Polymorphisms of Placental Iodothyronine Deiodinase Genes in a Rural Area of Northern China with High Prevalence of Neural Tube Defects.

IF 1.1 4区生物学 Q4 GENETICS & HEREDITY Human Heredity Pub Date : 2023-01-01 Epub Date: 2023-03-21 DOI:10.1159/000530112

Fang Wang, Yan-Hong Gu, Jin Guo, YiHua Bao, ZhiYong Qiu, Ping Zheng, Masaru Ushijima, Masaaki Matsuura, Ting Zhang

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Abstract

Introduction: We have reported that high total homocysteine and the coexistence of inadequate thyroid hormones in maternal serum increase the risk of fetal neural tube defects (NTDs). Placental iodothyronine deiodinases (DIOs: DIO1, DIO2, and DIO3) play a role in regulating the conversions between different forms of maternal thyroid hormones. This study hypothesized that single nucleotide polymorphisms (SNPs) in placental DIOs genes could be related to NTDs.

Methods: We performed a case-control study from 2007 to 2009 that included pregnant women from Lüliang, Shanxi Province, China. Nine distinct SNPs in DIOs genes were analyzed, and placental samples were obtained from 83 pregnant women with NTD fetuses and 90 pregnant women with normal fetuses. The nine SNPs were analyzed using the Cochran-Armitage test and the Fisher's exact test.

Results: There were no statistically significant differences between case and control in the nine SNPs of DIOs (p > 0.05).

Conclusions: The results of this study suggested that SNPs of DIO genes in the placenta among pregnant women have no statistically significant difference between the two groups, suggesting that other factors might be involved in metabolism of maternal thyroid hormone provided to fetuses, such as epigenetic modification of methylation and homocysteinylation and genomic imprinting in the placenta. Further functional studies on placenta samples are necessary.

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神经管畸形高发的中国北方农村地区胎盘碘甲腺原氨酸脱碘酶基因的多态性

简介我们曾报道，母体血清中高同型半胱氨酸总量和甲状腺激素不足同时存在会增加胎儿神经管畸形（NTD）的风险。胎盘碘甲腺氨酸脱碘酶（DIOs：DIO1、DIO2 和 DIO3）在调节母体甲状腺激素不同形式之间的转换中发挥作用。本研究假设胎盘 DIOs 基因中的单核苷酸多态性（SNPs）可能与 NTDs 有关：我们在 2007 年至 2009 年期间进行了一项病例对照研究，研究对象包括中国山西省吕梁市的孕妇。分析了DIOs基因中9个不同的SNPs，并采集了83名NTD胎儿孕妇和90名正常胎儿孕妇的胎盘样本。采用 Cochran-Armitage 检验和 Fisher's 精确检验对这 9 个 SNPs 进行了分析：结果：DIOs的9个SNPs在病例与对照之间无统计学差异（P> 0.05）：本研究结果表明，孕妇胎盘中DIO基因的SNPs在两组间差异无统计学意义，提示母体提供给胎儿的甲状腺激素的代谢可能与其他因素有关，如胎盘中甲基化和同型半胱氨酸化的表观遗传修饰以及基因组印记。有必要对胎盘样本进行进一步的功能研究。

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来源期刊

Human Heredity 生物-遗传学

CiteScore

2.50

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Gathering original research reports and short communications from all over the world, ''Human Heredity'' is devoted to methodological and applied research on the genetics of human populations, association and linkage analysis, genetic mechanisms of disease, and new methods for statistical genetics, for example, analysis of rare variants and results from next generation sequencing. The value of this information to many branches of medicine is shown by the number of citations the journal receives in fields ranging from immunology and hematology to epidemiology and public health planning, and the fact that at least 50% of all ''Human Heredity'' papers are still cited more than 8 years after publication (according to ISI Journal Citation Reports). Special issues on methodological topics (such as ‘Consanguinity and Genomics’ in 2014; ‘Analyzing Rare Variants in Complex Diseases’ in 2012) or reviews of advances in particular fields (‘Genetic Diversity in European Populations: Evolutionary Evidence and Medical Implications’ in 2014; ‘Genes and the Environment in Obesity’ in 2013) are published every year. Renowned experts in the field are invited to contribute to these special issues.