Table 1.
Selected SNPs of the candidate genes and their association with diseases
| Gene | SNP ID | Type of polymorphism | SNP influence |
|---|---|---|---|
| IL-10 | rs3024496 | 3′ UTR | Associated with reduced IL-10 production in Ascaris lumbricoides–stimulated peripheral blood mononuclear cells30; associated with Helicobacter pylori infection31 |
| IL-10 | rs1800872 | Promoter | Associated with higher susceptibility and greater risk of developing type II diabetes mellitus32; correlated with asthma susceptibility33; increased risk for colorectal cancer development34; decreased risk of breast cancer35 |
| IL-10RA | rs3135932 | Missense (Ser159Gly) | Associated with extra-pulmonary tuberculosis36 |
| IL-10RB | rs2834167 | Missense (Lys175Glu) | Associated with systemic sclerosis37; systemic lupus erythematosus38; benign prostate hyperplasia39; ischemic stroke with hypertension40 |
| PD-1 | rs2227982 | Missense (Val215Ala) | Associated with ankylosing spondylitis41,42; decreased the risk of breast cancer43 |
| PD-1 | rs10204525 | 3′ UTR | Increased risk of oesophageal squamous cell carcinoma development44 |
| PD-L1 | rs4143815 | 3′ UTR | Associated with the risk of gastric adenocarcinoma45; type 1 diabetes mellitus in Chilean population46; PD-L1 overexpression in gastric cancer47; early stage non-small cell lung cancer after surgical resection48 |
| PD-L2 | rs7854413 | Missense (Ile241Thr) | Not associated with systemic lupus erythematosus49 |
IL = interleukin; PD = programmed cell death; PD-L = programmed death-ligand; rs = reference SNP cluster ID number obtained from dbSNP; SNP = single-nucleotide polymorphism; UTR = untranslated region. The positive or negative association of the genetic variants from regulatory pathway genes with infectious diseases, inflammatory diseases, and cancer conditions are listed.