 95% CI: 1.15–1.50) and vulvar cancer risk (OR=1.51, 95% CI: 1.30–1.75).
▶Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor statusAssociationN=2,416Yu‐Ling Cen et al.(2013)· Molecular Carcinogenesis
A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).
▶Association of TGFβ1 and clinical factors with scar outcome following melanoma excisionAssociationN=202Ward SV et al.(2012)· Archives of Dermatological Research
Genetic association study of 202 melanoma patients examining SNPs in 24 candidate genes related to pigmentation and wound healing in relation to scar outcome. SNP rs8110090 in TGFβ1 was significantly associated with poorer scar outcomes (p=0.0002). Clinical factors including younger age, shorter time since surgery, and presence of infection or eczema were also associated with worse scarring.
▶Obesity-dependent association of TNF-LTA locus with type 2 diabetes in North IndiansAssociationN=2,115Anubha Mahajan et al.(2010)· Journal of Molecular Medicine
This case-control association study examined six TNF-LTA locus variants in 2,115 North Indian subjects (1,073 type 2 diabetes patients, 1,042 controls). The TNF promoter variant rs1800630 and LTA non-synonymous variant rs2229094 showed obesity-dependent protection from type 2 diabetes (OR=0.83, P=0.005 and OR=0.86, P=0.02, respectively). The haplotype carrying all major alleles conferred susceptibility, with stronger effects in non-obese subjects (OR=1.45, P=2×10⁻⁴). The minor alleles were associated with lower BMI, waist circumference, and hsCRP.
About LTA
The encoded protein, a member of the tumor necrosis factor family, is a cytokine produced by lymphocytes. The protein is highly inducible, secreted, and forms heterotrimers with lymphotoxin-beta which anchor lymphotoxin-alpha to the cell surface. This protein also mediates a large variety of inflammatory, immunostimulatory, and antiviral responses, is involved in the formation of secondary lymphoid organs during development and plays a role in apoptosis. Genetic variations in this gene are associated with susceptibility to leprosy type 4, myocardial infarction, non-Hodgkin's lymphoma, and psoriatic arthritis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
View all LTA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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