Disorder "Insulin Resistance"
Found 1 record
Disorder information
Disorder name:
Insulin Resistance
Disoder ID:
Synonyms:
Body fails to respond to insulin
Definition:
Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered hepatic triglyceride content(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| PNPLA3 | PNPLA3:c.444C>G(p.Ile148Met) | Expressivity | Altered hepatic triglyceride content | Gene activity study | Previously, we showed that a missense mutation (I148M) in PNPLA3 (patatin-like phospholipase domain-containing 3 protein) is associated with increased hepatic triglyceride content in humans. The results of this study show that the amino acid substitution in PNPLA3 that confers susceptibility to nonalcoholic fatty liver disease (I148M) inhibits catalytic activity of the enzyme.more | more |
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