scholarly journals Genetic Polymorphism of rs13306146 Affects α2AAR Expression and Associated With Postpartum Depressive Symptoms in Chinese Women Who Received Cesarean Section

2021 ◽  
Vol 12 ◽  
Author(s):  
Kai Ming Duan ◽  
Chao Fang ◽  
Si Qi Yang ◽  
Shu Ting Yang ◽  
Ji Dong Xiao ◽  
...  

Postpartum depressive symptom (PDS) is a common psychological and mental disorder after giving birth. Our previous studies showing the application of dexmedetomidine, an α2-AR agonist, can significantly improve maternal sleep, as well as relieve and reduce the incidence of PDS. This study investigated the association between α2AAR gene polymorphisms and PDS. A total of 568 cesarean section patients were enrolled; the incidence of PDS is 18.13% (103 with PDS, 465 with non-PDS). The Edinburgh Postpartum Depression Scale score ≥10 was used to diagnose PDS at 42 days after delivery. The single-nucleotide polymorphisms of α2AR were sequenced by pyrosequencing. The effect of rs13306146 A > G polymorphism on α2AR transcription and the regulation of miR-646 on α2AR expression were assessed by dual luciferase reporter assays or gene transfection. Increased stress during pregnancy, poor relationship between mother-in-law and daughter-in-law, spousal relationship, domestic violence, antenatal depression, self-harm ideation, and stressful life events were all associated with increased PDS incidence (p < 0.05). The logistic regression analysis found that the α2AAR rs13306146 polymorphism was associated with PDS after adjusting confounding variables. The transcriptional function of the α2AAR rs13306146 A allele was decreased compared with the G allele, and the α2AAR expression level was correspondingly decreased (p < 0.05), as the strongest binding ability of miR-646 to the α2AAR rs13306146 AA genotype. The effect of α2AAR rs13306146 A > G polymorphism may change the binding ability of miR-646 at the 3′UTR of the α2AAR gene, affecting the expression of α2AAR. This study supports the involvement of the norepinephrine system in the pathogenesis of PDS. Genotypes of α2AAR may be novel and useful biomarkers for PDS.

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Xuan Cai ◽  
Jun Dong ◽  
Teng Lu ◽  
Liqiang Zhi ◽  
Xijing He

Abstract Background Osteoporosis (OP) is a complex bone metabolism disorder characterized by the loss of bone minerals and an increased risk of bone fracture. A recent study reported the relationship of the macrophage erythroblast attacher gene (MAEA) with low bone mineral density in postmenopausal Japanese women. Our study aimed to investigate the association of MAEA with postmenopausal osteoporosis (PMOP) in Han Chinese individuals. Methods A total of 968 unrelated postmenopausal Chinese women comprising 484 patients with PMOP and 484 controls were recruited. Four tag single nucleotide polymorphisms (SNPs) that covered the gene region of MAEA were chosen for genotyping. Single SNP and haplotypic association analyses were performed, and analysis of variance was conducted to test the correlation between blood MAEA protein level and genotypes of associated SNPs. Results SNP rs6815464 was significantly associated with the risk of PMOP. The C allele of rs6815464 was strongly correlated with the decreased risk of PMOP in our study subjects (OR[95% CI]=0.75[0.63-0.89], P=0.0015). Significant differences in MAEA protein blood levels among genotypes of SNP rs6815464 were identified in both the PMOP (F=6.82, P=0.0012) and control groups (F=11.5, P=0.00001). The C allele was positively associated with decreased MAEA protein levels in blood. Conclusion This case-control study on Chinese postmenopausal women suggested an association between SNP rs6815464 of MAEA and PMOP. Further analyses showed that genotypes of SNP rs6815464 were also associated with the blood level of MAEA protein.


2016 ◽  
Vol 40 (1-2) ◽  
pp. 391-399 ◽  
Author(s):  
Bo Wang ◽  
Huan Yang ◽  
Liqin Shen ◽  
Ji Wang ◽  
Wangyang Pu ◽  
...  

