TABLE 3

Association of 5′-untranslated and exon polymorphisms of the UGT1A7 gene

Genotyping analyses by Taqman allelic discrimination PCR of the 5′-untranslated SNP, N129K/R131K, and W208R variants of the UGT1A7 gene first exon indicate a linkage dysequilibrium of the 5′-untranslated located UGT1A7 –57 G SNP and the exon 1 located Arg208 SNP. Arg208 was always present when the UGT1A7 –57 G was detected. On the other hand, UGT1A7 –57 T was always simultaneously present with Trp208. A similar linkage dysequilibrium was not found for N129K/R131K and –57 T/G, although homozygous carriers of UGT1A7 –57 G were also homozygous for the UGT1A7 Lys129/Lys131 in all but one person.

UGT1A7 -57 T/G N129K/R131K (Exon 1) W208R (Exon 1)
Asn129/Arg131 Asn129/Lys131/Lys129/Lys131 Lys129/Lys131 Trp208 Trp208/Arg208 Trp208
UGT1A7 -57 T 160 (37%) 64 (40%) 75 (47%) 21 (13%) 160 (100%) 0 0
UGT1A7 -57 T/G 203 (48%) 0 118 (58%) 85 (42%) 0 203 (100%) 0
UGT1A7 -57 G 64 (15%) 0 1 (2%) 63 (98%) 0 0 64 (100%)