Kreile Madara, Rots Dmitrijs, Piekuse Linda, Cebura Elizabete, Grutupa Marika, Kovalova Zhanna, Lace Baiba
Riga Stradins University, Latvia E-mail :
Asian Pac J Cancer Prev. 2014;15(22):9707-11. doi: 10.7314/apjcp.2014.15.22.9707.
Acute lymphoblastic leukemia (ALL) is a complex disease caused by interactions between hazardous exogenous or/and endogenous agents and many mild effect inherited susceptibility mutations. Some of them are known, but their functional roles still requireinvestigation. Age is a recognized risk factor; children with disease onset after the age of ten have worse prognosis, presumably also triggered by inherited factors.
The MDR1 gene polymorphisms rs1045642, rs2032582 and MTHFR gene polymorphisms rs1801131 and rs1801133 were genotyped in 68 ALL patients in remission and 102 age and gender matched controls; parental DNA samples were also available for 42 probands.
No case control association was found between analyzed polymorphisms and a risk of childhood ALL development. Linkage disequilibrium was not observed in a family-based association study either. Only marginal association was observed between genetic marker rs2032582A and later disease onset (p=0.04).
Our data suggest that late age of ALL onset could be triggered by mild effect common alleles.
急性淋巴细胞白血病（ALL）是一种复杂的疾病，由有害的外源性或/和内源性因素与许多轻度效应的遗传易感性突变之间的相互作用引起。其中一些因素是已知的，但其功能作用仍需研究。年龄是一个公认的风险因素；发病年龄在十岁以后的儿童预后较差，推测也是由遗传因素引发的。
对68例缓解期的ALL患者和102例年龄及性别匹配的对照进行了MDR1基因多态性rs1045642、rs2032582以及MTHFR基因多态性rs1801131和rs1801133的基因分型；42名先证者还提供了父母的DNA样本。
在所分析的多态性与儿童ALL发生风险之间未发现病例对照关联。在基于家系的关联研究中也未观察到连锁不平衡。仅在遗传标记rs2032582A与疾病较晚发病之间观察到边缘关联（p = 0.04）。
我们的数据表明，ALL发病较晚可能由轻度效应的常见等位基因引发。
