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c.521T>C allele

Italian translation: varianti alleliche sul gene SLC01B1

GLOSSARY ENTRY (DERIVED FROM QUESTION BELOW)
English term or phrase:c.521T>C allele
Italian translation:varianti alleliche sul gene SLC01B1
Entered by: Vincenzo Di Maso

21:03 Jul 7, 2014
English to Italian translations [PRO]
Medical - Medical (general)
English term or phrase: c.521T>C allele
Simvastatin is taken up actively into the hepatocytes by the transporter OATP1B1.

Special populations
Carriers of the SLCO1B1 gene c.521T>C allele have lower OATP1B1 activity. The mean exposure (AUC) of the main active metabolite, simvastatin acid is 120% in heterozygote carriers (CT) of the C allele and 221% in homozygote (CC) carriers relative to that of patients who have the most common genotype (TT). The C allele has a frequency of 18% in the European population. In patients with SLCO1B1 polymorphism there is a risk of increased exposure of simvastatin, which may lead to an increased risk of rhabdomyolysis (see section 4.4).
Vincenzo Di Maso
Portugal
Local time: 08:31
varianti alleliche sul gene SLC01B1
Explanation:
ho postato la risposta dietro richiesta di Vincenzo....Grazie
Selected response from:

daria fedele
Italy
Local time: 09:31
Grading comment
Grazie mille, Daria
4 KudoZ points were awarded for this answer



Summary of answers provided
4varianti alleliche sul gene SLC01B1
daria fedele
Summary of reference entries provided
varianti alleliche sul gene SLC01B1
daria fedele

  

Answers


14 days   confidence: Answerer confidence 4/5Answerer confidence 4/5
c.521t>c allele
varianti alleliche sul gene SLC01B1


Explanation:
ho postato la risposta dietro richiesta di Vincenzo....Grazie

daria fedele
Italy
Local time: 09:31
Works in field
Native speaker of: Italian
PRO pts in category: 32
Grading comment
Grazie mille, Daria
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Reference comments


55 mins peer agreement (net): +3
Reference: varianti alleliche sul gene SLC01B1

Reference information:
Il gene SLC01B1 codifica per il trasportatore di anioni organici OATP1B1, localizzato sulla membrana degli epatociti, che regola l’assorbimento epatico di alcuni farmaci, tra cui gli inibitori delle proteasi. Esistono in letteratura diversi studi che hanno correlato variazioni della concentrazione plasmatica di diversi farmaci con la presenza di polimorfismi a livello di questo gene. In particolare, è stato dimostrato che il polimorfismo a singolo nucleotide (SNP) in posizione 521T>C (rs4149056) sul gene SLC01B1 correli con un incremento delle concentrazioni plasmatiche di alcuni farmaci quali atrasentan, fexofenadina, simvastatina, atorvastatina, rosuvastatina, pravastatina e lopinavir. Non è tuttavia noto se tale gene possa influenzare significativamente l’esposizione a maraviroc.

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Note added at 57 min (2014-07-07 22:01:20 GMT)
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pertanto credo si tratti della posizione dell'allele


    Reference: http://edicola.sifweb.org/edicola/farmacogenetica/numero/num...
daria fedele
Italy
Works in field
Native speaker of: Italian
PRO pts in category: 32
Note to reference poster
Asker: Ciao Daria, puoi postare la risposta, così ti do i punti. Vincenzo


Peer comments on this reference comment (and responses from the reference poster)
agree  dandamesh
20 mins
  -> grazie!
agree  Marianna Aita: La sigla identifica sia la posizione (521) che la tipologia di mutazione, ossia la sostituzione della base azotata Timina con una Citosina (T>C), che porta alla codifica di una proteina in cui la valina è sostituita da un'alanina
2 hrs
  -> magnifico
agree  Pompeo Lattanzi
12 hrs
  -> ciao!
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