Immunology and Molecular Biology Laboratory and Graduate Program in Health Sciences, University Hospital of Federal University of Sergipe, Aracaju, Brazil.
Sector of Parasitology and Pathology, Biological and Health Sciences Institute, Federal University of Alagoas, Maceió, Brazil.
Sci Rep. 2023 Mar 1;13(1):3466. doi: 10.1038/s41598-023-30342-3.
Congenital Zika syndrome (CZS) is a cluster of malformations induced by Zika virus (ZIKV) infection and the underline mechanisms involved in its occurrence are yet not fully understood. Along with epidemiological and environmental factors, the genetic host factors are suggested as important to the CZS occurrence and development, however, few studies have evaluated this. This study enrolled a total of 245 individuals in a case-control association study compound a cohort of high specific interest constituted by 75 mothers who had delivered CZS infants, their 76 infants, and 47 mothers that had delivered healthy infants, and their 47 infants. Sixteen single-nucleotide polymorphisms on TREM1, CXCL10, IL4, CXCL8, TLR3, TLR7, IFNR1, CXCR1, IL10, CCR2 and CCR5 genes were genotyped to investigate their association as risk factors to CZS. The results show an association between C allele at TREM1 rs2234246 and C allele at IL4 rs224325 in mothers infected with ZIKV during pregnancy, with the increased susceptibility to CZS occurrence in their infants and the SNP CXCL8 rs4073 and the G allele at CXCL10 rs4508917 with presence of CZS microcephaly in the infants. Furthermore, the T allele at CXCL8 rs4073 and TRL7 rs179008 SNPs were associated with the severity of microcephaly in children with CZS. These results suggest that these polymorphisms in genes of innate immune responses addressed here are associated to increased risk of occurrence and severity of CZS in pregnant mothers infected with ZIKV and their CZS infants.
先天性寨卡综合征(CZS)是寨卡病毒(ZIKV)感染引起的一系列畸形,其发生的潜在机制尚不完全清楚。除了流行病学和环境因素外,遗传宿主因素也被认为是 CZS 发生和发展的重要因素,但很少有研究对此进行评估。本研究共纳入了 245 名病例对照关联研究的个体,其中包括一组高特异性队列,由 75 名分娩了 CZS 婴儿的母亲、她们的 76 名婴儿、47 名分娩了健康婴儿的母亲及其 47 名婴儿组成。对 TREM1、CXCL10、IL4、CXCL8、TLR3、TLR7、IFNR1、CXCR1、IL10、CCR2 和 CCR5 基因上的 16 个单核苷酸多态性进行了基因分型,以研究它们作为 CZS 风险因素的相关性。结果表明,在怀孕期间感染 ZIKV 的母亲中,TREM1 rs2234246 的 C 等位基因和 IL4 rs224325 的 C 等位基因之间存在关联,其婴儿发生 CZS 的易感性增加,并且 SNP CXCL8 rs4073 和 CXCL10 rs4508917 的 G 等位基因与婴儿存在 CZS 小头畸形有关。此外,CXCL8 rs4073 和 TRL7 rs179008 基因的 T 等位基因与 CZS 患儿小头畸形的严重程度相关。这些结果表明,这里研究的先天免疫反应基因中的这些多态性与感染 ZIKV 的孕妇及其 CZS 婴儿发生 CZS 的风险增加和严重程度相关。