rs25882
This is a protein-altering variant in the CSF2 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
granulocyte-macrophage colony-stimulating factor measurement
COVID-19
▶Research that mentions this SNP (3)
▶Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association ConsortiumAssociationN=83,087Jieping Lei et al.(2016)· Human Genetics
A pooled analysis of 42,510 breast cancer cases and 40,577 controls from the Breast Cancer Association Consortium examined genetic variation in 3,595 SNPs across 133 immunosuppression pathway genes. The study identified SNP rs1905339 in STAT3 as significantly associated with increased breast cancer risk (OR 1.05, p=1.4×10⁻⁶). Gene-level analyses showed STAT3, IL5, and GM-CSF as novel susceptibility loci for breast cancer in women of European ancestry.
▶The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populationsAssociationN=3,608Matthew P. Johnson et al.(2009)· Human Genetics
A genetic association study identified the ERAP2 gene as a novel preeclampsia susceptibility locus on chromosome 5q using SNP genotyping in Australian/New Zealand families (n=480) and an independent Norwegian case-control cohort (1,139 cases, 2,269 controls). ERAP2 variants rs2549782 (Australian cohort, p uncorr=0.004, p corr=0.018) and rs17408150 (Norwegian cohort, p uncorr=0.009, p corr=0.039) showed significant experiment-wide corrected associations with preeclampsia. ERAP1 variants also showed borderline associations (rs3734016, p uncorr=0.009 in Australia; rs34750, p uncorr=0.011 in Norway).
▶Common variants in genes that mediate immunity and risk of multiple myelomaAssociationN=672Elizabeth E. Brown et al.(2007)· International Journal of Cancer
A case-control study of 127 multiple myeloma (MM) cases and 545 controls examined 82 common variants in 45 genes mediating immunity. IL4R rs2107356 (−28120T homozygotes, OR=1.91, 95% CI 1.08-3.38) and FCGR2A rs1801274 (−120G homozygotes, OR=1.95, 95% CI 1.06-3.60) were significantly associated with increased MM risk. A haplotype in the LTA*TNF complex (LTA −82C/−90G*TNF −1036C/−487G/−417G, OR=1.63, 95% CI 1.02-2.61) was also associated with increased MM risk compared to controls.
About CSF2
The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster of related genes at chromosome region 5q31, which is known to be associated with interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other genes in the cluster include those encoding interleukins 4, 5, and 13. This gene plays a role in promoting tissue inflammation. Elevated levels of cytokines, including the one produced by this gene, have been detected in SARS-CoV-2 infected patients that develop acute respiratory distress syndrome. Mice deficient in this gene or its receptor develop pulmonary alveolar proteinosis. [provided by RefSeq, Aug 2020]
View all CSF2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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