谷胱甘肽 – S转移酶基因多态性对6月龄幼儿智力发育的判断价值

  目的  通过出生队列研究设计，探讨多环芳烃（PAHs）代谢途径关键酶基因多态性对幼儿出生后36月龄左右神经发育的影响。  方法  于2014年1 — 12月采集850名幼儿分娩时的脐带血，提取DNA，采用Sequenom MassArray系统测定PAHs代谢与解毒关键酶不同基因型；3年后利用Gesell发育诊断量表评价幼儿5个功能区神经发育情况。  结果  单因素方差分析结果显示，CYP1A1中rs2606345的次要等位基因频率纯合子AA的大运动[（109.14 ± 4.38）分]、精细运动[（111.00 ± 5.69）分]和语言[（106.29 ± 5.77）分]的发育商（DQ）得分高于CC的（104.99 ± 5.25）、（105.95 ± 5.84）、（101.73 ± 3.61）分和CA的（104.54 ± 5.55）、（105.60 ± 6.35）、（101.34 ± 4.11）分（P < 0.05）；rs4646421的次要等位基因频率纯合子（AA）适应性行为DQ得分[（109.37 ± 77.46）分]高于GG[（102.49 ± 4.10）分]和AG[（101.86 ± 3.91）分]（P < 0.05）。CYP1A2中rs2069526、rs2472304以及CYP1B1中rs10012、rs2617266、rs9341266、rs10175368均表现出与CYP1A1、CYP1A2相同趋势的表型与部分神经发育功能分区的相关性。  结论  PAHs代谢途径关键酶基因多态性可能影响3岁龄儿童神经发育，提示出生后早期PAHs暴露可能影响幼儿的神经发育。

Prenatal airborne polycyclic aromatic hydrocarbon exposure and child IQ at age 5 years

  Objective  To investigate possible effects of polymorphism of key enzyme genes in the metabolic pathway of polycyclic aromatic hydrocarbons (PAHs) on the neurodevelopment among infants aged 3 years old in a birth cohort.  Methods  We collected umbilical cord blood samples of 850 newborns delivered in 5 main general hospitals in Qingdao city of Shandong province throughout 2014. DNA were extracted from the samples and gene genotypes of key enzymes in PAHs metabolic pathway (cytochrome P450, CYP) were determined with Sequenom MassArray system. The newborns were followed-up and their neurodevelopment at 3 years old were assessed with Gesell Developmental Diagnoses Scale (GGDS)  Results  The results of one-way analysis of variance (ANOVA) indicated that compared to the infants with minor allele homozygote (CC) or major allele heterozygote (CA), the infants with minor allele homozygote (AA) of CYP1A1 rs2606345 had significantly higher development quotient (DQ) for gross motor behavior (109.14 ± 4.38 vs. 104.99 ± 5.25 or 104.54 ± 5.55), fine motor behavior (111.00 ± 5.69 vs. 105.95 ± 5.84 or 105.6 ± 6.35), and language (106.29 ± 5.77 vs. 101.73 ± 3.61 or 101.73 ± 3.61)(P < 0.05 for all); the infants with minor allele homozygote (AA) of CYP1A1 rs4646421 had significantly higher DQ for adaptation behavior in comparison with those with major allele homozygote (CC) or heterozygote (CA)(109.37 ± 77.46 vs. 102.49 ± 4.1 or 101.86 ± 3.91)(both P < 0.05). The results also demonstrated similar correlations between neurodevelopment and gene phenotypes of CYP1A2 rs2069526 and rs2472304 and CYP1B1 rs10012, rs2617266, rs9341266, and rs10175368 among the infants.  Conclusion  Gene polymorphisms of key enzymes in metabolic pathway of polycyclic aromatic hydrocarbons may influence neurodevelopment in 3 years old infants, which suggests that postnatal PAHs exposure might affect infant's neurodevelopment.