Review
Biochemistry & Molecular Biology
Jasmina Isakovic, Iva Simunic, Denis Jagecic, Valentina Hribljan, Dinko Mitrecic
Summary: Neural tube defects (NTDs) are the second most common congenital malformations of humans, with genetic and environmental risk factors playing important roles. Prevention includes folic acid fortification and inositol supplementation, while treatment approaches vary depending on developmental stage and lesion location.
Review
Health Care Sciences & Services
Ahmad K. Almekkawi, Marwa W. AlJardali, Hicham M. Daadaa, Alison L. Lane, Ashley R. Worner, Mohammad A. Karim, Adrienne C. Scheck, Richard E. Frye
Summary: Neural tube defects (NTDs) are congenital abnormalities in the central nervous system. SNPs in the folate pathway genes MTHFR, MTRR, and RFC are highly associated with NTD risk, especially in the Asian population. Further high-quality research from diverse ethnicities is needed to gain a more comprehensive understanding of the role of folate metabolism in NTDs.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Medical Laboratory Technology
Xinghong Yin, Bo Wang, Zhiqiang Yan, Lulu Hu, Xinhai Zhang
Summary: The rs1965708 variants of SP-A gene polymorphism are associated with allergic rhinitis, and the A allele could increase the allergic rhinitis risk. Interactions between rs1965708 AA or AC and smoking increased the allergic rhinitis risk.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2021)
Article
Pediatrics
Xiaolin Lu, Shuyan Yang, Min Jie, Shan Wang, Chunrong Sun, Lihua Wu, Shaoyan Chang, Pei Pei, Shuowen Wang, Ting Zhang, Li Wang
Summary: Disturbed methylation status of the germline differentially methylated region (gDMR) of PEG10/SGCE cluster due to folate deficiency is associated with an increased occurrence of spina bifida, leading to inhibited expression of PEG10 and abnormal activation of apoptosis in spina bifida.
PEDIATRIC RESEARCH
(2022)
Review
Genetics & Heredity
Richard H. Finnell, Carlo Donato Caiaffa, Sung-Eun Kim, Yunping Lei, John Steele, Xuanye Cao, Gabriel Tukeman, Ying Linda Lin, Robert M. Cabrera, Bogdan J. Wlodarczyk
Summary: Structural congenital malformations are the leading cause of infant mortality in the United States, with close to 3% of newborns presenting with birth defects. Neural tube defects (NTDs) are among the most prevalent human birth defects, with spinal bifida and encephalocele as major classifications.
FRONTIERS IN GENETICS
(2021)
Article
Obstetrics & Gynecology
Zhen Guan, Yingchao Liang, ZhiQiang Zhu, Aiyun Yang, Shen Li, Xiuwei Wang, Jianhua Wang
Summary: The study found that fetal ITPK1 gene polymorphisms were associated with the incidence of neural tube defects, particularly spina bifida. These polymorphisms may serve as genetic risk factors for spina bifida.
REPRODUCTIVE SCIENCES
(2023)
Article
Environmental Sciences
Jia-Yu Zhang, Hui-Xu Dai, Qi-Jun Wu, Jing Li, Yan-Hong Huang, Zong-Jiao Chen, Li-Li Li, Yan-Ling Chen, Shu Liu, Cheng-Zhi Jiang
Summary: This study found that maternal exposure to SO2 during the first and second month after conception was positively associated with an increased risk of NTDs. Positive associations also emerged in other exposure windows, except for the third month before conception.
JOURNAL OF EXPOSURE SCIENCE AND ENVIRONMENTAL EPIDEMIOLOGY
(2021)
Article
Genetics & Heredity
Zixian Wan, Lu Ye, Guange Chen, Chaoyi Xiong, Zhenbo Ouyang, Liangzhi Wu, Jing He, Ping Duan, Youkun Jie, Qiushi Zhang, Wenfeng Hua
Summary: The study found that WTAP gene polymorphisms were associated with susceptibility to ovarian endometriosis among Chinese women.
FRONTIERS IN GENETICS
(2023)
Article
Medicine, General & Internal
Qianbo Cui, Jing Li, Jing Wang
Summary: The study found no association between the polymorphisms of TNF-alpha gene loci rs1799964, rs1800630, and rs769178 and allergic rhinitis (AR). However, the GT and GT+TT genotypes of rs769178 were found to increase the risk of AR compared to GG, and haplotypes C-G-A-T and C-G-C-T were associated with an increased risk of AR, while the C-G-C-G haplotype decreased the risk. Stratified and crossover analyses revealed significant associations between certain factors and the risk of AR.
