Gene "CARD9"
Found 3 records
Gene information
Gene symbol:
CARD9
See related:
Ensembl: ENSG00000187796, Gene ID: 64170
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
3
Disorder:
2
Vriant:
2
Reference:
1
Effect type:
Penetrance(2)
,Expressivity(1)
Modifier effect:
Altered incidence(2)
,Risk factor(1)
Details:
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Variant 1:Gene:Genomic location:Target disease:Crohn's Disease(DOID_8778)Effect type:PenetranceModifier effect:Altered incidenceEvidence:P<1×10(-16), OR=0.29Effect: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:Target 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:chr9:139266496dbSNP ID:Target disease:Crohn's Disease(DOID_8778)Effect type:PenetranceModifier effect:Altered incidenceEvidence:P<1×10(-16), OR=0.29Effect: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.