1.Emerging role of miRNAs, lncRNAs, and circRNAs in pregnancy-associated diseases.
Xiaoxiao FU ; Yuling LI ; Zhen ZHANG ; Bin WANG ; Ran WEI ; Chu CHU ; Ke XU ; Lihua LI ; Yonglin LIU ; Xia LI
Chinese Medical Journal 2023;136(11):1300-1310
Accumulating studies have demonstrated that non-coding RNAs (ncRNAs), functioning as important regulators of transcription and translation, are involved in the establishment and maintenance of pregnancy, especially the maternal immune adaptation process. The endometrial stromal cells (ESCs), trophoblast cells, and decidua immune cells that reside at the maternal-fetal interface are thought to play significant roles in normal pregnancy and pregnancy-associated diseases. Here, we reviewed the up-to-date evidence on how microRNA, long non-coding RNA, and circular RNA regulate ESCs, trophoblast cells, and immune cells and discussed the potential applications of these ncRNAs as diagnostic and therapeutic markers in pregnancy complications.
Pregnancy
;
Female
;
Humans
;
MicroRNAs/genetics*
;
RNA, Long Noncoding/genetics*
;
RNA, Circular/genetics*
;
Trophoblasts
;
Pregnancy Complications/genetics*
2.Advances in hepatitis E epidemiology.
Xin Yue YANG ; Qi Yu HE ; Lin WANG
Chinese Journal of Hepatology 2023;31(5):455-459
Hepatitis E is a viral hepatitis that the hepatitis E virus (HEV) causes. In the early 1980s, the hepatitis E virus was first discovered and identified, and it is one of the important pathogens that cause acute viral hepatitis globally. HEV infection is usually self-limiting, but in some groups of populations, such as pregnant women, patients with chronic liver disease, and the elderly, the prognosis is poor and may result in acute or subacute liver failure or even death. In addition, HEV infection can occur in chronically immunocompromised populations. At present, some regions and countries are not paying enough attention to hepatitis E prevention, diagnosis, and treatment, which suggests that we should study the epidemiology of HEV infection.
Humans
;
Female
;
Pregnancy
;
Aged
;
Hepatitis E/epidemiology*
;
Hepatitis E virus/genetics*
;
Prognosis
;
Liver Failure
;
Pregnancy Complications, Infectious
3.Analysis on influencing factors of HBV intrauterine transmission based on integration of decision tree model and logistic regression model.
Wen Xin CHEN ; Cong JIN ; Ting WANG ; Yan Di LI ; Shu Ying FENG ; Bo WANG ; Yong Liang FENG ; Su Ping WANG
Chinese Journal of Epidemiology 2022;43(1):85-91
Objective: To investigate the influencing factors of HBV intrauterine transmission and their interaction effects by integrating logistic regression model and Chi-squared automatic interaction detector (CHAID) decision tree model. Methods: A total of 689 pairs of HBsAg-positive mothers and their neonates in the obstetrics department of the Third People's Hospital of Taiyuan from 2007 to 2013 were enrolled, and the basic information of mothers and their neonates were obtained by questionnaire survey and medical record review, such as the general demographic characteristics, gestational week and delivery mode. HBV DNA and HBV serological markers of the mothers and newborns were detected by fluorescence quantitative PCR and electrochemiluminescence immunoassay respectively. The CHAID decision tree model and unconditional logistic regression analysis were used to explore the factors influencing HBV intrauterine transmission in neonates of HBsAg-positive mothers. Results: Among the 689 neonates, the incidence of HBV intrauterine transmission was 11.47% (79/689). After adjusted for confounding factors, the first and second logistic multivariate analysis showed that cesarean delivery was a protective factor for HBV intrauterine transmission (OR=0.25, 95%CI: 0.14-0.43; OR=0.27, 95%CI: 0.15-0.46); both models indicated that maternal HBeAg positivity and HBV DNA load ≥2×105 IU/ml before delivery were risk factors of HBV intrauterine transmission (OR=3.89, 95%CI: 2.32-6.51; OR=3.48, 95%CI: 2.12-5.71), respectively. The CHAID decision tree model screened three significant factors influencing HBV intrauterine transmission, the most significant one was maternal HBeAg status, followed by delivery mode and maternal HBV DNA load. There were interactions between maternal HBeAg status and delivery modes, as well as delivery mode and maternal HBV DNA load before delivery. The rate of HBV intrauterine transmission in newborns of HBeAg-positive mothers by vaginal delivery increased from 19.08% to 29.37%; among HBeAg-positive mothers with HBV DNA ≥2×105 IU/ml, the rate of HBV intrauterine transmission increased to 33.33% in the newborns by vaginal delivery. Conclusions: Maternal HBeAg positivity,maternal HBV DNA ≥2×105 IU/ml and vaginal delivery could be risk factors for HBV intrauterine transmission in newborns. Interaction effects were found between maternal HBeAg positivity and vaginal delivery, as well as vaginal delivery and high maternal HBV DNA load. Logistic regression model and the CHAID decision tree model can be used in conjunction to identify the high-risk populations and develop preventive strategies accurately.
