Novel motif of variable number of tandem repeats in TPMT promoter region and evolutionary association of variable number of tandem repeats with TPMT*3 alleles | Zendy

Dunja Urbančič | Zendy; Alenka Šmid | Zendy; Gabriele Stocco | Zendy; Giuliana Decorti | Zendy; Irena MlinaričRaščan | Zendy; Nataša Karas Kuželički | Zendy

Open Access

Novel motif of variable number of tandem repeats in TPMT promoter region and evolutionary association of variable number of tandem repeats with TPMT*3 alleles

Author(s) -

Dunja Urbančič,

Alenka Šmid,

Gabriele Stocco,

Giuliana Decorti,

Irena MlinaričRaščan,

Nataša Karas Kuželički

Publication year - 2018

Publication title -

pharmacogenomics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.541

H-Index - 91

eISSN - 1744-8042

pISSN - 1462-2416

DOI - 10.2217/pgs-2018-0123

Subject(s) - variable number tandem repeat , genetics , tandem repeat , allele , biology , linkage disequilibrium , single nucleotide polymorphism , gene , haplotype , genotype , genome

Aim: SNPs in the gene for TPMT exemplify one of the most successful translations of pharmacogenomics into clinical practice. This study explains the correlation between common SNPs and variable number of tandem repeats (VNTR) in promoter of the gene. Materials & methods: We determined VNTR polymorphisms, as well as TPMT*2 and TPMT*3 SNPs and TPMT activity in Slovenian and Italian individuals and lymphoblastoid cell lines. Results: We observed a previously unreported VNTR allele, AB7C, in a TPMT*3A heterozygous individual. VNTRs with two (AB2C) and three or more (ABnC, n ≥ 3) B motifs were statistically significant in complete linkage disequilibrium (D′ = 1, r 2 = 1, p < 0.0001) with the TPMT*3C and TPMT*3A alleles, respectively. Conclusion: The study provides insights into the stepwise evolution of TPMT*3 alleles from *3C to *3A, with increasing number of B motifs in the VNTR region.

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