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初潮时的母亲年龄基因多态性与子代出生体重相关。

Maternal Age at Menarche Gene Polymorphisms Are Associated with Offspring Birth Weight.

作者信息

Reshetnikova Yuliya, Churnosova Maria, Stepanov Vadim, Bocharova Anna, Serebrova Victoria, Trifonova Ekaterina, Ponomarenko Irina, Sorokina Inna, Efremova Olga, Orlova Valentina, Batlutskaya Irina, Ponomarenko Marina, Churnosov Vladimir, Eliseeva Natalya, Aristova Inna, Polonikov Alexey, Reshetnikov Evgeny, Churnosov Mikhail

机构信息

Department of Medical Biological Disciplines, Belgorod State National Research University, 308015 Belgorod, Russia.

Research Institute for Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, 634050 Tomsk, Russia.

出版信息

Life (Basel). 2023 Jul 7;13(7):1525. doi: 10.3390/life13071525.

Abstract

In this study, the association between maternal age at menarche (AAM)-related polymorphisms and offspring birth weight (BW) was studied. The work was performed on a sample of 716 pregnant women and their newborns. All pregnant women underwent genotyping of 50 SNPs of AAM candidate genes. Regression methods (linear and Model-Based Multifactor Dimensionality Reduction (MB-MDR)) with permutation procedures (the indicator p was calculated) were used to identify the correlation between SNPs and newborn weight (transformed BW values were analyzed) and in silico bioinformatic examination was applied to assess the intended functionality of BW-associated loci. Four AAM-related genetic variants were BW-associated including genes such as (rs7589318) (β = 0.202/p = 0.015), (rs757647) (β = 0.323/p = 0.005), (rs1079866) (β = 0.110/p = 0.014) and (rs999460) (β = -0.176/p = 0.015). Ten BW-significant models of interSNPs interactions (p ≤ 0.001) were identified for 20 polymorphisms. SNPs rs7538038 , rs713586 , rs12324955 and rs713586 -rs12324955 two-locus interaction were included in the largest number of BW-associated models (30% models each). BW-associated AAM-linked 22 SNPs and 350 proxy loci were functionally related to 49 genes relevant to pathways such as the hormone biosynthesis/process and female/male gonad development. In conclusion, maternal AMM-related genes polymorphism is associated with the offspring BW.

摘要

在本研究中,对初潮年龄(AAM)相关多态性与后代出生体重(BW)之间的关联进行了研究。该研究以716名孕妇及其新生儿为样本展开。所有孕妇均对AAM候选基因的50个单核苷酸多态性(SNP)进行了基因分型。采用回归方法(线性回归和基于模型的多因素降维法(MB - MDR))及排列程序(计算指标p)来确定SNP与新生儿体重之间的相关性(对转换后的BW值进行分析),并应用计算机生物信息学检查来评估BW相关基因座的预期功能。四个与AAM相关的基因变异与BW相关,包括 (rs7589318)(β = 0.202/p = 0.015)、 (rs757647)(β = 0.323/p = 0.005)、 (rs1079866)(β = 0.110/p = 0.014)和 (rs999460)(β = -0.176/p = 0.015)。针对20个多态性,确定了10个具有显著BW效应的基因座间相互作用模型(p≤0.001)。SNP rs7538038 、rs713586 、rs12324955 以及rs713586 - rs12324955 两位点相互作用包含在最多的与BW相关的模型中(各占30%的模型)。与BW相关的AAM连锁的22个SNP和350个代理基因座在功能上与49个基因相关,这些基因涉及激素生物合成/过程以及女性/男性性腺发育等途径。总之,母亲初潮年龄相关基因多态性与后代出生体重相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/70bf/10381708/628e98a253e8/life-13-01525-g001.jpg

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