Ozturk C, Aksu G, Berdeli A, Kutukculer N
Department of Pediatrics, Faculty of Medicine, Ege University, 35100, Bornova-Izmir, Turkey.
Clin Exp Med. 2006 Mar;6(1):27-32. doi: 10.1007/s10238-006-0090-y.
The efficacy of IgG-induced Fc gamma receptor (FcgammaR) function displays interindividual heterogeneity due to genetic polymorphisms of three FcgammaR subclasses: FcgammaRIIa, FcgammaRIIIa and FcgammaRIIIb. FcgammaR polymorphisms may contribute to disease susceptibility or may alter disease course. The aim of this study is to examine FcgammaR gene polymorphisms in Turkish children with recurrent respiratory tract infections and without well known humoral immunodeficiencies. For the patients in the study group (n=52), recurrent infection was defined as the presence of at least six infection episodes a year. Seventy-one healthy children with a maximum of two infections in a year were enrolled as the control group. Subjects in both groups had no abnormalities in serum immunoglobulins, IgG subsets and specific antibody levels. For FcgammaRIIa: H131H, H131R, R131R genotypes and 131R, 131H alleles; for FcgammaRIIIa: F158F, F158V, V158V genotypes and 158F, 158V alleles; and for FcgammaRIIIb: -NA1/NA1, NA1/NA2, NA2/NA2 genotypes and NA1, NA2 alleles were determined by using amplification refractory mutation system polymerase chain reaction (ARMS-PCR). Compared with the control group, the FcgammaRIIa-R131R genotype and 131R allele were found to be significantly elevated in the study group, and FcgammaRIIa-H131H genotype and 131H allele in the study group were significantly lower than in the control group. Genotypes and alleles related with FcgammaRIIIa and FcgammaRIIIb gene polymorphisms did not show any significant difference between the study and control groups. FcgammaRIIa gene polymorphism (R131R) may increase the risk and susceptibility for recurrent infectious diseases in children.
由于三种Fcγ受体亚类（FcγRIIa、FcγRIIIa和FcγRIIIb）的基因多态性，IgG诱导的Fcγ受体（FcγR）功能的疗效表现出个体间的异质性。FcγR多态性可能导致疾病易感性增加或改变疾病进程。本研究的目的是检测患有反复呼吸道感染且无已知体液免疫缺陷的土耳其儿童的FcγR基因多态性。研究组患者（n = 52）中，反复感染定义为每年至少有六次感染发作。71名每年最多有两次感染的健康儿童作为对照组。两组受试者的血清免疫球蛋白、IgG亚群和特异性抗体水平均无异常。采用扩增阻滞突变系统聚合酶链反应（ARMS-PCR）检测FcγRIIa的H131H、H131R、R131R基因型和131R、131H等位基因；FcγRIIIa的F158F、F158V、V158V基因型和158F、158V等位基因；以及FcγRIIIb的-NA1/NA1、NA1/NA2、NA2/NA2基因型和NA1、NA2等位基因。与对照组相比，研究组中FcγRIIa-R131R基因型和131R等位基因显著升高，研究组中FcγRIIa-H131H基因型和131H等位基因显著低于对照组。FcγRIIIa和FcγRIIIb基因多态性相关的基因型和等位基因在研究组和对照组之间未显示出任何显著差异。FcγRIIa基因多态性（R131R）可能会增加儿童反复感染性疾病的风险和易感性。