DNA, Viral/genetics*
;
Decision Trees
;
Female
;
Hepatitis B Surface Antigens
;
Hepatitis B e Antigens
;
Hepatitis B virus/genetics*
;
Humans
;
Infant, Newborn
;
Infectious Disease Transmission, Vertical
;
Logistic Models
;
Mothers
;
Pregnancy
;
Pregnancy Complications, Infectious/epidemiology*
4.Distributive characteristics of HBV DNA CpG islands in HBsAg positive mothers and its relationship with intrauterine transmission.
Ting WANG ; Dan Dan WANG ; Wen Xin CHEN ; Cong JIN ; Yan Di LI ; Lin Zhu YI ; Shu Ying FENG ; Bo WANG ; Yong Liang FENG ; Su Ping WANG
Chinese Journal of Epidemiology 2022;43(5):728-733
Objective: To investigate the type, length, and CG loci of HBV DNA CpG islands in HBsAg positive maternal C genotype and its relationship with intrauterine HBV transmission, so as to provide a new perspective for the study of intrauterine transmission of HBV. Methods: From June 2011 to July 2013, HBsAg-positive mothers and their newborns who delivered in the obstetrics and gynecology department of the Third People's Hospital of Taiyuan were collected. Epidemiological data were collected through face-to-face questionnaires and electronic medical records. Serum HBV markers and serum HBV DNA were detected by electrochemiluminescence and quantitative fluorescence PCR, respectively. Intrauterine transmission of HBV was determined by positive HBsAg and/or HBV DNA in femoral venous blood before injection of HBV vaccine/Hepatitis B immunoglobulin within 24 h of birth. A total of 22 mothers and their newborns with HBV DNA load ≥106 IU/ml in intrauterine transmission were selected as the intrauterine transmission group, and 22 mothers with HBV DNA load ≥106 IU/ml without intrauterine transmission were chosen as the control group by random seed method. The distribution prediction of CpG islands of HBV DNA in 39 mothers with genotype C by HBV DNA sequencing was analyzed. Results: Among 39 mothers with HBV C genotype, 19 were in the intrauterine transmission group, and 20 were in the control group. The HBV DNA of 39 patients with genotype C traditional CpG island Ⅱ and Ⅲ, while the control group had traditional CpG island Ⅰ and novel CpG island Ⅳ and Ⅴ. The length of CpG island Ⅱ and Ⅲ and the number of CG loci of CpG island Ⅱ in the intrauterine transmission group differed from those in the control group (P<0.05). The CpG island Ⅱ length ≥518 bp and the number of CG loci ≥40 in the intrauterine transmission group (11/19) were significantly higher than those in the control group (2/20) (P<0.05). The length of CpG island Ⅱ and the number of CG loci in the X gene promoter region (Xp region) were higher than those in the control group (P<0.05). In the HBV intrauterine transmission group, most of maternal (12/19) HBV DNA CpG island Ⅱ completely covered the Xp region, which was significantly higher than that in the control group (5/20), and the number of HBV DNA Xp region CG loci was higher than that in the control group (P<0.05). Conclusions: The distribution of maternal C genotype HBV DNA CpG islands is related to intrauterine transmission. The length of CpG island Ⅱ and the number of CG sites may increase the risk of intrauterine transmission of HBV.
