PhenoModifier-Variant Detail

Variant "IL23R:c.1142G>A(p.Arg381Gln)"

Search result: 1 record

Variant information

Gene:

IL23R

Variant:

IL23R:c.1142G>A(p.Arg381Gln)

Genomic location:

chr1:67705958(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_144701.2:c.1142G>A(p.Arg381Gln)

dbSNP ID:

rs11209026

GWAS trait:

inflammatory bowel disease,interleukin 23 receptor measurement,ankylosing spondylitis,Crohn's disease,ulcerative colitis,psoriasis

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Risk factor(1)

Detail：

Target disease:

Inflammatory Bowel Disease (DOID_0050589)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

P=6.53×10(13), OR=0.330; 95% CI: (0.000–0.439)

Effect:

Reduced risk of Crohn disease, psoriasis and ankylosing , protecting against inflammatory bowel disease

Reference:

PMID21151126

Title:

Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease.

Species studied:

Human

Abstract:

Genome-wide association studies (GWAS) have identified dozens of risk loci for many complex disorders, including Crohn's disease. However, common disease-associated SNPs explain at most 20% of the genetic variance for Crohn's disease. Several factors may account for this unexplained heritability, including rare risk variants not adequately tagged thus far in GWAS. That rare susceptibility variants indeed contribute to variation in multifactorial phenotypes has been demonstrated for colorectal cancer, plasma high-density lipoprotein cholesterol levels, blood pressure, type 1 diabetes, hypertriglyceridemia and, in the case of Crohn's disease, for NOD2 (refs. 14,15). Here we describe the use of high-throughput resequencing of DNA pools to search for rare coding variants influencing susceptibility to Crohn's disease in 63 GWAS-identified positional candidate genes. We identify low frequency coding variants conferring protection against inflammatory bowel disease in IL23R, but we conclude that rare coding variants in positional candidates do not make a large contribution to inherited predisposition to Crohn's disease.