Abstract：
:Human type II inosine monophosphate dehydrogenase (IMPDH2) is a key enzyme in the purine nucleotide biosynthetic pathway and constitutes a pivotal biological target for immunosuppressant and antiviral drugs. Several Single Nucleotide Polymorphisms (SNP) affecting the IMPDH2 gene sequence have been reported with potential functional relevance and could impact drugs response. We aimed to determine the frequency of three of these polymorphisms, namely g.3375C>T (Leu(263)Phe), c.-95T>G and IVS7+10T>C, in Caucasians, Tunisians, Peruvians and Black Africans (Gabonese and Senegalese). The g.3375C>T and c.-95T>G polymorphisms are rare with a Minor Allele Frequency ≤1.0% in our populations, whereas the third variant, IVS7+10T>C, is more frequent and displays large interethnic variations, with an allelic frequency ranging from 14.6% in the French Caucasian population studied to less than 2% in Black African and Peruvian populations. This ethnic-related data might contribute to a better understanding of the variability in clinical outcome and/or dose adjustments of drugs that are IMPDH inhibitors such as mycophenolic acid.
journal_name
Mol Biol Repjournal_title
Molecular biology reportsauthors
Garat A,Cardenas CL,Lionet A,Devos A,Glowacki F,Kenani A,Migot-Nabias F,Allorge D,Lo-Guidice JM,Broly F,Cauffiez Cdoi
10.1007/s11033-010-0668-zsubject
Has Abstractpub_date
2011-11-01 00:00:00pages
5185-8issue
8eissn
0301-4851issn
1573-4978journal_volume
38pub_type
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