rs1024611

minus

Geno	Mag	Summary
(C;C)	2.2	increased risk of exercise induced ischemia, Increased CCL2 levels; increased rate of HIV progression
(C;T)	2	increased risk of exercise induced ischemia
(T;T)	0	normal risk

Reference

GRCh38 38.1/142

Chromosome

17

Position

34252769

Gene

CCL2

is a	snp
is	mentioned by
dbSNP	rs1024611
dbSNP (classic)	rs1024611
ClinGen	rs1024611
ebi	rs1024611
HLI	rs1024611
Exac	rs1024611
Gnomad	rs1024611
Varsome	rs1024611
LitVar	rs1024611
Map	rs1024611
PheGenI	rs1024611
Biobank	rs1024611
1000 genomes	rs1024611
hgdp	rs1024611
ensembl	rs1024611
geneview	rs1024611
scholar	rs1024611
google	rs1024611
pharmgkb	rs1024611
gwascentral	rs1024611
openSNP	rs1024611
23andMe	rs1024611
SNPshot	rs1024611
SNPdbe	rs1024611
MSV3d	rs1024611
GWAS Ctlg	rs1024611

GMAF

0.4054

Max Magnitude

2.2

?

(C;C) (C;T) (T;T)

28

rs1024611, also known as the -2578A>G SNP due to its position in the promoter of the monocyte chemoattractant protein-1 MCP-1 CCL2 gene, influences the production of its corresponding protein, a chemokine involved in inflammatory responses.

In a study focusing on 679 apparently healthy siblings of people with premature heart disease, investigators found that carriers of an rs1024611(C) allele - oriented as in dbSNP, not as published - independently predicted the risk of exercise induced ischemia in general. The odds ratio was reported to be 1.86 (CI: 1.14-3.04, p=0.014), regardless of race, age, sex and other factors. However, it is not clear if this risk carries over to individuals who lack siblings with heart disease.[PMID 16934270]

discussed in the 23andMe blog as being relevant to HIV

[PMID 19032966] rs1024611 is not associated with systemic sclerosis in a multicenter study of 345 European patients

[PMID 23166687 ] [The rs1024611 regulatory region polymorphism is associated with CCL2 allelic expression imbalance]

OMIM	158105
Desc	CHEMOKINE, CC MOTIF, LIGAND 2; CCL2
Variant	0003
Related	also

OMIM	607948
Desc	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
Variant
Related	also

tuberculosis

[PMID 22142522] Lack of Association between rs1024611 (-2581 A/G) Polymorphism in CC-chemokine Ligand 2 and Susceptibility to Pulmonary Tuberculosis in Zahedan, Southeast Iran

[PMID 22117412] [Association of polymorphic markers of CCL2 gene with essential hypertension]

[PMID 22384203 ] MCP1 SNPs and Pulmonary Tuberculosis in Cohorts from West Africa, the USA and Argentina: Lack of Association or Epistasis with IL12B Polymorphisms

[PMID 22733495] Association of inflammatory chemokine gene CCL2I/D with bladder cancer risk in North Indian population

[PMID 16078996 ] Association study of functional genetic variants of innate immunity related genes in celiac disease.

[PMID 16672419 ] Polymorphisms in the genes encoding chemokine receptor 5, interleukin-10, and monocyte chemoattractant protein 1 contribute to cytomegalovirus reactivation and disease after allogeneic stem cell transplantation.

[PMID 16719905 ] Association study of genetic variants of pro-inflammatory chemokine and cytokine genes in systemic lupus erythematosus.

[PMID 17062130 ] Polymorphisms within inflammatory genes and colorectal cancer.

[PMID 17763208] Association of the -2510A/G chemokine (C-C motif) ligand 2 polymorphism with knee osteoarthritis in a Korean population.

[PMID 17848170 ] The chemokine network. II. On how polymorphisms and alternative splicing increase the number of molecular species and configure intricate patterns of disease susceptibility.

[PMID 17903293 ] Genome-wide association with select biomarker traits in the Framingham Heart Study.

[PMID 18464913 ] A genome-wide association study identifies protein quantitative trait loci (pQTLs).

[PMID 18698231 ] Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.

[PMID 18940815 ] MCP-1 promoter variant -362C associated with protection from pulmonary tuberculosis in Ghana, West Africa.

[PMID 19347053 ] Analysis of inflammation- and atherosclerosis-related gene polymorphisms in branch retinal vein occlusion.

[PMID 19357773 ] Common variants of inflammatory cytokine genes are associated with risk of nephropathy in type 2 diabetes among Asian Indians.

[PMID 19506371 ] Single nucleotide polymorphisms in monocyte chemoattractant protein-1 and its receptor act synergistically to increase the risk of carotid atherosclerosis.

