Study progress on association analysis of single nucleotide polymorphism in genetic susceptibility of preterm birth / 中华实用儿科临床杂志

ABSTRACT

Etiology and mechanism of preterm birth are very complicated.Genetic susceptibility is a key factor which shouldn't be ignored.The genetics studies carried on preterm birth are mostly based on association analysis of single nucleotide polymorphism markers to study the susceptibility of preterm birth.Inflammation genes(INF-γ gene,IL-1A gene,IL-1B gene,IL-6 gene,IL-10 gene,IL-12 gene,TNF-α gene),folic acid utilization capacity related genes (MTHFR gene,DHFR gene,MTR gene,MTRR gene,SHMT1 gene),vitamin C transportation and toxicant metabolism related genes(CYP1A1 gene,CYP2A6 gene,CYP2D6 gene,CYP2E1 gene,SLC23A1 gene,SLC23A2 gene) and coagulation related genes (coagulation factor,prothrombin,vascular endothelial growth factor,angiotensin-converting enzyme,angiotensinogen,paraoxonase) are associated with risk of preterm birth.A part of the cases with preterm delivery were the result of synergistic effect of both genetic susceptibility and environmental factors.SNP polymorphism decides the capacity of metabolism of poisonous substances and inflammation susceptibility,which in turn has influence on the reprodutive risk and delivery outcome after exposed by environmental toxicants and pathogenic organisms.The polymorphism is different among different regions and different races,so different population may have different risk markers for preterm birth.Genotyping of susceptibility genes may be helpful for reducing the preterm birth,so it's an urgent necessity to lead a population-based genetics study on preterm birth.