TABLE 4

Summary of NT5C2 SNPs showing most significant association in CEU HapMap cell lines and leukemia cells from patients with AML

Downward arrows indicate association of minor allele with reduced expression and in vitro ara-C cytotoxicity. Upward arrows indicate association with increased expression and ara-C cytotoxicity. Double arrows indicate statistically significant association, and single arrows indicate trend not reaching statistical significance.

LD GroupSNP LocationHapMap SamplesAML Patients Diagnostic BlastsMAF (HapMap)a
Promoter/5′UTRIntronicCoding SNP3′-UTRmRNA ExpressionAra-C AUCSNPs Genotyped AMLmRNA ExpressionAra-C IC50
CEU0.14810rs49179960.400
CEU0.352001rs111915580.353
CEU0.61200rs115987020.358
CEU0.112000rs49173840.259
CEU0.129000rs11630750.442
  • MAF, minimum allele frequency.

  • a Distribution of SNPs in gene within each LD group is also included.