Background/Aims: Interferon regulatory factor 1 (IRF-1) has been shown to function as a transcriptional activator or repressor of a variety of target genes. However, its upstream, non-coding RNA-related regulatory capacity remains unknown. In this study, we focus on the miRNA-associated single nucleotide polymorphisms (SNPs) in the 3′untranslated region (UTR) of IRF-1 to further investigate the functional relationship and potential diagnostic value of the SNPs and miRNAs among Chinese gastric cancer (GC) patients. Methods: We performed a case-control study with 819 GC patients and 756 cancer-free controls. Genotyping by realtime PCR assay, cell transfection, and the dual luciferase reporter assay were used in our study, and the 5-year overall survival rate and relapse-free survival rate in different groups were investigated. Results: We found that patients suffering from Helicobacter pylori (Hp) infection were the susceptible population compared to controls. SNP rs56288038 (C/G) in IRF-1 3′UTR was involved in the occurrence of GC by acting as a tumor promoter factor. SNP rs56288038 (C/G) could be up-regulated by miR-502-5p, which caused a down-regulation of IRF-1 in cell lines and decreased apoptosis induced by IFN-γ. Carrying the G genotype was related to significantly low expression of IRF-1 and Hp infection, poor differentiation, big tumor size, invasion depth, as well as the high probability of metastasis, and moreover, the C/G SNP was associated with shorter survival of GC patients with five years of follow-up study. Conclusions: our findings have shown that the SNP rs56288038 (C/G) in IRF-1 3′UTR acted as a promotion factor in GC development through enhancing the regulatory role of miR-502-5p in IRF-1 expression.


PeerJ ◽  
2020 ◽  
Vol 8 ◽  
pp. e8521
Author(s):  
Yingli Fu ◽  
Na Zhou ◽  
Wei Bai ◽  
Yaoyao Sun ◽  
Xin Chen ◽  
...  

Background Schizophrenia (SCZ) is a severely complex psychiatric disorder in which ~80% can be explained by genetic factors. Single nucleotide polymorphisms (SNPs) in calcium channel genes are potential genetic risk factors for a spectrum of psychiatric disorders including SCZ. This study evaluated the association between SNPs in the voltage-gated calcium channel auxiliary subunit alpha2delta 2 gene (CACNA2D2) and SCZ in the Han Chinese population of Northeast China. Methods A total of 761 SCZ patients and 775 healthy controls were involved in this case-control study. Three SNPs (rs3806706, rs45536634 and rs12496815) of CACNA2D2 were genotyped by the MALDI-TOF-MS technology. Genotype distribution and allele frequency differences between cases and controls were tested by Chi-square (χ2) in males and females respectively using SPSS 24.0 software. Linkage disequilibrium and haplotype analyses were conducted using Haploview4.2. The false discovery rate correction was utilized to control for Type I error by R3.2.3. Results There was a significant difference in allele frequencies (χ2 = 9.545, Padj = 0.006) and genotype distributions (χ2 = 9.275, Padj = 0.006) of rs45536634 between female SCZ patients and female healthy controls after adjusting for multiple comparisons. Minor allele A (OR = 1.871, 95% CI [1.251–2.798]) and genotype GA + AA (OR = 1.931, 95% CI [1.259–2.963]) were associated with an increased risk of SCZ. Subjects with haplotype AG consisting of rs45536634 and rs12496815 alleles had a higher risk of SCZ (OR = 1.91, 95% CI [1.26–2.90]) compared those with other haplotypes. Conclusions This study provides evidence that CACNA2D2 polymorphisms may influence the susceptibility to SCZ in Han Chinese women.


2021 ◽  
Vol 9 (1) ◽  
pp. e002287
Author(s):  
Qiulun Zhou ◽  
Ying Wang ◽  
Yuqin Gu ◽  
Jing Li ◽  
Hui Wang ◽  
...  

