Wujcicka Wioletta, Wilczyński Jan, Paradowska Edyta, Studzińska Mirosława, Nowakowska Dorota
Scientific Laboratory of the Center of Medical Laboratory Diagnostics and Screening, Polish Mother's Memorial Hospital - Research Institute, Lodz, Poland; Department of Perinatology and Gynecology, Polish Mother's Memorial Hospital - Research Institute, Lodz, Poland.
2nd Chair of Obstetrics and Gynecology, Duchess Anna Mazowiecka Public Teaching Hospital, Warsaw, Poland.
Microb Pathog. 2017 Apr;105:106-116. doi: 10.1016/j.micpath.2017.02.017. Epub 2017 Feb 17.
The research project targeted the distribution of genotypes, alleles and haplotypes in single nucleotide polymorphisms (SNPs) within the interleukin (IL) 1A, IL1B, IL6, IL12B and TNFA genes, in fetuses and neonates, congenitally infected with human cytomegalovirus (HCMV), and among uninfected controls.
The study included 20 fetuses and neonates with congenital HCMV infection and 31 control individuals. The genotypes in SNPs of the studied cytokine genes were identified by a self-designed nested PCR-RFLP assays. Selected genotypes, representing distinct variants in analyzed polymorphisms, were confirmed by sequencing. The relationship between the genetic status of the studied polymorphisms and congenital infection development was estimated, using a logistic regression model.
The CT haplotype, composed of C allele determined in IL1A -889 C > T and T allele in IL1B +3954 C > T SNP, increased the risk of congenital HCMV infection, as well as the onset of disease related symptoms (P ≤ 0.0001). Considering disease outcome, the risk of development of symptoms, was increased among the CT heterozygotes in IL1A -889 C > T polymorphism (OR 2.86, 95% CI 0.24-33.90; P = 0.045). Moreover, multiple-SNP variants CCGAG in the range of all the SNPs, analyzed in the study, increased the risk of congenital infection with HCMV (OR 7.94, 95% CI 1.38-45.69; P = 0.026).
Polymorphisms within the proinflammatory cytokine genes may contribute to the development of congenital infection with HCMV.
该研究项目旨在针对先天性感染人类巨细胞病毒（HCMV）的胎儿和新生儿以及未感染的对照组，研究白细胞介素（IL）1A、IL1B、IL6、IL12B和TNFA基因单核苷酸多态性（SNP）中的基因型、等位基因和单倍型分布。
该研究纳入了20例先天性HCMV感染的胎儿和新生儿以及31例对照个体。通过自行设计的巢式PCR-RFLP分析确定所研究细胞因子基因SNP中的基因型。通过测序确认代表分析多态性中不同变体的选定基因型。使用逻辑回归模型评估所研究多态性的遗传状态与先天性感染发展之间的关系。
由IL1A -889 C>T中确定的C等位基因和IL1B +3954 C>T SNP中的T等位基因组成的CT单倍型增加了先天性HCMV感染的风险以及疾病相关症状的发作风险（P≤0.0001）。考虑到疾病结局，IL1A -889 C>T多态性的CT杂合子中症状发展的风险增加（OR 2.86，95% CI 0.24-33.90；P = 0.045）。此外，研究中分析的所有SNP范围内的多SNP变体CCGAG增加了先天性HCMV感染的风险（OR 7.94，95% CI 1.38-45.69；P = 0.026）。
促炎细胞因子基因内的多态性可能有助于先天性HCMV感染的发展。
