Gene "IL23R"
Found 10 records
Gene information
Gene symbol:
IL23R
See related:
Ensembl: ENSG00000162594, Gene ID: 149233
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
10
Disorder:
2
Vriant:
6
Reference:
2
Effect type:
Expressivity(8)
,Penetrance(2)
Modifier effect:
Risk factor(8)
,Altered incidence(2)
Details:
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Variant 1:Gene:Genomic location:chr1:67648596dbSNP ID:Alias:IL23R:p.Gly149Arg, IL23R:G149RTarget disease:Crohn's Disease(DOID_8778)Effect type:PenetranceModifier effect:Altered incidenceEvidence:Assessment of genotype–phenotype assoCIations and gene activity studyEffect:Conferring protection against Crohn’s disease with predicted transcriptReference:Title:Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.Species studied:HumanAbstract:More than 1,000 susceptibility loci have been identified through genome-wide association studies (GWAS) of common variants; however, the specific genes and full allelic spectrum of causal variants underlying these findings have not yet been defined. Here we used pooled next-generation sequencing to study 56 genes from regions associated with Crohn's disease in 350 cases and 350 controls. Through follow-up genotyping of 70 rare and low-frequency protein-altering variants in nine independent case-control series (16,054 Crohn's disease cases, 12,153 ulcerative colitis cases and 17,575 healthy controls), we identified four additional independent risk factors in NOD2, two additional protective variants in IL23R, a highly significant association with a protective splice variant in CARD9 (P < 1 × 10(-16), odds ratio ≈ 0.29) and additional associations with coding variants in IL18RAP, CUL2, C1orf106, PTPN22 and MUC19. We extend the results of successful GWAS by identifying new, rare and probably functional variants that could aid functional experiments and predictive models.
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Variant 2:Gene:Genomic location:chr1:67648596dbSNP ID:Alias:IL23R:p.Gly149Arg, IL23R:G149RTarget disease:Inflammatory Bowel Disease(DOID_0050589)Effect type:ExpressivityModifier effect:Risk factorEvidence:Assessment of genotype–phenotype associations and gene activity studyEffect:Reduced risk of IBDReference:Title:Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.Species studied:HumanAbstract:More than 1,000 susceptibility loci have been identified through genome-wide association studies (GWAS) of common variants; however, the specific genes and full allelic spectrum of causal variants underlying these findings have not yet been defined. Here we used pooled next-generation sequencing to study 56 genes from regions associated with Crohn's disease in 350 cases and 350 controls. Through follow-up genotyping of 70 rare and low-frequency protein-altering variants in nine independent case-control series (16,054 Crohn's disease cases, 12,153 ulcerative colitis cases and 17,575 healthy controls), we identified four additional independent risk factors in NOD2, two additional protective variants in IL23R, a highly significant association with a protective splice variant in CARD9 (P < 1 × 10(-16), odds ratio ≈ 0.29) and additional associations with coding variants in IL18RAP, CUL2, C1orf106, PTPN22 and MUC19. We extend the results of successful GWAS by identifying new, rare and probably functional variants that could aid functional experiments and predictive models.
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Variant 3:Gene:Genomic location:chr1:67648596dbSNP ID:Alias:IL23R:p.Gly149Arg, IL23R:G149RTarget disease:Inflammatory Bowel Disease(DOID_0050589)Effect type:ExpressivityModifier effect:Risk factorEvidence:P=0.031, OR=0.230; 95% CI: (0.000–0.879)Effect:Reduced risk of Crohn disease, psoriasis and ankylosing , protecting against inflammatory bowel diseaseReference:Title:Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease.Species studied:HumanAbstract: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.
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Variant 4:Gene:Genomic location:chr1:67635211dbSNP ID:Target disease:Inflammatory Bowel Disease(DOID_0050589)Effect type:ExpressivityModifier effect:Risk factorEvidence:P=0.069, OR=0.180; 95% CI: (0.000–1.125)Effect:Reduced risk of Crohn disease, psoriasis and ankylosing , protecting against inflammatory bowel diseaseReference:Title:Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease.Species studied:HumanAbstract: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.
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Variant 5:Gene:Genomic location:chr1:67705958dbSNP ID:Target disease:Inflammatory Bowel Disease(DOID_0050589)Effect type:ExpressivityModifier effect:Risk factorEvidence: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 diseaseReference:Title:Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease.Species studied:HumanAbstract: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.
