Chonnam Med J.  2008 Apr;44(1):23-30. 10.4068/cmj.2008.44.1.23.

Association Study of hMLH1 Polymorphisms with Riskof Acute Myeloid Leukemia in Korean

  • 1Department of Pathology, Chonnam National University Medical School, Korea.
  • 2Department of Internal Medicine, Chonnam National University Medical School, Korea.
  • 3Genome Research Center for Hematopoietic Diseases, Chonnam National University Hwasun Hospital, Hwasun, Korea.


Acute myelogenous leukemia (AML) is caused by dysregulation of oncogenes, tumor suppressor genes, and DNA mismatch repair genes. Accumulating evidence has shown that genetic differences in mismatch repair capacity resulting from genetic polymorphism influence the risk of environmental carcinogenesis. In AML and lymphoma, the promoter of hMLH1 is frequently hypermethylated. The purpose of this study is to investigate the association of hMLH1 gene polymorphisms with the susceptability to AML in Korean people. Allelic frequency of rs9311149, rs1800734, rs3774343, rs4647215, rs3774341, rs3774335, rs748766, D376D, V384D SNPs of hMLH1 was determined in 32 normal subjects by sequencing analysis. Haplotype frequency and linkage disequilibrium coefficiency of nine SNPs were estimated. The author selected and genotyped six SNPS for full-scale association study, they include one tagging SNP from neighboring six SNPs and five SNPs including two novel SNPs. One hundred and sixty eight AML cases and 255 unrelated healthy controls were used for the study. V384D was associated with increased risk of AML both in genotypes (OR=2.335; 95% CI: 1.056~5.165, p=0.032) and in allele frequency (OR=2.417; 95% CI: 1.118~5.228, p=0.021). Other SNPs except V384D were not associated with AML. The allele frequency of the SNPs between Asians, European descendants, and Africans was very significantly different (p<0.01), respectively. Among Asians, that of Koreans and Japanese was similar (p>0.05), while that between Korean and Chinese, and that between Japanese and Chinese were significantly different (p< 0.05). The data suggests that V384D polymorphism of hMLH1 might be associated with AML.


Polymorphisms Genetic; SNP protein; Leukemias
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