Disorder "Type 1 Diabetes Mellitus"
Found 23 records
Disorder information
Disorder name:
Type 1 Diabetes Mellitus
Disoder ID:
OMIM entry:
Synonyms:
type I diabetes mellitus, insulin-dependent diabetes mellitus, IDDM
Definition:
A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.
Modifier statisitcs
Record:
23
Gene:
6
Variant:
11
Reference:
13
Effect type:
Expressivity(23)
Modifier effect:
Risk factor(20)
,Altered susceptibility(2)
,Altered immune response(1)
Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
---|---|---|---|---|---|---|
TYK2 | TYK2:c.2783C>T(p.Ala928Val) | Expressivity | Risk factor | OR=0.53, P=1.2×10(-9) | Reduced risk of rheumatoid arthritis, systemic lupus erythematosusmore | more |
TYK2:c.2051T>G(p.Ile684Ser) | Expressivity | Risk factor | OR=0.86, P=4.6×10(-7) | Reduced risk of rheumatoid arthritis, systemic lupus erythematosusmore | more | |
TYK2:c.3310C>G(p.Pro1104Ala) | Expressivity | Risk factor | OR=0.66, P=2.3×10(-21) | Reduced risk of rheumatoid arthritis, systemic lupus erythematosusmore | more | |
SUMO4 | SUMO4:c.163G>A(p.Val55Met) | Expressivity | Altered immune response | A:G = 146:135 versus 136:124; χ2 = 0.007; P=0.935 | The 163A→G SNP (rs237025; resulting in the amino acid substitution M55V) influences immune responses by modulating NFκB activity.more | more |
SUMO4:c.163G>A(p.Val55Met) | Expressivity | Risk factor | A:G = 146:135 versus 136:124; χ2 = 0.007; P=0.935 | The 163G allele was associated with increased risk for T1D in a collection of European American families.more | more | |
SUMO4:c.163G>A(p.Val55Met) | Expressivity | Risk factor | Assessment of genotype–phenotype associations | SUMO4 M55V is associated with TIDM in association with high-risk HLA-DR3 and DR4, but not by itself.more | more | |
SUMO4:c.163G>A(p.Val55Met) | Expressivity | Risk factor | In asian population (A versus G: OR=0.79, 95% CI:0.72-0.86, P=0.000) and in caucasian population (A versus G: OR=0.84, 95% CI:0.73-0.97, P=0.007) | We detected a significant association of SUMO4 M55V polymorphism with T1DM in Asian population (A versus G: OR=0.79, 95%CI=0.72-0.86, p=0.000) and a significant association of SUMO4 M55V polymorphism with T1DM in Caucasian population (A versus G: OR=0.84, 95%CI=0.73-0.97, p=0.007).more | more | |
SUMO4:c.163G>A(p.Val55Met) | Expressivity | Altered susceptibility | OR=1.236, 95% CI: 1.112-1.373, P=7.9×10(-6) | The SUMO4 M55V polymorphism confers susceptibility to T1D in Asians and Europeans.more | more | |
SUMO4:c.163G>A(p.Val55Met) | Expressivity | Risk factor | OR=1.30, 95% CI: (0.54–3.12), P=0.55 | The M55V polymorphism has been shown to be associated with susceptibility to T1DM in Asiansmore | more | |
SUMO4:c.163G>A(p.Val55Met) | Expressivity | Altered susceptibility | P<0.05, OR=1.51, 95% CI: 1.03-2.13 | The SUMO4 gene M55V variant is associated with the genetic susceptibility of T1D in Chinese children.more | more |