本研究调查了位于染色体位置4q31.21的白介素(IL)-15基因(外显子8)的单核苷酸多态性与伊拉克患者急性淋巴细胞白血病(ALL)风险之间的关系。共有78名(49名男性-29名女性)原发性ALL(62B细胞,16例T细胞谱系病例和30例健康对照受试者(中位年龄11岁,年龄范围为4-21.5),他们于2021年2月至2022年1月在埃尔比勒省Nanakaly医院登记。使用聚合酶链反应(PCR)和SangerDNA测序进行基因型分析。IL15纯合rs10833(100%)和rs2291596(63.6%)基因型表示高频率,并与发展ALL的风险相关。而其余16个新突变以低频率(9.1%)表示,除了97270G>GT基因型(18.2%)。高表达水平被注意到在ALL的两种亚型之间的分化(CD)生物标志物的不同簇。包括,CD10,CD19,CD22,CD79a,CD99,末端脱氧核苷酸转移酶(TdT),和B细胞谱系中的人类白细胞抗原DR(HLA-DR)同种型,while,CD2、CD3、CD5、CD7、CD13、CD117和TdT对T细胞谱系更具特异性。另一方面,在某些血液学参数,包括红细胞(RBC),血红蛋白(g/dl),Hematocrite(HCT%),红细胞分布宽度(RDW%),和血小板计数(PLT-109/L)与健康受试者相比。最后,结论是,在ALL疾病的不同亚型中记录了各种新的突变,患者中观察到轻度贫血。未来的研究将把这些突变与疾病的预后和治疗反应联系起来。
The present study investigated the relationship between single nucleotide polymorphisms in the interleukin (IL)-15 gene located (exon 8) on the chromosomal location 4q31.21 and acute lymphoblastic leukaemia (ALL) risk in Iraqi patients. A total of 78 (49 male -29 female) primary ALL (62B-cell, 16 T-cells lineages cases and 30 healthy control subjects (median age 11, age range were 4-21.5), were enrolled at the Nanakaly Hospital of Erbil Province between February 2021 and January 2022. The genotype analysis was performed using polymerase chain reaction (PCR) and Sanger DNA sequencing. The IL15 homozygous rs10833 (100%) and rs2291596 (63.6%) genotypes indicated high frequencies and were associated with a risk of developing ALL, while the remaining 16 novel mutations indicated in low frequency (9.1%) except for the 97270G>GT genotype (18.2%). High expression levels were noted for different clusters of differentiation (CD) biomarkers between both subtypes of ALL, including, CD10, CD19, CD22, CD79a, CD99, terminal deoxynucleotidyl transferase (TdT), and human leukocyte antigen DR (HLA-DR) isotype in B-cells lineages, while, CD2, CD3, CD5, CD7, CD13, CD117 and TdT are more specific to T-cells lineages. On the other hand, significant changes were noted in certain hematological parameters including red blood cells (RBCs), haemoglobin (g/dl), haematocrite (HCt %), red blood cell distribution width (RDW %), and platelet counts (PLT- 109/L) compared with those of healthy subjects. Finally, it was concluded that various novel mutations were recorded with different subtypes of ALL diseases, and mild anemia was observed among patients. Future studies will be towered to associate these mutations with prognosis and therapeutic response of diseases.