INTERNATIONAL JOURNAL OF GENERAL MEDICINE
(2021)
Article
Multidisciplinary Sciences
Aynalem Gashaw, Sisay Shine, Osman Yimer, Melat Wodaje
Summary: A hospital-based case-control study in North Shoa Zone Hospitals identified factors such as family annual income less than 24,000ETB, history of still birth, history of abortion, preconception tea use, and pesticides/chemical exposure to be positively associated with neural tube defects. Conversely, preconception care and taking iron/folic acid/multivitamin during pregnancy showed a protective effect against neural tube defects.
Article
Multidisciplinary Sciences
Muhammad Zubayr Saib, Barnesh Lalloo Dhada, Colleen Aldous, Helen Louise Malherbe
Summary: This study aimed to address the lack of data on congenital anomalies in South Africa, finding a birth prevalence rate of 15.57 per 1,000 live births at Edendale Hospital, with musculoskeletal system anomalies being the most common.
Article
Immunology
Ruo-Xi Chen, Meng-Di Dai, Qing-Zhao Zhang, Mei-Ping Lu, Mei-Lin Wang, Min Yin, Xin-Jie Zhu, Zhong-Fei Wu, Zheng-Dong Zhang, Lei Cheng
Summary: This study explored the genetic association of allergic rhinitis (AR) with single nucleotide polymorphisms (SNPs) in the Toll-like receptor (TLR) signaling pathway. It found that genetic polymorphisms in TLR2 and CD14, as well as gene-gene interactions, were associated with susceptibility to AR in this Han Chinese population. However, the results regarding gene-environment interactions were limited.
JOURNAL OF INFLAMMATION RESEARCH
(2022)
Article
Orthopedics
Yuan Wang, Yexin Wang, Da Liang, Hongtao Hu, Guangwei Li, Xiaoguang Meng, Bing Zhu, Wei Zhong
Summary: The polymorphisms of the MIR31 host gene (MIR31HG) are associated with the risk of steroid-induced osteonecrosis of the femoral head (SONFH) in the Chinese Han population. Specifically, the rs10965059 polymorphism is correlated with a reduced risk of SONFH in individuals over 40 years old, male populations, and those with bilateral SONFH.
BMC MUSCULOSKELETAL DISORDERS
(2022)
Article
Cardiac & Cardiovascular Systems
Dongxu Wang, Hualan Wu, Min Dong, Qing Zhang, Anxu Zhao, Xinlong Zhao, Jia Chong, Minghui Du, Yan Wang, Haifeng Shi, Shuanghu Wang, Fang Wang, Jianping Cai, Jiefu Yang, Dapeng Dai, Hao Chen
Summary: This study aimed to investigate the relationship between warfarin sensitivity and CYP2C9 * non-3 variants. Through DNA sequencing and collection of clinical data from nearly two thousand individuals, it was found that CYP2C9 * non-3 variants were associated with warfarin sensitivity. Therefore, individuals with these variants may need to consider choosing new oral anticoagulants for anticoagulation therapy.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Medicine, General & Internal
Guanghui Tong, Weiwei Tong, Ran He, Zhigang Cui, Sixuan Li, Baosen Zhou, Zhihua Yin
Summary: This study found that rs3200401 in the lncRNA MALAT1 gene is associated with the susceptibility of non-small cell lung cancer and lung squamous cell carcinoma. However, there is no significant association between rs619586 and lung cancer susceptibility. The study also discovered interactions between genes and cigarette smoking.
INTERNATIONAL JOURNAL OF MEDICAL SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Tian Tian, Xinyuan Lai, Kuanhui Xiang, Xiao Han, Shengju Yin, Robert M. Cabrera, John W. Steele, Yunping Lei, Xuanye Cao, Richard H. Finnell, Linlin Wang, Aiguo Ren
Summary: The study identified significantly higher methylation levels of CHRM1, FGF19, and ITGA7 genes in NTD patients, which were associated with an increased risk for NTDs. Down-regulation of these genes affected the formation and differentiation of neural cells, suggesting their role in NTD development.
