Rahman Hala Aly Abdel, Khorshied Mervat Mamdooh, Khorshid Ola M Reda, Mahgoub Shirihan Mahmoud
Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Ann Hematol. 2014 Nov;93(11):1859-65. doi: 10.1007/s00277-014-2131-z. Epub 2014 Jun 10.
Non-Hodgkin lymphomas (NHL) entail considerable heterogeneity regarding their morphology, clinical course, etiological factors, or response to therapy. Increased incidence of NHL in immunocompromised individuals and after autoimmune diseases suggests that infections and immune dysregulation could play a role in the susceptibility to NHL. Accordingly, genetic variation in Toll-like receptor (TLR) genes might be considered as molecular risk factors for NHL. The aim of the current study was to investigate the possible association between genetic polymorphism of the TLRs genes and B cell NHL (B-NHL) risk in Egypt. The present study included 100 B-NHL patients and 100 healthy controls. Genotyping of TLR2-1350 T/C and TLR9-1237 T/C were done by polymerase chain reaction restricted fragment length polymorphism (PCR-RFLP) technique. The frequency of TLR2-1350 T/C polymorphic genotypes in B-NHL patients was 18 % for the heteromutant genotype (TC) and 1 % for the homomutant (CC). There was no statistical difference in the distribution of TLR2-1350 T/C genotypes between B-NHL patients and controls. As for TLR9-1237 T/C, the frequency of the heteromutant genotype (TC) was 58 % and the homomutant genotype (CC) was 1 % in B-NHL patients. Calculated risk estimation revealed that TLR9-1237 (TC) heterotype conferred almost fourfold increased risk of B-NHL (odds ratio (OR) = 3.93, 95 % confidence interval (CI) = 2.16-7.14), and the risk was higher in patients with indolent subtypes (OR = 6.64, 95 %CI = 2.31-9.08). In conclusion, the study revealed that TLR9-1237 T/C polymorphism can be considered as molecular risk factor for B-NHL among Egyptians.
非霍奇金淋巴瘤（NHL）在形态学、临床病程、病因学因素或对治疗的反应方面存在相当大的异质性。免疫功能低下个体以及自身免疫性疾病后NHL发病率的增加表明，感染和免疫失调可能在NHL易感性中起作用。因此，Toll样受体（TLR）基因的遗传变异可能被视为NHL的分子危险因素。本研究的目的是调查埃及TLR基因多态性与B细胞NHL（B-NHL）风险之间的可能关联。本研究纳入了100例B-NHL患者和100名健康对照。采用聚合酶链反应限制性片段长度多态性（PCR-RFLP）技术对TLR2-1350 T/C和TLR9-1237 T/C进行基因分型。B-NHL患者中TLR2-1350 T/C多态性基因型的频率，杂合突变基因型（TC）为18%，纯合突变基因型（CC）为1%。B-NHL患者和对照之间TLR2-1350 T/C基因型的分布没有统计学差异。至于TLR9-1237 T/C，B-NHL患者中杂合突变基因型（TC）的频率为58%，纯合突变基因型（CC）为1%。计算得出的风险估计显示，TLR9-1237（TC）异型使B-NHL风险增加近四倍（优势比（OR）=3.93，95%置信区间（CI）=2.16-7.14），惰性亚型患者的风险更高（OR=6.64，95%CI=2.31-9.08）。总之，该研究表明TLR9-1237 T/C多态性可被视为埃及人B-NHL的分子危险因素。
