rs1126535
This is a synonymous variant in the CD40LG gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶Association study of CD154 polymorphisms and serum CD154 level with systemic lupus erythematous in Chinese populationAssociationN=770Yang Xiang et al.(2017)· Rheumatology International
This case-control study of 350 Chinese SLE patients and 420 healthy controls examined three CD154 gene polymorphisms. The rs1126535 C allele was associated with increased SLE risk (OR=2.1 for CC genotype, P<0.001) and significantly higher serum CD154 levels (12.78±4.35 ng/ml in CC vs 8.87±3.30 ng/ml in TT genotypes, P<0.05). The C-G-A haplotype across the three SNPs showed increased SLE risk (P=0.009), and rs1126535 polymorphism was associated with high disease activity.
▶Gene–gene interaction between CD40 and CD40L reduces bone mineral density and increases osteoporosis risk in womenAssociationN=811Pineda B. et al.(2011)· Osteoporosis International
Association study of CD40 and CD40L gene polymorphisms with bone mineral density (BMD) in 811 postmenopausal women. Women with the TT genotype for rs1883832 (CD40) showed reduced femoral neck and lumbar spine BMD (P=0.005, P=0.020). A strong gene-gene interaction was identified between rs1883832 and rs1126535 (CD40L); women homozygous for T alleles at both loci had significantly lower BMD and increased osteoporosis risk (OR=2.76 at femoral neck, P=0.006).
About CD40LG
The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM syndrome. [provided by RefSeq, Jul 2008]
View all CD40LG variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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