Genetic association and epistatic interaction of the interleukin-10 signaling pathway in pediatric inflammatory bowel disease

Table 2 Study single nucleotide polymorphisms for IL-10, IL10RA, IL10RB, STAT3 and HO1 genes

Gene	SNP ID	Chromosomal position	Variation	Gene location	Disease implication	Ref.
IL-10	rs1800872	206946407	C-592>A	5'-upstream	associated with IBD	[37]
	rs3024498	206941529	c.T>C	3'-untralated region	associated with colorectal cancer	[41]
	rs3024496	206941864	A>G	3'-untralated region	associated with IBD and colorectal cancer, with decreased IL-10, with increased IgE levels	[37-39,41]
IL10RA	rs3135932	117864063	c.A247>G, p.Ser159Gly	coding region	mutations (other than the studied SNP) associated with pediatric IBD	[7,10,12]
IL10RB	rs2834167	34640788	c.A>G, p.Lys(A)47Glu(G)	coding region	mutations (other than the studied SNP) associated with pediatric IBD	[7-11]
STAT3	rs744166	404514201	A>G	Intron 1 (closer to exon2)	associated with IBD	[20]
HO1	rs2071746	3577672	A413>T	5'-upstream	no association with IBD, associated with asthma and allergy, anti-inflammation, anti-oxidant	[30,31]

IBD: Inflammatory bowel disease; SNPs: Single nucleotide polymorphisms.