Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:2.6.1.44 (
AGT
)
770
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The study was undertaken to verify whether the
RET
gene polymorphisms are associated with MTC in patients negative for germline mutations. Two hundred five patients with apparent sporadic MTC were subjected to genetic analysis of
RET
exons 10, 11, 13, 14, 16 and 22
RET
germline mutation carriers were identified with 10.7% frequency. The frequency among 26 patients not older than 30 was 27%. In patients excluded for known mutations we analyzed two polymorphic sites:
RET
codon 769 and 836. As control group, 90 healthy subjects were investigated. In young patients the observed allelic frequencies were 32% for variant L769/CTG and 5% for variant S836/
AGT
. Although these values were higher than in older MTC patients (22 and 3%, respectively), as well as in the control group (27 and 2%) the difference was insignificant. We conclude that in Polish patients polymorphisms at
RET
codons 769 and 836 are not associated with medullary thyroid carcinoma.
...
PMID:RET polymorphisms in codons 769 and 836 are not associated with predisposition to medullary thyroid carcinoma. 1535 Jun 25