Disciplina de Obstetricia, Departamento de Obstetricia e Ginecologia, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.
Laboratorio de Virologia, Instituto de Medicina Tropical, Universidade de Sao Paulo, Sao Paulo, Brazil.
J Perinat Med. 2021 Feb 8;49(5):553-558. doi: 10.1515/jpm-2020-0320. Print 2021 Jun 25.
To investigate the association between selected single nucleotide polymorphisms (SNPs) with cervical insufficiency and its relationship with obstetric history.
Twenty-eight women with cervical insufficiency (case group) and 29 non-pregnant women (control group) were included. The SNPs sequenced included rs2586490 in collagen type I alpha 1 chain (), rs1882435 in collagen type IV alpha 3 chain (), rs2277698 in metallopeptidase inhibitor 2 (), and rs1800468 in transforming growth factor beta 1 ().
We found a higher frequency of the normal allele in the control group (65.5%) and the homozygous mutated genotype in the case group (64.3%) for rs2586490 in (p=0.023). An unplanned finding in the cervical insufficiency group was a higher gestational age of delivery (median≥38 weeks) in the mutated allele than in the wild-type genotype (median of 28.2 weeks) for rs2857396, which is also in the gene (p=0.011).
The findings of the present study corroborate the hypothesis that cervical insufficiency has a genetic component and probably involves genes encoding proteins in the extracellular matrix, in addition to inflammatory processes.
研究特定单核苷酸多态性(SNP)与宫颈机能不全的关联及其与产科病史的关系。
纳入 28 例宫颈机能不全患者(病例组)和 29 例非妊娠妇女(对照组)。测序的 SNP 包括 I 型胶原α1 链中的 rs2586490()、IV 型胶原α3 链中的 rs1882435()、金属肽酶抑制剂 2 中的 rs2277698()和转化生长因子β 1 中的 rs1800468()。
我们发现,在 rs2586490 中,对照组的正常等位基因频率较高(65.5%),病例组的纯合突变基因型频率较高(64.3%)(p=0.023)。在宫颈机能不全组中,一个意外的发现是 rs2857396 中的突变等位基因的分娩胎龄较高(中位数≥38 周),而野生型基因型的分娩胎龄较低(中位数为 28.2 周),该 SNP 也位于 基因中(p=0.011)。
本研究的结果证实了宫颈机能不全具有遗传成分的假设,并且可能涉及细胞外基质中编码蛋白质的基因,以及炎症过程。