rs1024610
This is a regulatory region variant variant in the CCL2 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶The Frequency of Monocyte Chemoattractant Protein-1 Gene Polymorphism in Obstructive Sleep Apnea SyndromeAssociationN=301Buğra Kerget et al.(2019)· Lung
This case-control study of 301 subjects (201 OSAS patients and 100 controls) evaluated the association between MCP1 gene polymorphisms and coronary artery disease (CAD) in obstructive sleep apnea syndrome patients. The homozygous GG genotype of rs1024611 was significantly more prevalent in OSAS+CAD patients (70.3%) compared to OSAS-only (48.2%) and control groups (51%; p<0.001). rs1024610 showed no significant associations. The findings suggest MCP1 rs1024611 homozygous mutation is an independent risk marker for CAD development in OSAS patients.
About CCL2
This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. Elevated expression of the encoded protein is associated with severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) infection. [provided by RefSeq, Aug 2020]
View all CCL2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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