Biomarkers
;
CpG Islands
;
DNA, Viral/genetics*
;
Female
;
Hepatitis B
;
Hepatitis B Surface Antigens
;
Hepatitis B virus/genetics*
;
Humans
;
Infant, Newborn
;
Infectious Disease Transmission, Vertical
;
Mothers
;
Pregnancy
;
Pregnancy Complications, Infectious
5.Association between Maternal Drug Use and Cytochrome P450 Genetic Polymorphisms and the Risk of Congenital Heart Defects in Offspring.
Jia Bi QIN ; Liu LUO ; Meng Ting SUN ; Peng HUANG ; Ting Ting WANG ; Sen Mao ZHANG ; Jin Qi LI ; Yi Huan LI ; Le Tao CHEN ; Jing Yi DIAO ; Ping ZHU
Biomedical and Environmental Sciences 2022;35(1):45-57
OBJECTIVE:
This study aimed to assess the associations between maternal drug use, cytochrome P450 ( CYP450) genetic polymorphisms, and their interactions with the risk of congenital heart defects (CHDs) in offspring.
METHODS:
A case-control study involving 569 mothers of CHD cases and 652 controls was conducted from November 2017 to January 2020.
RESULTS:
After adjusting for potential confounding factors, the results show that mothers who used ovulatory drugs (adjusted odds ratio [a OR] = 2.12; 95% confidence interval [ CI]: 1.08-4.16), antidepressants (a OR = 2.56; 95% CI: 1.36-4.82), antiabortifacients (a OR = 1.55; 95% CI: 1.00-2.40), or traditional Chinese drugs (a OR = 1.97; 95% CI: 1.26-3.09) during pregnancy were at a significantly higher risk of CHDs in offspring. Maternal CYP450 genetic polymorphisms at rs1065852 (A/T vs. A/A: OR = 1.53, 95% CI: 1.10-2.14; T/T vs. A/A: OR = 1.57, 95% CI: 1.07-2.31) and rs16947 (G/G vs. C/C: OR = 3.41, 95% CI: 1.82-6.39) were also significantly associated with the risk of CHDs in offspring. Additionally, significant interactions were observed between the CYP450genetic variants and drug use on the development of CHDs.
CONCLUSIONS
In those of Chinese descent, ovulatory drugs, antidepressants, antiabortifacients, and traditional Chinese medicines may be associated with the risk of CHDs in offspring. Maternal CYP450 genes may regulate the effects of maternal drug exposure on fetal heart development.
Adult
;
Cytochrome P-450 Enzyme System/genetics*
;
Female
;
Genotype
;
Heart Defects, Congenital/genetics*
;
Humans
;
Infant, Newborn
;
Polymorphism, Genetic
;
Pregnancy
;
Pregnancy Complications/drug therapy*
6.The effect of maternal HBV DNA levels on HBV intrauterine transmission and fetal distress.
Jing WANG ; Tao Tao YAN ; Ya Li FENG ; Ying Li HE ; Yuan YANG ; Jin Feng LIU ; Nai Juan YAO ; Ya Ge ZHU ; Ying Ren ZHAO ; Tian Yan CHEN
Chinese Journal of Hepatology 2022;30(8):873-878
Aim: To identify the key risk factors of intrauterine hepatitis B virus transmission (HBV) and its effect on the placenta and fetus. Methods: 425 infants born to hepatitis B surface antigen (HBsAg)-positive pregnant women who received combined immunization with hepatitis B immunoglobulin and hepatitis B vaccine between 2009 to 2015 were prospectively enrolled in this study. The intrauterine transmission situation was assessed by dynamic monitoring of infants HBV DNA load and quantitative HBsAg. Univariate and multivariate regression analysis was used to determine the high risk factors for intrauterine transmission. Stratified analysis was used to determine the relationship between maternal HBV DNA load and fetal distress. Transmission electron microscopy was used to observe HBV Effects on placental tissue. Results: HBV intrauterine infection rate was 2.6% (11/425). Multivariate analysis result showed that the maternal HBV DNA load was an independent risk factor for intrauterine infection among infants (P=0.011). Intrauterine infection and distress rate was significantly higher in infants with with maternal HBV DNA>106 IU/ml than those with HBV DNA <106 IU/ml (12.2% vs. 1.8%; χ2=11.275, P=0.006), and (24.4% vs. 16.0%, χ2=3.993, P=0.046). Transmission electron microscopy showed that mitochondrial edema, endoplasmic reticulum expansion and thicker basement membrane were apparent when the maternal HBV DNA>106 IU/ml than that of maternal HBV DNA<106 IU/ml (960 nm vs. 214 nm, Z=-2.782, P=0.005) in the placental tissue. Conclusion: Maternal HBV DNA>106 IU/ml is associated not only with intrauterine infection, but also with increased incidence of intrauterine distress and placental sub-microstructural changes, providing strong clinical and histological evidence for pregnancy avoidance and treatment in this population.