IntroductionTo investigate associations between genetic variants related to beta-cell (BC) dysfunction or insulin resistance (IR) in type 2 diabetes (T2D) and bile acids (BAs), as well as the risk of gestational diabetes mellitus (GDM).Research design and methodsWe organized a case-control study of 230 women with GDM and 217 without GDM nested in a large prospective cohort of 22 302 Chinese women in Tianjin, China. Two weighted genetic risk scores (GRSs), namely BC-GRS and IR-GRS, were established by combining 39 and 23 single nucleotide polymorphisms known to be associated with BC dysfunction and IR, respectively. Regression and mediation analyses were performed to evaluate the relationship of GRSs with BAs and GDM.ResultsWe found that the BC-GRS was inversely associated with taurodeoxycholic acid (TDCA) after adjustment for confounders (Beta (SE)=−0.177 (0.048); p=2.66×10−4). The BC-GRS was also associated with the risk of GDM (OR (95% CI): 1.40 (1.10 to 1.77); p=0.005), but not mediated by TDCA. Compared with individuals in the low tertile of BC-GRS, the OR for GDM was 2.25 (95% CI 1.26 to 4.01) in the high tertile. An interaction effect of IR-GRS with taurochenodeoxycholic acid (TCDCA) on the risk of GDM was evidenced (p=0.005). Women with high IR-GRS and low concentration of TCDCA had a markedly higher OR of 14.39 (95% CI 1.59 to 130.16; p=0.018), compared with those with low IR-GRS and high TCDCA.ConclusionsGenetic variants related to BC dysfunction and IR in T2D potentially influence BAs at early pregnancy and the development of GDM. The identification of both modifiable and non-modifiable risk factors may facilitate the identification of high-risk individuals to prevent GDM.


Author(s):  
Muhammad Saleem Rana ◽  
Mohammad Asif ◽  
Asif Hanif ◽  
Syed Amir Gilani ◽  
Ume Habiba ◽  
...  

Objectives: To assess the association of perceived social support with postnatal depression among puerperal women of Faisalabad, Pakistan. Methods: It was a case-control study carried out during a period of 18 months (1-1-2019 to 30-06-2020). By using purposive sampling technique 284 postpartum women were enrolled from Allied hospital and Children hospital Faisalabad. The postnatal depression was diagnosed with Edinburg Postnatal Depression Scale (EPDS).The Multidimensional Scale of Perceived Social Support (MSPSS) was used to measure the social support that was perceived by women. Results: According to cut-off score ≥13 on EPDS 37.3% women were found depressed while 62.7% women were found non-depressed. The mean EPDS score ± SD was 10.12 ± 6.27 (min score 0; max score 27). The perceived social support from significant other, family and friends was found as significant predictor of postnatal depression. With one-point increase in global perceived social support, the postnatal depression decreased by 0.1 points on EPDS scale (p = 0.03) among women in normal vaginal delivery group, by 0.2 points in cesarean section group (p <0.001) and the postnatal depression decreased by 0.2 points in total sample (p < 0.001). Conclusion: A poor perceived social support from significant other, family and friends is a significant risk factor for postnatal depression among puerperal women.


F1000Research ◽  
2020 ◽  
Vol 8 ◽  
pp. 1755
Author(s):  
Shunji Suzuki

Background: Maternal mental status has been thought to be affected by the delivery modes. We examined the relation between delivery modes and the mental status of women who delivered at our institute in Japan. Methods: Data were collected from the medical charts of 643 primiparous women without a history of mental disorders who delivered singleton babies and underwent a 1-month postpartum check-up at our institute from September 2018 to June 2019. The maternal mental status was examined based on the scores of the Edinburgh Postnatal Depression Scale (EPDS) and the Mother-Infant Bonding Scale (MIBS). Results: The rate of high scores of the EPDS and the MIBS in women choosing elective cesarean section were higher than in women with vaginal delivery and emergency cesarean section. Conclusion: Mental health care may be necessary for women choosing elective cesarean section.


2015 ◽  
Vol 172 (3) ◽  
pp. 227-233 ◽  
Author(s):  
Rong Ju ◽  
Wei Wu ◽  
Juan Fei ◽  
Yufeng Qin ◽  
Qiuqin Tang ◽  
...  

