高级检索
当前位置: 首页 > 详情页

The relationship of maternal polymorphisms of genes related to meiosis and DNA damage repair with fetal chromosomal stability

| 导出 | |

文献详情

资源类型:
WOS体系:

收录情况: ◇ SCIE

机构: [1]First Peoples Hosp Yunnan Prov,Dept Med Genet,NHC Key Lab Periconcept Hlth Birth Western China,Yunnan Prov Key Lab Birth Defects & Genet Dis,157 Jinbi Rd,Kunming 650032,Peoples R China [2]Kunming Univ Sci & Technol, Sch Med, Kunming 650500, Yunnan, Peoples R China [3]Kunming Univ Sci & Technol, Fac Environm Sci & Engn, Kunming, Yunnan, Peoples R China [4]First Peoples Hosp Yunnan Prov,Dept Cardiothorac Surg,157 Jinbi Rd,Kunming 650032,Peoples R China
出处:
ISSN:

关键词: chromosomal de novo structural abnormalities pregnancy fetal aneuploidy fetal chromosome stability gene polymorphism meiosis and DNA damage repair

摘要:
Objectives: To evaluate the association between maternal polymorphisms of NANOS3 rs2016163, HELQ rs4693089, PRIM1 rs2277339, TLK1 rs10183486, ERCC6 rs2228526, EXO1 rs1635501, DMC1 rs5757133, and MSH5 rs2075789 and fetal chromosomal abnormality. Methods: This retrospective case-control study included 571 women with fetal chromosome abnormalities (330 pregnant women diagnosed with fetal aneuploidy, 241 with fetal de novo structural chromosome pregnancy) and 811 healthy pregnant women between January 2018 and April 2022. All the above polymorphisms were tested using SNaPshot. Results: All the eight polymorphisms were analyzed for genotypes, alleles, under dominant and recessive genetic models. Significant distribution differences of TLK1 rs10183486 in fetal chromosome structural abnormality were found between the case group and control subjects who were <35 years of age [Genotype: p=0.029; Dominant: OR (95 %CI)=0.46 (0.25-0.82), p=0.01 and allele: OR (95 %CI)=0.47 (0.27-0.82), p=0.01 respectively], while no difference was found in the recessive model [OR (95 %CI)=2.49 (0.31-20.40), p=0.39]. In advanced age subgroups for fetal aneuploidy, significant differences were found in genotypes analysis of PRIM1 rs2277339 (p=0.008), allele analysis of TLK1 rs10183486 [OR (95 %CI)=0.62 (0.42-0.91), p=0.02]. For the fetal chromosome structural abnormality population, HELQ rs4693089 revealed a significant distribution difference (p=0.01) but not in the allele, dominant and recessive genetic models analysis (p>0.05 individually). Conclusions: For older women, maternal PRIM1 rs2277339 and TLK1 rs10183486 polymorphisms may be associated with fetal aneuploidy, while HELQ rs4693089 may be associated with fetal chromosome structural abnormality. Also, carriers of T allele of TLK1 rs10183486 have a lower risk of fetal chromosome structural abnormality in younger women.

基金:

基金编号: 2018ZF009 2019ZF015 82060039

语种:
WOS:
PubmedID:
中科院(CAS)分区:
出版当年[2023]版:
大类 | 4 区 医学
小类 | 4 区 妇产科学 4 区 儿科
最新[2023]版:
大类 | 4 区 医学
小类 | 4 区 妇产科学 4 区 儿科
JCR分区:
出版当年[2022]版:
Q2 PEDIATRICS Q3 OBSTETRICS & GYNECOLOGY
最新[2023]版:
Q2 PEDIATRICS Q3 OBSTETRICS & GYNECOLOGY

影响因子: 最新[2023版] 最新五年平均 出版当年[2022版] 出版当年五年平均 出版前一年[2021版] 出版后一年[2023版]

第一作者:
第一作者机构: [1]First Peoples Hosp Yunnan Prov,Dept Med Genet,NHC Key Lab Periconcept Hlth Birth Western China,Yunnan Prov Key Lab Birth Defects & Genet Dis,157 Jinbi Rd,Kunming 650032,Peoples R China
共同第一作者:
通讯作者:
通讯机构: [1]First Peoples Hosp Yunnan Prov,Dept Med Genet,NHC Key Lab Periconcept Hlth Birth Western China,Yunnan Prov Key Lab Birth Defects & Genet Dis,157 Jinbi Rd,Kunming 650032,Peoples R China [2]Kunming Univ Sci & Technol, Sch Med, Kunming 650500, Yunnan, Peoples R China [3]Kunming Univ Sci & Technol, Fac Environm Sci & Engn, Kunming, Yunnan, Peoples R China
推荐引用方式(GB/T 7714):
APA:
MLA:

资源点击量:82490 今日访问量:0 总访问量:681 更新日期:2025-01-01 建议使用谷歌、火狐浏览器 常见问题

版权所有©2020 云南省第一人民医院 技术支持:重庆聚合科技有限公司 地址:云南省昆明市西山区金碧路157号