内皮型一氧化氮合酶3基因多态性与复发性早期自然流产的关联

[Association of genetic polymorphisms in endothelial nitric oxide synthase 3 gene with recurrent early spontaneous abortion].

作者信息

Fan Wei, Li Shang-wei, Wang Yan

机构信息

Reproductive Medical Center, West China Second Hospital, Sichuan University, Chengdu, Sichuan, 610041 P R China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Feb;24(1):23-6.

PMID:17285538

Abstract

OBJECTIVE

To explore the association of nitric oxide synthase 3 (NOS3) gene variable number of tandem repeat(VNTR) polymorphism in intron 4 and an 894(G/T) mutation at exon 7 with recurrent early spontaneous abortion (RESA).

METHODS

One hundred and forty RESA women (patient group) and 140 healthy women with at least 1 pregnancy and without a history of pregnancy complications (control group) were included. The genotypes of NOS3 gene VNTR polymorphism were determined by polymerase chain reaction and agarose gel electrophoresis. The 894(G/T) mutation of genotypes of NOS3 gene at exon 7 was assessed by polymerase chain reaction-restrictive fragment length polymorphism.

RESULTS

The frequencies of aa and ba genotypes and a allele of NOS3 gene were higher in patient group than in control group (chi square: 4.51, P< 0.05; chi square: 4.29, P<0.05). The aa and ba genotypes were significantly associated with RESA (OR:1.8, 95% CI: 1.04-3.24). There was no significant difference in TT and GT genotypes and T allele of NOS3 gene between RESA patient group and control group (chi square: 1.16, P> 0.05; chi square:1.12, P> 0.05). 894(G/T) polymorphism may be not associated with RESA.

CONCLUSION

The genetic polymorphism of NOS3 gene 27 bp VNTR was associated with RESA. The genetic polymorphism of NOS3 gene 894(G/T) may be not associated with RESA. These results support that a allele of the NOS3 gene may be susceptibility allele.

摘要

目的

探讨一氧化氮合酶3（NOS3）基因第4内含子可变数目串联重复序列（VNTR）多态性及第7外显子894（G/T）突变与复发性早期自然流产（RESA）的关系。

方法

纳入140例RESA患者（患者组）和140例至少有1次妊娠且无妊娠并发症史的健康女性（对照组）。采用聚合酶链反应和琼脂糖凝胶电泳法检测NOS3基因VNTR多态性的基因型。采用聚合酶链反应-限制性片段长度多态性法评估NOS3基因第7外显子894（G/T）突变的基因型。

结果

患者组NOS3基因aa和ba基因型及a等位基因频率高于对照组（χ²=4.51，P<0.05；χ²=4.29，P<0.05）。aa和ba基因型与RESA显著相关（OR：1.8，95%CI：1.04-3.24）。RESA患者组与对照组之间NOS3基因TT和GT基因型及T等位基因频率差异无统计学意义（χ²=1.16，P>0.05；χ²=1.12，P>0.05）。894（G/T）多态性可能与RESA无关。