RGD Reference Report - Plasminogen activator inhibitor-1 gene polymorphism in Iranian Azeri Turkish patients with FMF disease and its association with amyloidosis. - Rat Genome Database

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Plasminogen activator inhibitor-1 gene polymorphism in Iranian Azeri Turkish patients with FMF disease and its association with amyloidosis.

Authors: Bonyadi, M  Shaghaghi, Z  Haghi, M  Dastgiri, S 
Citation: Bonyadi M, etal., Eur J Pediatr. 2013 Jan;172(1):91-8. doi: 10.1007/s00431-012-1844-z. Epub 2012 Oct 5.
RGD ID: 13207414
Pubmed: PMID:23052617   (View Abstract at PubMed)
DOI: DOI:10.1007/s00431-012-1844-z   (Journal Full-text)


UNLABELLED: Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by intermittent episodes of fever with serositis, arthritis, or eriseplemya. Plasminogen activator inhibitor 1 (PAI-1) is a key element in the inhibition of fibrinolysis by inactivating tissue-type and urokinase-type plasminogen activators. We evaluated the association of PAI-1 -675 4G/5G polymorphism with the severity of FMF disease. For this purpose, 89 FMF patients with M694V homozygous mutation and 95 healthy controls from Iranian Azeri Turks were selected. Detection of this polymorphism was performed by polymerase chain reaction using allele-specific primers. No significant association was found between patients and control group. However, these data showed that FMF patients with M694V homozygous mutation carrying 4G/4G genotype have a reduced risk for development of pleuritis (odds ratios (OR) 0.36; 95 % confidence intervals (CI) 0.5-0.85; P value¿=¿0.007) compared with 5G/5G homozygotes who have increased risk for development of amyloidosis (OR¿=¿2.46; 95 %CI¿=¿1.29-4.72; P value¿=¿0.001), pleuritis (OR¿=¿2.55; 95 %CI¿=¿1.31-4.99; P value¿=¿0.001), and fever (OR¿=¿4.68; 95 %CI¿=¿2.04-10.96; P value¿=¿0.000). Furthermore, the allelic frequency of the 4G among the patients with pleuritis was significantly low (OR¿=¿0.5, 95 % CI¿=¿0.27-0.92, P value¿=¿0.008).
CONCLUSION: Our data suggest a protective role for the 4G allele against pleuritis in FMF patients with M694V homozygous mutation in this cohort. More evaluation of this polymorphism may be important and require further studies.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
amyloidosis susceptibilityIAGP 13207414associated with Familial Mediterranean Fever and DNA: DNA:polymorphism:promoter:rs1799768 (human):RGD 
amyloidosis susceptibilityISOSERPINE1 (Homo sapiens)13207414; 13207414associated with Familial Mediterranean Fever and DNA: DNA:polymorphism:promoter:rs1799768 (human):RGD 
Fever susceptibilityIAGP 13207414associated with Familial Mediterranean Fever and DNA: DNA:polymorphism:promoter:rs1799768 (human):RGD 
Fever susceptibilityISOSERPINE1 (Homo sapiens)13207414; 13207414associated with Familial Mediterranean Fever and DNA: DNA:polymorphism:promoter:rs1799768 (human):RGD 
pleurisy susceptibilityIAGP 13207414associated with Familial Mediterranean Fever and DNA: DNA:polymorphism:promoter:rs1799768 (human):RGD 
pleurisy susceptibilityISOSERPINE1 (Homo sapiens)13207414; 13207414associated with Familial Mediterranean Fever and DNA: DNA:polymorphism:promoter:rs1799768 (human):RGD 

Objects Annotated

Genes (Rattus norvegicus)
Serpine1  (serpin family E member 1)

Genes (Mus musculus)
Serpine1  (serine (or cysteine) peptidase inhibitor, clade E, member 1)

Genes (Homo sapiens)
SERPINE1  (serpin family E member 1)


Additional Information