Rodríguez-Sánchez Irám P, Suárez-Caro Stephania, Rivas-Solís Fernando, Delgado-Enciso Iván, Sánchez-Chaparro María M, Gómez-Govea Mayra A, Martínez-de-Villarreal Laura E, Valdez-Velazquez Laura L
1 Genetics Department, 'Dr. José Eleuterio González' University Hospital, Universidad Autonoma de Nuevo León, Monterrey, Mexico.
2 Faculty of Chemical Sciences, Universidad de Colima, Coquimatlán, Mexico.
J Renin Angiotensin Aldosterone Syst. 2016 Oct-Dec;17(4):1470320316678159. doi: 10.1177/1470320316678159.
Preterm birth is the most important cause of neonatal mortality and morbidity. It is a multifactorial disease with different etiologies, including genetic factors. Genetic variability is represented by single nucleotide polymorphisms (SNPs) in genes of proteins involved in the contractile activity. We determine the association between SNP 12109G> A in REN associated with preterm birth and premature rupture of membrane.
A study of cases ( N=112, 22-36 weeks of gestation; mean: 31, 95% confidence interval 30.7-32.2) and controls ( N=66; 38-40 weeks of gestation from the last menstrual period; mean: 39.8, 95% confidence interval 38.9-39.4) was performed. Genomic DNA was isolated in all patients from peripheral blood. The SNP 12109G> A ( Mbo I) in REN was typified by PCR-restriction fragment length polymorphism.
A significant difference in the case group for the SNP 12109G>A was observed. The A allele was increased in women with preterm birth (81% cases vs. 15% control, p<0.0000004). There was also a significant difference between genotypes, mainly an excess of G/A heterozygotes in women with preterm birth (60% cases vs. 23% controls). The phenotype 12109G> A has odds ratio 6.62 (95% confidence interval 3.14-14.15), which means a high risk of preterm birth/premature rupture of membrane in presence of allele A, both in homozygotes and in heterozygotes.
Allelic frequency of A of SNP 12109G>A was higher in women with preterm birth than in women with normal vaginal delivery and could be considered a risk factor.
早产是新生儿死亡和发病的最重要原因。它是一种具有不同病因的多因素疾病，包括遗传因素。遗传变异性由参与收缩活动的蛋白质基因中的单核苷酸多态性（SNP）表示。我们确定了与早产和胎膜早破相关的肾素基因（REN）中SNP 12109G>A之间的关联。
对病例（N = 112，妊娠22 - 36周；平均：31周，95%置信区间30.7 - 32.2）和对照（N = 66；自末次月经起妊娠38 - 40周；平均：39.8周，95%置信区间38.9 - 39.4）进行了研究。从所有患者的外周血中分离基因组DNA。通过PCR-限制性片段长度多态性对肾素基因中的SNP 12109G>A（Mbo I）进行分型。
观察到病例组中SNP 12109G>A存在显著差异。早产女性中A等位基因增加（81%的病例 vs. 15%的对照，p<0.0000004）。基因型之间也存在显著差异，主要是早产女性中G/A杂合子过多（60%的病例 vs. 23%的对照）。12109G>A表型的优势比为6.62（95%置信区间3.14 - 14.15），这意味着在纯合子和杂合子中，存在A等位基因时早产/胎膜早破的风险很高。
早产女性中SNP 12109G>A的A等位基因频率高于正常阴道分娩女性，可被视为一个风险因素。
