RGD Reference Report - Angiotensin-converting enzyme I/D polymorphism in Behcet's disease. - Rat Genome Database

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Angiotensin-converting enzyme I/D polymorphism in Behcet's disease.

Authors: Turgut, S  Turgut, G  Atalay, EO  Atalay, A 
Citation: Turgut S, etal., Med Princ Pract. 2005 Jul-Aug;14(4):213-6.
RGD ID: 7829810
Pubmed: PMID:15961928   (View Abstract at PubMed)
DOI: DOI:10.1159/000085737   (Journal Full-text)

OBJECTIVE: To investigate a potential relationship between I/D polymorphism within intron 16 of the angiotensin-converting enzyme (ACE) gene located on human chromosome 17 and Behcet's disease. MATERIALS AND METHODS: Genomic DNA was obtained from 35 Turkish patients diagnosed with Behcet's disease according to the International Study Group criteria and 150 healthy individuals. Polymerase chain reaction was used to detect the presence of I and D (insertion and deletion) alleles in intron 16 of the ACE gene in these DNA samples. RESULTS: We found differences in ACE I/D polymorphism between Behcet's disease and healthy controls (chi2=4.61, d.f.=1, p=0.044). In Behcet's disease patients, the D allele frequency was 84.3% and I allele frequency 15.7%. CONCLUSION: An association between Behcet's disease and ACE polymorphism may provide a useful basis for future molecular studies and therapeutic approaches in this complex disease.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Behcet's disease susceptibilityIAGP 7829810DNA:deletion:intron:IVS16+1464-1751del (human)RGD 
Behcet's disease susceptibilityISOACE (Homo sapiens)7829810; 7829810DNA:deletion:intron:IVS16+1464-1751del (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Genital ulcers susceptibilityIAGP 7829810DNA:deletion:intron:IVS16+1464-1751delRGD 
Oral ulcer susceptibilityIAGP 7829810DNA:deletion:intron:IVS16+1464-1751delRGD 
Uveitis susceptibilityIAGP 7829810DNA:deletion:intron:IVS16+1464-1751delRGD 
Objects Annotated

Genes (Rattus norvegicus)
Ace  (angiotensin I converting enzyme)

Genes (Mus musculus)
Ace  (angiotensin I converting enzyme)

Genes (Homo sapiens)
ACE  (angiotensin I converting enzyme)

Additional Information