Article
Pediatrics
Di Wang, Lei Jin, Jie Zhang, Wenying Meng, Aiguo Ren
Summary: Maternal periconceptional supplementation with folic acid or multiple micronutrients containing folic acid appears to decrease the risk for CHDs, especially critical CHD, in offspring. Supplementation before conception confers a greater protective effect against CHDs. There was no significant difference between folic acid and multiple micronutrients containing folic acid in preventing CHDs.
JOURNAL OF PEDIATRICS
(2022)
Article
Nutrition & Dietetics
Tian Tian, Jinming Liu, Xinchen Lu, Xinghua Qiu, Jing Wei, Chengrong Wang, Mengyuan Liu, Shengju Yin, Lei Jin, Linlin Wang, Zhiwen Li, Tong Zhu, Aiguo Ren
Summary: This study explores the association between selected essential trace elements (ETEs) and metabolic pathway markers in maternal serum and the likelihood of Neural Tube Defects (NTDs). The results suggest that higher concentrations of selenium (Se) are associated with a decreased chance of NTDs, while certain metabolic pathway markers are associated with an increased risk of NTDs. The study also suggests that the arginine pathway may mediate the association between Se and NTD occurrence.
CLINICAL NUTRITION
(2022)
Article
Environmental Sciences
Ruiwei Xu, Xin Meng, Yiming Pang, Hang An, Bin Wang, Le Zhang, Rongwei Ye, Aiguo Ren, Zhiwen Li, Jicheng Gong
Summary: Exposure to multiple types of metals/metalloids during early pregnancy is positively associated with the risk of spontaneous preterm birth. Oxidative stress and DNA methylation are significantly associated with exposure to multiple metals/metalloids, but have not been proven to be the mediating mechanisms of metals increasing the risk of spontaneous preterm birth.
ENVIRONMENT INTERNATIONAL
(2022)
Article
Environmental Sciences
Shuangbo Xia, Jufen Liu, Jinjuan Zhang, Yushan Du, Jingsong Chen, Lei Jin, Linlin Wang, Xuejuan Zhang, Aiguo Ren
Summary: This study found that using coal or biomass stoves for cooking is associated with an increased risk of red blood cell folate insufficiency among pregnant women. Promoting the use of clean energy and proper ventilation, especially in rural areas, is crucial for improving the health of pregnant women and their offspring.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL HEALTH RESEARCH
(2023)
Article
Engineering, Environmental
Shengju Yin, Tian Tian, Chengrong Wang, Di Wang, Xin Pi, Mengyuan Liu, Lei Jin, Jufen Liu, Linlin Wang, Zhiwen Li, Aiguo Ren, Chenghong Yin
Summary: The study found that uranium exposure may increase the risk of fetal neural tube defects, with a significantly higher risk for NTDs when uranium concentration exceeds the median value. Compared to the lowest quartile of uranium concentration, the risk of NTDs increased by 1.36-fold, 1.77-fold, and 3.60-fold for the second, third, and fourth quartiles, respectively.
JOURNAL OF HAZARDOUS MATERIALS
(2022)
Article
Developmental Biology
Xin Pi, Di Wang, Chengrong Wang, Zhiwen Li, Linlin Wang, Wentao Yue, Chenghong Yin, Lei Jin, Aiguo Ren
Summary: This study found that placental concentrations of cesium and sodium were respectively inversely and positively associated with the odds of NTDs. Additionally, the occurrence of NTDs decreased with increasing levels of the five-metal mixtures.
Article
Reproductive Biology
Shengju Yin, Jing Wei, Chengrong Wang, Lei Jin, Linlin Wang, Zhiwen Li, Yali Zhang, Chenghong Yin, Aiguo Ren
Summary: Levels of alkali elements and alkaline earth elements in maternal serum are associated with the occurrence of fetal orofacial clefts. Higher levels of sodium and strontium are associated with an increased odds of OFCs, while higher levels of potassium are associated with a decreased odds of OFCs.
REPRODUCTIVE TOXICOLOGY
(2022)
Article
Pediatrics
Jing Lin, Cheng Wang, Sisi Li, Jie Zhang, Lei Jin, Mingkun Tong, Wenying Meng, Aiguo Ren, Lei Chen
Summary: Maternal periconceptional folic acid supplementation has varying effects on newborn birth weights, with FAO supplementation showing no impact, while MMFA supplementation may increase birth weight. High compliance of MMFA or FAO supplementation can reduce the risk of SGA, with MMFA having a stronger effect.