DNA, Viral
;
Female
;
Fetal Distress/drug therapy*
;
Hepatitis B/prevention & control*
;
Hepatitis B Surface Antigens
;
Hepatitis B Vaccines/therapeutic use*
;
Hepatitis B virus/genetics*
;
Humans
;
Immunoglobulins/therapeutic use*
;
Infant
;
Infectious Disease Transmission, Vertical/prevention & control*
;
Placenta
;
Pregnancy
;
Pregnancy Complications, Infectious
7.Research progress on screening of pregnancy-related diseases based on fetal cell free DNA.
Jianan LIU ; Geng AN ; Yanhui LIU
Chinese Journal of Medical Genetics 2021;38(10):1025-1029
Fetal cell free DNA (cfDNA) in maternal blood circulation mainly originates from placental trophoblasts which have dual characteristics of apoptotic cells and the embryo, and can be affected by maternal factors. Pregnancy-related diseases including preeclampsia, gestational diabetes mellitus, preeclampsia, macrosomia and fetal growth restriction can seriously affect maternal health and pregnancy outcome. Early prediction and timely intervention are important means to reduce the risk. Fetal cfDNA and prediction of pregnancy-related diseases have become a hot topicfor current research. This paper reviews the latest progress made in the field.
Cell-Free Nucleic Acids/genetics*
;
Female
;
Fetus
;
Humans
;
Placenta
;
Pregnancy
;
Pregnancy Complications
;
Pregnancy Outcome
8.Pathological variant of FBN2 gene identified in a pedigree affected with congenital contracture arachnodactyly.
Jieqiong WANG ; Yanjie XIA ; Yanan WANG ; Fan YANG ; Xiangdong KONG
Chinese Journal of Medical Genetics 2020;37(5):497-500
OBJECTIVE:
To detect pathological variant in a Chinese pedigree affected with congenital contractural arachnodactyly (CCA).
METHODS:
Next generation sequencing (NGS) was used to scan the whole exome of the proband. Potential variant of the FBN2 gene was also detected in all members of the pedigree and 100 healthy controls by Sanger sequencing. With the determination of the genotype, prenatal diagnosis was carried out by amniotic fluid sampling.
RESULTS:
A c.3528C>A (p.Asn1176Lys) variant was identified in the FBN2 gene of the proband, other patients from this pedigree, as well as the fetus. The same variant was not found among healthy members from this pedigree and the 100 healthy controls.
CONCLUSION
The c.3528C>A (p.Asn1176Lys) variant of the FBN2 gene probably underlies the pathogenesis of CCA in our case. The new variant has enriched pathological spectrum of the FBN2 gene.
Arachnodactyly
;
complications
;
genetics
;
Contracture
;
congenital
;
etiology
;
genetics
;
Exome
;
Female
;
Fibrillin-2
;
genetics
;
Humans
;
Mutation
;
Pedigree
;
Pregnancy
;
Prenatal Diagnosis
9.Postpartum depression: association with genetic polymorphisms of noradrenaline metabolic enzymes and the risk factors.
Jiahui MA ; Zhengdong HUANG ; Saiying WANG ; Shanshan ZHENG ; Kaiming DUAN
Journal of Southern Medical University 2019;39(1):57-62
OBJECTIVE:
To investigate the association of genetic polymorphisms of norepinephrine metabolizing enzymes with postpartum depression and analyze the risk factors for postpartum depression in women following cesarean section.
