首页|脂代谢相关基因单核苷酸多态性与男性精液质量的关联研究

脂代谢相关基因单核苷酸多态性与男性精液质量的关联研究

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目的:探究脂质代谢基因单核苷酸多态性对男性精液质量的影响.方法:选取2023年2月至2023年10月邢台不孕不育专科医院和河北省人类精子库284例精液样本,CASA进行精液检测,提取血液DNA并利用MassARRAY® Systems进行目标基因分型,对13个脂质代谢相关基因的单核苷酸多态性位点进行基因型分型,比较不同组别及BMI分层下基因型的分布差异及不同基因型精液质量的差异.结果:FADS2 rs2727270突变纯合(TT)基因型可能是弱精子症的危险因素(OR=4.420,P=0.047).APOA2 rs5082-A等位基因和MC4R rs17782313杂合(TC)基因型可能是少精子症的保护性因素(OR=0.422,0.389;P=0.045,0.043).MC4R rs17782313杂合基因型(TC)的精子浓度显著高于纯合基因型,分层分析显示伴随BMI的增加会降低TC基因型的保护作用.APOA2 rs5082和MC4R rs17782313基因型交互对弱精子症的保护作用仍存在.结论:FADS2(rs2727270)、APOA2(rs5082)和MC4R(rs17782313)与精液参数异常发生的风险显著相关.
Correlation of lipid metabolism-related single nucleotide polymorphisms with abnormal semen quality in men
Objective:To explore the potential impact of lipid metabolism-related single nucleotide polymorphisms(SNP)on semen quality in men.Methods:We selected 284 semen samples from Xingtai Infertility Hospital and Hebei Human Sperm Bank collected between February and October 2023,33 from oligozoospermia(OS),97 from asthenozoospermia(AS)and 54 from oligoas-thenozoospermia(OAS)patients and the other 100 from normal men.We performed computer-assisted semen analysis(CASA)of the samples,extracted blood DNA and,using the Mass ARRAY® System,genotyped the target genes,determined the genotypes of 13 SNPs and compared their distribution,their correlation with BMI and semen quality in different groups.Results:The mutant homozygous(TT)genotype of the FADS2 rs2727270 gene seemed to be a risk factor for AS(OR=4.420,P=0.047),while the APOA2 rs5082-A allele and MC4R rs17782313 heterozygous(TC)genotype important protective factors for OS(OR=0.422 and 0.389;P=0.045 and 0.043,respectively).A significantly higher sperm concentration was found associated with the MC4R rs17782313 heter-ozygous(TC)genotype than with the homozygous(CC)genotype.Stratification analysis showed that the protective effect of the TC genotype was decreased with increased BMI and remained with the interaction of the rs5082 and rs17782313 genotypes.Conclusion:FADS2 rs2727270,APOA2 rs5082 and MC4R rs17782313 were significantly correlated with the risk of abnormal semen parameters.

oligozoospermiaasthenozoospermialipid metabolismsingle nucleotide polymorphism

刘璇、李媛静、李悦嘉、毕佳杰、马婧、戴芳芳、王树松

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河北医科大学研究生学院,河北石家庄 050024

河北师范大学化学与材料科学学院,河北石家庄 050017

承德医学院,河北承德 067000

河北省生殖健康医院/河北省生殖医学重点实验室,河北石家庄 050071

邢台不孕不育专科医院,河北邢台 054000

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少精子症 弱精子症 脂质代谢 单核苷酸多态性

河北省政府资助临床医学优秀人才培养项目河北省重点研发计划项目

ZF202419222377722D

2024

中华男科学杂志
南京军区南京总医院

中华男科学杂志

CSTPCD
影响因子:1.052
ISSN:1009-3591
年,卷(期):2024.30(3)