Objective: To investigate the correlation of single nucleotide polymorphisms (SNP) in arachidonate 5-lipoxygenase gene (ALOX5) rs2029253, rs2228064 and rs2228065 sites, 5-lipoxygenase activating protein gene (ALOX5AP) rs10507391, rs4769874 sites with the risk for genesis of adult myeloid leukemia.
Methods: By the approval from the hospital ethics committee and the informed consent of participants. 150 patients with myeloid leukemia (ML) as ML group and 134 healthy people as the control group were selected. The genomic DNA was extracted from the samples. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) combined with directly sequencing, PCR-amplified products were applied to test the polymorphism of 5 sites in ALOX5 and ALOX5AP gene.
Results: A allele frequencies of ALOX5 gene rs2029253 site in the ML group and the control group were 43.0% and 34.3%, respectively. And the G allele frequencies in the ML group and the control group were 57.0% and 65.7%, respectively. The genotype distributions of AA, AG and GG in ALOX5 gene rs2029253 site in the ML group were 32.2%, 21.5% and 46.3% respectively. That in the control group were 15.7%, 37.3% and 47.0% respectively. The genotype AA and A allele frequency of ALOX5 gene rs2029253 site were linked with the increased risk of myeloid leukemia (OR=2.26, 95% CI: 1.43-4.56, P＜0.05; OR=1.44, 95% CI: 1.02-2.03, P＜0.05). And the genotype AG and allele G reduced the susceptibility to myeloid leukemia (OR=0.46, 95% CI: 0.27-0.78, P＜0.01; OR=0.69, 95% CI: 0.50-0.98, P＜0.05), however, the polymorphisms of ALOX5 gene rs2228064 and rs2228065 site not correlated with the risk of myeloid leukemia (P＞0.05). The A allele frequency of ALOX5AP gene rs10507391 site in the ML group and the control group were 30.7% and 36.2% respectirely. The genotype distribution rates of AA, AT and TT in ALOX5AP gene rs10507391 site in the ML group was 1.3%, 58.7% and 40.0% respectively, that in the control group were 9.7%, 53.0% and 37.3% respectively. The genotype AA of ALOX5AP gene rs10507391 site correlated with the decreased risk of myeloid leukemia (OR=0.13, 95% CI: 0.03-0.57, P＜0.05), but the polymorphism of ALOX5AP gene rs4769874 site not correlated with the risk of myeloid leukemia (P＞0.05).
Conclusion: The genotype AA, AG and allele A, G of ALOX5 rs2029253, as well as ALOX5AP rs10507391 may be correlate with the susceptibility to myeloid leukemia.
题目: ALOX5、ALOX5AP基因多态性与髓系白血病易感性的关系.
目的: 探讨花生四烯5-脂氧合酶基因（arachidonate 5-lipoxygenase gene，ALOX5） rs2029253, rs2228064和rs2228065位点以及5-脂氧合酶激活蛋白基因（5-lipoxygenase activating protein gene，ALOX5AP）rs10507391和rs4769874位点的单核苷酸多态性（single nucleotide polymorphisms，SNP）与髓系白血病发病风险的相关性.
方法: 经医院伦理委员会批准、患者知情同意，选取150例髓系白血病患者为髓系白血病（ML）组，134例健康人群为对照组。提取基因组DNA，采用聚合酶链反应及限制性片段长度多态技术（PCR-RFLP）联合PCR 产物直接测序法检测ALOX5、ALOX5AP基因5个位点的基因型.
结果: ALOX5 基因rs2029253位点在ML组和对照组中的A等位基因频率分别为43.0%和34.3%，而等位基因G的频率分别为57.0%、65.7%；基因型AA、AG和GG在ML组中的分布频率分别为32.2%，21.5%和46.3%，而在对照组中的分布频率分别为15.7%, 37.3%和47.0%。基因型AA和等位基因A可能增加髓系白血病的发病风险（OR=2.26，95% CI：1.43-4.56，P＜0.05；OR=1.44，95% CI：1.02-2.03，P＜0.05）；基因型AG与等位基因G可能降低对髓系白血病的易感性（OR=0.46，95% CI：0.27-0.78，P＜0.01；OR=0.69，95% CI：0.50-0.98，P＜0.05）。而ALOX5基因rs2228064、rs2228065位点多态性在ML组与对照组间的分布差异无统计学意义（P＞0.05）。ALOX5AP基因rs10507391位点等位基因A在髓系白血病组和对照组中频率分布分别为30.7%和36.2%；基因型AA、AT和TT在ML组中分布频率分别为1.3%，58.7%和40.0%，在对照组中的分布频率分别为9.7%, 53.0%和37.3%；基因型AA可能降低髓系白血病的发病风险（OR=0.13，95% CI：0.03-0.57，P＜0.05）；而ALOX5AP rs4769874位点基因型与等位基因分布频率在ML组与对照组间的分布差异无统计学意义（P＞0.05）.
结论: ALOX5 rs2029253位点基因型AA、AG和等位基因A、G以及ALOX5AP rs4769874位点AA基因型与髓系白血病发病的遗传易感性相关.