Review Article

The Interleukin-1 (IL-1) Superfamily Cytokines and Their Single Nucleotide Polymorphisms (SNPs)

Table 1

The most important SNPs detected in the IL-1 family members.

ILsSNPsChromosome LocationAlleleSNP ClassType of DiseaseReferences

IL-1αrs175612:112779646 (GRCh38), 2:113537223 (GRCh37)C>AmissenseIncrease in BMI among the healthy obese women[275, 276, 286], (https://www.ncbi.nlm.nih.gov/snp/?term=IL-%CE%B1+rs17561)
rs18005872:112785383 (GRCh38)
2:113542960 (GRCh37)
G>A / G>C / G>TSingle Nucleotide Variation (SNV)Alzheimer’s disease, chronic periodontitis, increase in BMI among the healthy obese women, and higher expression of IL-1α in transfected pancreatic cell[276280, 282], (https://www.ncbi.nlm.nih.gov/snp/?term=rs1800587)
IL-1ßrs11436342:112832813 (GRCh38),2:113590390 (GRCh37)G>ASNVThe increase of serum IL-1β level, possible association with higher risk of lung cancer especially among smokers, increased risk of CP, a genetic risk factor for periodontitis, some linkages between this SNP and the development of ASD among Turkish (Turkey) children are recognized, and increase in serum levels of IL1β in SLE patients[291295, 298, 299](https://www.ncbi.nlm.nih.gov/snp/?term=rs1143634)
rs11436272:112836810 (GRCh38)2:113594387 (GRCh37)G>ASNVcarriers of IL-1B rs1143627 genotypes AA had a higher risk of CALs in KD[302](https://www.ncbi.nlm.nih.gov/snp/?term=rs1143627)
rs169442:112837290 (GRCh38)
2:113594867 (GRCh37)
A>GSNVThis SNP is involved in IL-1β overproduction in inflammation-related conditions, such as bladder, colon, breast, and lung cancer, increasing the risk of keratoconus in Korean patients, associated with cutaneous leishmaniasis caused by Leishmania guyanensis[303, 304, 307](https://www.ncbi.nlm.nih.gov/snp/?term=rs16944)
IL-1RNrs4195982:113129630 (GRCh38)2:113887207 (GRCh37)T>CSNVmight be associated with a reduced susceptibility to GAgP and GCP in populations of European descent, increasing more severe rOA,[312, 317](https://www.ncbi.nlm.nih.gov/snp/?term=rs419598)
rs3159522:113132727 (GRCh38)2:113890304 (GRCh37)T>A,CSNVincreasing more severe rOA,[317](https://www.ncbi.nlm.nih.gov/snp/?term=rs315952)
rs90052:113133835 (GRCh38)2:113891412 (GRCh37)G>ASNVincreasing more severe rOA,[317](https://www.ncbi.nlm.nih.gov/snp/?term=rs9005)
IL-18More investigations are needed
IL-33More investigations are needed