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:
Major science and technology projects of Yunnan provincial Samp;T plan projects [2018ZF009]; Major Scientific and Technological Project of Yunnan Province, Yunnan Provincial Clinical Research Center for Birth Defects and Rare Diseases [2019ZF015]; National Natural Science Foundation of China [82060039]
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):
Chan Ying,Tang Xinhua,Cai Dongling,et al.The relationship of maternal polymorphisms of genes related to meiosis and DNA damage repair with fetal chromosomal stability[J].JOURNAL OF PERINATAL MEDICINE.2023,51(8):1082-1096.doi:10.1515/jpm-2022-0613.
APA:
Chan, Ying,Tang, Xinhua,Cai, Dongling,Liu, Yize,Li, Dongmei...&Zhu, Baosheng.(2023).The relationship of maternal polymorphisms of genes related to meiosis and DNA damage repair with fetal chromosomal stability.JOURNAL OF PERINATAL MEDICINE,51,(8)
MLA:
Chan, Ying,et al."The relationship of maternal polymorphisms of genes related to meiosis and DNA damage repair with fetal chromosomal stability".JOURNAL OF PERINATAL MEDICINE 51..8(2023):1082-1096