Cell Therapy and Regenerative Medicine Comprehensive Center, Kerman University of Medical Sciences, Kerman, Iran.
Department of Hematology and Medical Laboratory Sciences, Faculty of Allied Medicine, Kerman University of Medical Sciences, Kerman, Iran.
BMC Med Genomics. 2022 Aug 5;15(1):171. doi: 10.1186/s12920-022-01325-6.
Acute lymphoblastic leukemia is the most prevailing pediatric hematologic malignancy, and various factors such as environmental exposures and genetic variation affect ALL susceptibility and patients outcome. According to genome-wide association studies, several single nucleotide polymorphisms (SNPs) in IKZF1 (rs4132601) and CDKN2A (rs3731249 and rs3731217) genes are associated with ALL susceptibility. Hereupon, this study aimed to discover the association between these SNPs and the risk of childhood ALL among a sample of the Iranian population.
A total of fifty children with ALL were included in this case-control study, along with an additional fifty healthy children, matched for age and gender. High-resolution melting (HRM) analysis was employed to genotyping rs4132601, rs3731249, and rs3731217.
In the patient group, the CT genotype and T allele frequency of rs3731249 were significantly greater than controls (p = 0.01 and p = 0.005, respectively). Moreover, the positive association of CT and dominant model (CT + TT) genotypes and T allele at rs3731249 with the risk of ALL was confirmed (OR = 9.56, OR = 10.76 and OR = 11.00, respectively). There was no significant relation between rs4132601 (IKZF1), rs3731217 (CDKN2A), and childhood ALL.
The present study indicates that CT genotype and T allele at rs3731249 (CDKN2A) can significantly increase the risk of ALL among children.
急性淋巴细胞白血病是最常见的儿科血液恶性肿瘤，环境暴露和遗传变异等多种因素影响 ALL 的易感性和患者预后。根据全基因组关联研究，IKZF1（rs4132601）和 CDKN2A（rs3731249 和 rs3731217）基因中的几个单核苷酸多态性（SNP）与 ALL 的易感性相关。因此，本研究旨在探讨这些 SNP 与伊朗人群儿童 ALL 发病风险的关系。
本病例对照研究共纳入 50 例 ALL 患儿和 50 名年龄和性别相匹配的健康儿童。采用高分辨率熔解（HRM）分析对 rs4132601、rs3731249 和 rs3731217 进行基因分型。
在患者组中，rs3731249 的 CT 基因型和 T 等位基因频率明显高于对照组（p=0.01 和 p=0.005）。此外，rs3731249 的 CT 和显性模型（CT+TT）基因型和 T 等位基因与 ALL 风险的正相关得到证实（OR=9.56、OR=10.76 和 OR=11.00）。rs4132601（IKZF1）、rs3731217（CDKN2A）与儿童 ALL 之间无显著关系。
本研究表明，rs3731249（CDKN2A）的 CT 基因型和 T 等位基因可显著增加儿童 ALL 的发病风险。