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Variant 6:Gene:Genomic location:chr1:67705900dbSNP ID:Alias:IL23R:V362I, IL23R:p.Val362IleTarget disease:Crohn's Disease(DOID_8778)Effect type:PenetranceModifier effect:Altered incidenceEvidence:Assessment of genotype–phenotype assoCIations and gene activity studyEffect:Conferring protection against Crohn’s disease with predicted transcriptReference:Title:Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.Species studied:HumanAbstract:More than 1,000 susceptibility loci have been identified through genome-wide association studies (GWAS) of common variants; however, the specific genes and full allelic spectrum of causal variants underlying these findings have not yet been defined. Here we used pooled next-generation sequencing to study 56 genes from regions associated with Crohn's disease in 350 cases and 350 controls. Through follow-up genotyping of 70 rare and low-frequency protein-altering variants in nine independent case-control series (16,054 Crohn's disease cases, 12,153 ulcerative colitis cases and 17,575 healthy controls), we identified four additional independent risk factors in NOD2, two additional protective variants in IL23R, a highly significant association with a protective splice variant in CARD9 (P < 1 × 10(-16), odds ratio ≈ 0.29) and additional associations with coding variants in IL18RAP, CUL2, C1orf106, PTPN22 and MUC19. We extend the results of successful GWAS by identifying new, rare and probably functional variants that could aid functional experiments and predictive models.
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Variant 7:Gene:Genomic location:chr1:67705900dbSNP ID:Alias:IL23R:V362I, IL23R:p.Val362IleTarget disease:Inflammatory Bowel Disease(DOID_0050589)Effect type:ExpressivityModifier effect:Risk factorEvidence:Assessment of genotype–phenotype associations and gene activity studyEffect:Reduced risk of IBDReference:Title:Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.Species studied:HumanAbstract:More than 1,000 susceptibility loci have been identified through genome-wide association studies (GWAS) of common variants; however, the specific genes and full allelic spectrum of causal variants underlying these findings have not yet been defined. Here we used pooled next-generation sequencing to study 56 genes from regions associated with Crohn's disease in 350 cases and 350 controls. Through follow-up genotyping of 70 rare and low-frequency protein-altering variants in nine independent case-control series (16,054 Crohn's disease cases, 12,153 ulcerative colitis cases and 17,575 healthy controls), we identified four additional independent risk factors in NOD2, two additional protective variants in IL23R, a highly significant association with a protective splice variant in CARD9 (P < 1 × 10(-16), odds ratio ≈ 0.29) and additional associations with coding variants in IL18RAP, CUL2, C1orf106, PTPN22 and MUC19. We extend the results of successful GWAS by identifying new, rare and probably functional variants that could aid functional experiments and predictive models.
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Variant 8:Gene:Genomic location:chr1:67705900dbSNP ID:Alias:IL23R:V362I, IL23R:p.Val362IleTarget disease:Inflammatory Bowel Disease(DOID_0050589)Effect type:ExpressivityModifier effect:Risk factorEvidence:P=0.010, OR=0.548; 95% CI: (0.000–0.851)Effect:Reduced risk of Crohn disease, psoriasis and ankylosing , protecting against inflammatory bowel diseaseReference:Title:Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease.Species studied:HumanAbstract: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.
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Variant 9:Gene:Genomic location:Target disease:Inflammatory Bowel Disease(DOID_0050589)Effect type:ExpressivityModifier effect:Risk factorEvidence:P=4.22×10(4), OR=0.448; 95% CI: (0.000–0.683)Effect:Reduced risk of Crohn disease, psoriasis and ankylosing , protecting against inflammatory bowel diseaseReference:Title:Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease.Species studied:HumanAbstract: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.
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Variant 10:Gene:Genomic location:Target disease:Inflammatory Bowel Disease(DOID_0050589)Effect type:ExpressivityModifier effect:Risk factorEvidence:P=2.22×10(-13), OR=0.360; 95% CI: (0.000–0.463)Effect:Reduced risk of Crohn disease, psoriasis and ankylosing , protecting against inflammatory bowel diseaseReference:Title:Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease.Species studied:HumanAbstract: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.