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Association between genetic polymorphism of XRCC7 (G6721T) and risk of acute lymphoblastic leukemia
Egyptian Journal of Medical Human Genetics Pub Date : 2020-05-04 , DOI: 10.1186/s43042-020-00061-9
Farnoush Farokhian , Zahra Beyzaei , Mani Ramzi , Bita Geramizadeh

The DNA non-homologous end joining repair gene XRCC7 is one of the most important genes in the DNA double-strand break (DSBs) repair. It is supposed that DNA repair gene malfunction is the main risk factor in various malignancies. The XRCC7 G6721T (rs7003908) polymorphism impact was investigated on the splicing regulation that cause mRNA instability. The goal of the present hospital-based study was to investigate the association between the common genetic polymorphism of XRCC7 G6721T (rs7003908) and risk of acute lymphoblastic leukemia (ALL). This hospital-based case–control study was performed on 99 ALL patients versus 200 healthy children, as the control group, which were frequent matched by age with cases. The polymorphism of XRCC7 was determined using an RFLP-PCR technique. The GT (OR = 1.485, 95% CI 0.765–2.334, P = 0.243) and TT (OR = 1.655, 95% CI 00.875–3.128, P = 0.121) genotypes had no significant effect on the risk of ALL, in comparison with the GG genotype. However, TT genotype (OR = 1.996, 95% CI 1.033–3.858, P = 0.04) after adjusting for the parents’ smoking pattern showed a significant impact. These findings suggest that the TT genotype may increase the ALL susceptibility in children when facing with a tobacco smoke.

中文翻译:

XRCC7(G6721T)基因多态性与急性淋巴细胞白血病风险的相关性

DNA非同源末端连接修复基因XRCC7是DNA双链断裂(DSBs)修复中最重要的基因之一。推测DNA修复基因功能障碍是各种恶性肿瘤的主要危险因素。研究了 XRCC7 G6721T (rs7003908) 多态性对导致 mRNA 不稳定的剪接调控的影响。本医院研究的目的是调查 XRCC7 G6721T (rs7003908) 的常见遗传多态性与急性淋巴细胞白血病 (ALL) 风险之间的关联。这项基于医院的病例对照研究对 99 名 ALL 患者和 200 名健康儿童作为对照组进行,这些儿童经常按年龄与病例相匹配。XRCC7 的多态性使用 RFLP-PCR 技术确定。GT (OR = 1.485, 95% CI 0.765–2.334, P = 0.243) 和 TT (OR = 1.655, 95% CI 00.875–3.128, P = 0.121) 与 GG 基因型相比,基因型对 ALL 的风险没有显着影响。然而,调整父母吸烟模式后的 TT 基因型(OR = 1.996,95% CI 1.033–3.858,P = 0.04)显示出显着影响。这些发现表明 TT 基因型可能会增加儿童面对烟草烟雾时的 ALL 易感性。
更新日期:2020-05-04
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