|(A;A)||2||more rapid progression to full-blown AIDS and probably increased susceptibility to HIV infection|
|(A;G)||1||possible reduced risk of acute coronary events|
|(G;G)||0||common on affy axiom data|
rs3732378, also known as c.935C>T, p.Thr280M or T280M, represents a variant in the CX3CR1 gene on chromosome 3. This variant is typically co-inherited as a haplotype with neighbouring SNP, rs3732379 (Val249Ile).
The protein receptor with both variant amino acids is known as CX3CR1-M280.
The minor alleles of this pair are associated with:
- more rapid progression to full-blown AIDS and probably increased susceptibility to HIV infection [PMID 10731151]
- reduced risk of acute coronary events [PMID 11264153]
- increased risk of age related macular degeneration [PMID 17909628]
- reduced anti-fungal immune response in Crohn's disease patients, at least for minor allele homozygotes [PMID 29326275]
[PMID 19372452] Fractalkine receptor/ligand genetic variants and carotid intima-media thickness
[PMID 21525510] Fractalkine is a novel human adipochemokine associated with type 2 diabetes
|Disease||Human immunodeficiency virus type 1 Coronary artery disease Age-related macular degeneration 12 MACULAR DEGENERATION|
|CLNDBN||Human immunodeficiency virus type 1, rapid progression to AIDS Coronary artery disease, resistance to Age-related macular degeneration 12 MACULAR DEGENERATION, AGE-RELATED, 12, SUSCEPTIBILITY TO|
|CLNSRC||OMIM Allelic Variant|
|CLNACC||RCV000008629.4, RCV000008630.4, RCV000022393.1, RCV000023109.4,|
[PMID 17672867] Polymorphisms in chemokine receptor genes and susceptibility to Kawasaki disease.
[PMID 17705862] Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.
[PMID 20041166] Common genetic variation and the control of HIV-1 in humans.
[PMID 20506646] [CX3CR1 polymorphism in patients with dilated cardiomyopathy].
[PMID 21609242] Age-related macular degeneration-susceptibility single nucleotide polymorphisms in a han chinese control population.
[PMID 23716478] Developmental dysplasia of the hip: Linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in all affected members of a large multi-generation family
[PMID 24287500] Prospective Study of Common Variants in CX3CR1 and Risk of Macular Degeneration: Pooled Analysis From 5 Long-term Studies
[PMID 24998320] Linkage Mapping and Whole Exome Sequencing Identify a Shared Variant in CX3CR1 in a Large Multi-Generation Family
[PMID 27176135] CX3CR1 polymorphisms associated with an increased risk of developmental dysplasia of the hip in human.