[PMID 20111728 ] Joint effect of MCP-1 genotype GG and MMP-1 genotype 2G/2G increases the likelihood of developing pulmonary tuberculosis in BCG-vaccinated individuals.

[PMID 20111745 ] Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects.

[PMID 20125127] The -A2518G polymorphism of monocyte chemoattractant protein-1 is associated with Crohn's disease.

[PMID 20196868 ] Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.

[PMID 20339010] CCL2 and CCR2 polymorphisms are associated with markers of exercise-induced skeletal muscle damage.

[PMID 20622166 ] Combined effect of inflammatory gene polymorphisms and the risk of ischemic stroke in a prospective cohort of subjects with type 2 diabetes: a Go-DARTS study.

[PMID 20725607 ] CCL3 genotype and current depression increase risk of HIV-associated dementia.

[PMID 20811626 ] Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.

[PMID 22425139] Monocyte chemoattractant protein-1 in schizophrenia: -2518A/G genetic variant and protein levels in Armenian population.

[PMID 23166687 ] The rs1024611 Regulatory Region Polymorphism Is Associated with CCL2 Allelic Expression Imbalance

[PMID 23427179] Relationships of Single Nucleotide Polymorphisms of Monocyte Chemoattractant Protein 1 and Chemokine Receptor 2 With Susceptibility and Clinicopathologic Characteristics of Neoplasia of Uterine Cervix in Taiwan Women

[PMID 24023637 ] Gender-Specific Effects of Genetic Variants within Th1 and Th17 Cell-Mediated Immune Response Genes on the Risk of Developing Rheumatoid Arthritis

[PMID 24083412] Functional Genetic Polymorphisms of Monocyte Chemoattractant Protein 1 and C-C Chemokine Receptor Type 2 in Ischemic Stroke

[PMID 24382482] Polymorphism of monocyte chemoattractant protein -1 (MCP-1 -2518 A/G) and responsiveness to hepatitis B vaccination in hemodialysis patients

[PMID 24786287] No association between CCL2 gene polymorphisms and risk of inflammatory demyelinating diseases in a Korean population

[PMID 24968246] Relationship between MCP-1 promoter -2518 A/G gene polymorphism (rs1024611) and systemic lupus erythematosus/lupus nephritis

[PMID 25119828] The CC chemokine ligand 2 (CCL2) polymorphism -2518A/G is associated with gout in the Chinese Han male population

[PMID 25413568] The associations between the MCP-1 -2518 A/G polymorphism and ischemic heart disease and ischemic stroke: a meta-analysis of 28 research studies involving 21,524 individuals

ClinVar
Risk	Rs1024611(C;C)
Alt	Rs1024611(C;C)
Reference	Rs1024611(T;T)
Significance	Other
Disease	Spina bifida Coronary artery disease Coronary artery disease Mycobacterium tuberculosis
Variation	info
Gene
CLNDBN	Spina bifida, susceptibility to Coronary artery disease, modifier of Coronary artery disease, development of, in hiv Mycobacterium tuberculosis, susceptibility to
Reversed	1
HGVS	NC_000017.10:g.32579788A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015271.3, RCV000015272.27, RCV000015273.22, RCV000015274.3,

[PMID 25711033] [Association between inflanummatory gene polymorphisms and the risk of myocardial infarction]

[PMID 25289731] Functional polymorphisms in monocyte chemoattractant protein-1 are associated with increased susceptibility to ovarian cancer

[PMID 26244388 ] The role of chemokine C-C motif ligand 2 genotype and cerebrospinal fluid chemokine C-C motif ligand 2 in neurocognition among HIV-infected patients

[PMID 26662939] Genotype/allelic combinations as potential predictors of myocardial infarction.

[PMID 27472286] CCL2, CCL5, IL4 and IL15 Gene Polymorphisms in Women with Gestational Diabetes Mellitus.

[PMID 29696014 ] Genetic Polymorphism at CCL5 Is Associated With Protection in Chagas' Heart Disease: Antagonistic Participation of CCR1+ and CCR5+ Cells in Chronic Chagasic Cardiomyopathy.

[PMID 29995756 ] Association of MCP-1 rs1024611 polymorphism with diabetic foot ulcers.

[PMID 31388753] The Frequency of Monocyte Chemoattractant Protein-1 Gene Polymorphism in Obstructive Sleep Apnea Syndrome.

[PMID 32219866] Association of MCP-1 promotor polymorphism with disease severity of Crimean-Congo Hemorrhagic Fever.

[PMID 32421725 ] Association between single nucleotide polymorphisms (SNPs) of IL1, IL12, IL28 and TLR4 and symptoms of congenital cytomegalovirus infection.

[PMID 33422029 ] The impact of ICAM-1, CCL2 and TGM2 gene polymorphisms on differentiation syndrome in acute promyelocytic leukemia.