METHODS:
A total of 591 Chinese woman of Han Nationality undergoing caesarean section were enrolled in this study. The diagnosis of postpartum depression was established for an Edinburgh Postnatal Depression Scale (EPDS) score ≥9. For all the women without antepartum depression, the genotypes of catechol-O-methyltransferase (COMT; at 5 sites including rs2020917 and rs737865) and monoamine oxidase A (rs6323) were determined using Sequenom Mass Array single nucleotide polymorphism (SNP) analysis. We analyzed the contribution of the genetic factors (SNPs, linkage disequilibrium and haplotype) to postpartum depression and performed logistic regression analysis to identify all the potential risk factors for postpartum depression and define the interactions between the genetic and environmental factors.
RESULTS:
The incidence of postpartum depression was 18.1% in this cohort. Univariate analysis suggested that COMT polymorphism at rs2020917 (TT genotype) and rs737865 (GG genotype) were significantly correlated with the occurrence of postpartum depression ( < 0.05). Logistic regression analysis showed that COMT polymorphism at rs2020917 (TT genotype) and rs737865 (GG genotype), severe stress during pregnancy, and domestic violence were the risk factors for postpartum depression ( < 0.05); no obvious interaction was found between the genetic polymorphisms and the environmental factors in the occurrence of postpartum depression.
CONCLUSIONS
The rs2020917TT and rs737865GG genotypes of COMT, stress in pregnancy, and domestic violence are the risk factors for postpartum depression.
Catechol O-Methyltransferase
;
genetics
;
Cesarean Section
;
adverse effects
;
Depression, Postpartum
;
diagnosis
;
enzymology
;
genetics
;
Domestic Violence
;
psychology
;
Female
;
Gene-Environment Interaction
;
Genotype
;
Haplotypes
;
Humans
;
Linkage Disequilibrium
;
Monoamine Oxidase
;
genetics
;
Norepinephrine
;
metabolism
;
Polymorphism, Single Nucleotide
;
Postoperative Complications
;
diagnosis
;
enzymology
;
genetics
;
Pregnancy
;
Pregnancy Complications
;
etiology
;
psychology
;
Risk Factors
;
Stress, Psychological
10.Intrauterine infection affects early growth and neurobehavioral development in neonatal rats.
Ying SHEN ; Yi SUN ; Weizhong GU ; Huimin YU ; Tianming YUAN
Journal of Zhejiang University. Medical sciences 2019;48(1):58-64
To explore the effects of intrauterine infection on early growth and neurobehavioral development in neonatal rats. (E. coli) was inoculated into uterine cervix of pregnant rats with gestation of 15 d to establish the intrauterine infection model, and the effect on the delivery of pregnant rats was observed. The neonatal rat brain tissue was stained with Hematoxylin-Eosin and the cerebral white matter damage was assessed. Immunohistochemical staining and Western blot analysis were performed to evaluate the expression of glial fibrillary acidic protein (GFAP), 2', 3'-cyclic nucleotide 3'-phosphodiesterase (CNPase) and neurofilament (NF) in pup brains. Birth weight and early growth development indices were monitored,and neurobehavioral tests were performed to access the change of neurobehavioral development in neonatal rats. The white blood cell count increased significantly in the uterus and placenta of the pregnant rats after intrauterine E. coli infection and no significant impact was observed on the delivery of pregnant rats. Weak staining and focal rarefaction of cerebral white matter from rats at P7 in intrauterine infection group were observed. The expression of GFAP markedly increased (<0.05) in infection group, while the level of CNPase and NF in pup brains at P7 significantly decreased (<0.05 or <0.01). Compared with control group, the neonatal rats in infection group had lower birth weight and slower weight gain during the suckling period (<0.05 or <0.01), and the completion times of ear opening, eye opening, surface righting, negative geotaxis, acoustic startle and swimming test in infection group were significantly delayed (<0.05 or <0.01). Intrauterine infection in pregnant rats can induce cerebral white matter damage and retardation of early growth and neurobehavioral development in neonatal rats.
Animals
;
Animals, Newborn
;
Behavior, Animal
;
Body Weight
;
Disease Models, Animal
;
Escherichia coli
;
Escherichia coli Infections
;
complications
;
physiopathology
;
Female
;
Glial Fibrillary Acidic Protein
;
genetics
;
Growth Disorders
;
etiology
;
Leukoencephalopathies
;
etiology
;
Pregnancy
;
Pregnancy Complications, Infectious
;
physiopathology
;
Rats
;
Rats, Sprague-Dawley

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