Disorder "Systemic Lupus Erythematosus"
Found 7 records
Disorder information
Disorder name:
Systemic Lupus Erythematosus
Disoder ID:
OMIM entry:
OMIM:152700
,OMIM:300809
,OMIM:605480
,OMIM:608437
,OMIM:609903
,OMIM:609939
,OMIM:610065
,OMIM:610066
,OMIM:612254
,OMIM:612378
,OMIM:613145
,OMIM:614420
Synonyms:
Lupus Erythematosus, systemic,SLE - Lupus Erythematosus, systemic,disseminated lupus erythematosus
Definition:
A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.
Modifier statisitcs
Record:
7
Gene:
5
Variant:
7
Reference:
3
Effect type:
Expressivity(7)
Modifier effect:
Risk factor(5)
,Altered susceptibility(1)
,Altered severity(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 | |
| TNF | TNF:c.-308G>A | Expressivity | Risk factor | Assessment of genotype–phenotype associations | The TNFA promoter polymorphism is a leading risk factor for SLE susceptibility in a Bulgarian population.more | more |
| SIRT1 | SIRT1:c.-1138T>C | Expressivity | Altered severity | PC= 0.012, OR=2.04, 95% CI: 1.32-3.14 | SIRT1 rs3758391 functionally influences SLE severity and rs3758391 T allele being a risk factor for nephritis and a higher SLEDAImore | more |
| IL10 | IL10:c.-1082A/G | Expressivity | Altered susceptibility | Assessment of genotype–phenotype associations | The IL10 -1082 locus appears to act as a significant modifiermore | more |
| Haplotype | Haplotype:(TNF:c.-308G>A,IL10:c.-1082A>G) | Expressivity | Risk factor | P=0.006 | The combinatorial complexity of TNFA and IL10 promoter polymorphisms impacts SLE susceptibility.more | more |
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