关键词: Minor alleles Population gene polymorphisms genetic predisposition oncological disease

来  源:   DOI:10.1080/15513815.2024.2375523

Abstract:
UNASSIGNED: To investigate the genetic contribution of 24 GWAS-associated polymorphic gene variants on the development of children\'s B-lineage acute lymphoblastic leukemia (B-ALL) in an ethnically homogeneous population of Kazakhs.
UNASSIGNED: A study of 205 children with B-ALL and 204 healthy children was conducted. Genotyping of polymorphic loci was carried out using the TaqMan method.
UNASSIGNED: Significant associations (p < 0.05) with the risk of childhood B-ALL were found for twelve variants, including rs6457327 of the HLA gene, rs4251961 of the IL1RN gene, and rs1800630 of the TNF gene. Carriage of the minor allele A of the protective rs1801157 polymorphism A of the CXCL12 gene reduces the risk of B-ALL in the Kazakh population by 40%.
UNASSIGNED: The results reveal significant associations of polymorphic genetic variants, which can serve as a basis for the development of effective methods for predicting the risk of B-ALL, early diagnosis, and timely treatment.
摘要:
研究24个GWAS相关多态性基因变异对哈萨克人种族同质人群儿童B系急性淋巴细胞白血病(B-ALL)发展的遗传贡献。
对205名B-ALL儿童和204名健康儿童进行了研究。使用TaqMan方法进行多态位点的基因分型。
发现12种变异与儿童B-ALL风险显著相关(p<0.05),包括HLA基因的rs6457327,IL1RN基因的rs4251961,和TNF基因的rs1800630。携带CXCL12基因的保护性rs1801157多态性A的次要等位基因A可将哈萨克族人群中B-ALL的风险降低40%。
结果显示多态遗传变异的显著关联,这可以作为开发预测B-ALL风险的有效方法的基础,早期诊断,及时治疗。
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