FRONTIERS IN PEDIATRICS
(2022)
Article
Water Resources
Shengju Yin, Ying Sun, Jinhui Yu, Zaiming Su, Mingkun Tong, Yali Zhang, Jufen Liu, Linlin Wang, Zhiwen Li, Aiguo Ren, Lei Jin
Summary: This study found that prenatal exposure to PAHs may increase the risk for fetal neural tube defects. Specifically, concentrations of four PAHs above the median of all participants were significantly associated with an increased NTD risk. Additionally, the use of an indoor stove for heating and use of coal or wood for cooking were positively correlated with PAH levels in cord tissue.
EXPOSURE AND HEALTH
(2023)
Article
Water Resources
Xin Pi, Chengrong Wang, Shengju Yin, Lei Jin, Zhiwen Li, Linlin Wang, Jufen Liu, Yali Zhang, Aiguo Ren
Summary: This study examined the association between arsenic exposure and neural tube defects (NTDs) and found that arsenic exposure is a risk factor for NTDs. However, this risk can be attenuated by folic acid supplementation.
EXPOSURE AND HEALTH
(2023)
Article
Environmental Sciences
Lei Yang, Ning Wang, Shuo Liu, Qingyang Xiao, Guannan Geng, Xi Zhang, Huichao Li, Yixuan Zheng, Fuyu Guo, Qingyu Li, Jiajianghui Li, Aiguo Ren, Tao Xue, Jiafu Ji
Summary: Long-term exposure to ambient PM2.5 is associated with an increased incidence of lung cancer, and this study found that it also decreases the survival rate for lung cancer patients. However, the implementation of clean air actions in Beijing has been shown to prolong the survival time of these patients by reducing PM2.5 levels.
SCIENCE OF THE TOTAL ENVIRONMENT
(2023)
Article
Environmental Sciences
Huiting Chen, Yali Zhang, Le Zhang, Jufen Liu, Lei Jin, Aiguo Ren, Zhiwen Li
Summary: Indoor air pollution in Chinese rural areas has been found to increase the risk of neural tube defects (NTDs), with exposure to tobacco-sourced and coal-sourced pollution showing a significant association. A population-based case-control study revealed a 3.41 times higher risk of NTDs among women exposed to indoor air pollution compared to those not exposed. The risk increased with higher levels of pollution, indicating a dose-response relationship. The use of coal stoves for heating and passive smoking were identified as significant risk factors for NTD occurrence. The study highlights the importance of addressing indoor air pollution and its impact on reproductive health in rural China.
ENVIRONMENT INTERNATIONAL
(2023)
Article
Environmental Sciences
Xin Pi, Chengrong Wang, Di Wang, Shengju Yin, Lei Jin, Zhiwen Li, Linlin Wang, Wentao Yue, Chenghong Yin, Aiguo Ren
Summary: This study investigated the association between prenatal exposure to copper, silver, and titanium and the risk for fetal neural tube defects (NTDs). The findings suggest that silver exposure is associated with an increased risk for NTDs in a dose-response manner, and the risk appears to be elevated at higher concentrations. Furthermore, the concentration of silver in placenta is positively correlated with maternal dietary intake. These results highlight the importance of silver exposure as a potential contributing factor to NTDs.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2023)
Letter
Engineering, Environmental
Yanqiu Feng, Shu Su, Weinan Lin, Mengyuan Ren, Ning Gao, Bo Pan, Le Zhang, Lei Jin, Yali Zhang, Zhiwen Li, Rongwei Ye, Aiguo Ren, Bin Wang
Summary: A nested case-control study was conducted to analyze biomarkers of external chemical exposure, lipidomics, and immunity in 30 women with SPB and 30 women without. The findings showed higher serum lipid concentration in SPB cases compared to controls, while no significant differences were observed in chemical and immune biomarkers. Random forest and extreme gradient boosting models had a prediction accuracy of over 90%. Glycerophospholipids were identified as the most abundant lipidomic features, followed by glycerolipids and sphingolipids, with FA(21:0) contributing the most to the prediction performance. Maternal exposure to various elements can contribute to SPB risk through interaction with GP metabolism.
ENVIRONMENTAL SCIENCE & TECHNOLOGY LETTERS
(2023)