Couceiro Joana, Matos Irina, Mendes José João, Baptista Pedro V, Fernandes Alexandra R, Quintas Alexandre
Centro de Investigação Interdisciplinar Egas Moniz, Campus Universitário Quinta da Granja, Caparica, Portugal.
UCIBIO, Departamento de Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Campus de Caparica, Caparica, Portugal.
Clin Genet. 2021 Oct;100(4):357-367. doi: 10.1111/cge.14001. Epub 2021 May 28.
Preterm birth is a major clinical and public health challenge, with a prevalence of 11% worldwide. It is the leading cause of death in children younger than 5 years old and represents 70% of neonatal deaths and 75% of neonatal morbidity. Despite the clinical and public health significance, this condition's etiology is still unclear, and most of the cases are spontaneous. There are several known preterm birth risk factors, including inflammatory diseases and the genetic background, although the underlying molecular mechanisms are far from understood. The present review highlights the research advances on the association between inflammatory-related genes and the increased risk for preterm delivery. The most associated genetic variants are the TNFα rs1800629, the IL1α rs17561, and the IL1RN rs2234663. Moreover, many of the genes discussed in this review are also implicated in pathologies involving inflammatory or autoimmune systems, such as periodontal disease, bowel inflammatory disease, and autoimmune rheumatic diseases. This review presents evidence suggesting a common genetic background to preterm birth, autoimmune and inflammatory diseases susceptibility.
早产是一项重大的临床和公共卫生挑战,全球患病率为11%。它是5岁以下儿童死亡的主要原因,占新生儿死亡的70%和新生儿发病率的75%。尽管具有临床和公共卫生意义,但这种情况的病因仍不清楚,且大多数病例是自发的。已知有几种早产风险因素,包括炎症性疾病和遗传背景,尽管其潜在的分子机制仍远未明确。本综述重点介绍了炎症相关基因与早产风险增加之间关联的研究进展。最相关的基因变异是TNFα rs1800629、IL1α rs17561和IL1RN rs2234663。此外,本综述中讨论的许多基因也与涉及炎症或自身免疫系统的疾病有关,如牙周病、肠道炎症性疾病和自身免疫性风湿性疾病。本综述提供的证据表明,早产、自身免疫性疾病和炎症性疾病易感性存在共同的遗传背景。