ObjectiveTo assess whether single nucleotide polymorphisms of HSD17B5 (AKR1C3) (rs1937845 and rs12529) and HSD17B6 (rs898611) are associated with polycystic ovary syndrome (PCOS) in a Chinese population.DesignA case–control study was conducted to investigate the relation between HSD17B5 and HSD17B6 polymorphisms and PCOS.MethodsIn this study, 335 patients with PCOS and 354 controls were recruited. The genotypes of HSD17B5 (rs1937845 and rs12529) and HSD17B6 (rs898611) were detected by the TaqMan method.Results and conclusionsWe found that the genotypic frequencies of the rs1937845 polymorphism were different in subjects with PCOS compared with control, with the CT genotype being more commonly found in patients with PCOS than in controls (P=0.005). We observed a significantly 1.74-fold higher risk of CT genotype in the polymorphism rs1937845 in women with PCOS vs the control group (adjusted odds ratio (OR), 1.74; 95% CI=1.19–2.54; P=0.005). A similar, significant 1.47-fold higher risk (adjusted OR, 1.47; 95% CI=1.07–2.03; P=0.018) was demonstrated for T allele of polymorphism rs1937845 associated with PCOS. In patients with PCOS, the rs12529 (G>C) and rs1937845 (C>T) polymorphisms were strongly associated with the high level of testosterone. The TT carriers of polymorphism rs1937845 had a significantly increased homeostatic model assessment-B% (HOMA-B%) (P=0.045) and that might be associated with the high risk of insulin resistance. However, no significant difference was found in genotype or allele distributions of the polymorphisms rs12529 of HSD17B5 and rs898611 of HSD17B6 between patients with PCOS and controls. Additionally, the two polymorphisms of HSD17B5 are associated with hyperandrogenemia in patients with PCOS. In conclusion, our findings showed a significant statistical association between HSD17B5 rs1937845 and PCOS risk in Chinese women. The CT genotype and T allele frequency are influenced significantly to a higher extent in patients with PCOS than controls. Further studies are needed to confirm the results and find out the exact molecular mechanism of the polymorphism on the risk of hyperandrogenemia and PCOS.


Author(s):  
Richard McCarty

Genome-wide association studies (GWAS) have revolutionized the field of psychiatric genetics by examining genetic variation at millions of single-nucleotide polymorphisms (SNPs) in many thousands of individual genome using microarrays. The sample sizes for these studies range from tens of thousands on up. Results to date from GWAS have called into question the validity of current diagnostic categories in psychiatry. For example, there may be some level of genetic risk that is shared across many psychiatric disorders, with the final symptom clusters of a given disorder being shaped by other genetic, epigenetic, and environmental variables. Research findings on three mental disorders are evaluated to make the case that stressful life events play a crucial role in the etiology of mental disorders. The mental disorders discussed include schizophrenia, bipolar disorder, and depression. These findings set the stage for the remainder of the book.


2019 ◽  
Vol 31 (2) ◽  
pp. 113-120 ◽  
Author(s):  
Raheema Abdul Raheem ◽  
Hui Jun Chih ◽  
Colin William Binns

Objectives: To assess associations between maternal depression and breastfeeding practices in mothers in the Maldives. Design: A prospective cohort study. The validated questionnaires contained information on demographics, breastfeeding initiation, breastfeeding duration, and the Edinburgh Postnatal Depression Scale. Logistic regression analyses were used to assess association between Edinburgh Postnatal Depression Scale score and breastfeeding practices while adjusting for lifestyle determinants. Cox regression was done to measure the association between maternal depression and breastfeeding duration. Settings: Antenatal clinic at Indira Gandhi Memorial and ADK Hospitals in Male’, Maldives. Subjects: A total of 458 mothers from the antennal clinics were interviewed at 36 weeks of gestation and again at 1, 3, and 6 months after birth. Results: Antenatal depression at 36 weeks of gestation was associated with late initiation of breastfeeding (adjusted odds ratio = 3.0, 95% confidence interval = 1.3-6.8). Postnatal depression was associated with shorter duration of exclusive, full, and any breastfeeding ( P < .001). Conclusion. Depression is negatively associated with breastfeeding practices. There is a need to manage antenatal postnatal depression in mothers in order to encourage them to initiate breastfeeding earlier and to breastfeed for longer.


2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Elviira Porthan ◽  
Matti Lindberg ◽  
Eeva Ekholm ◽  
Noora M. Scheinin ◽  
Linnea Karlsson ◽  
...  

Abstract Background This study sought to investigate if parental divorce in childhood increases the risk for depressive symptoms in pregnancy. Methods Women were recruited during their ultrasound screening in gestational week (gwk) 12. The final study sample consisted of 2,899 pregnant women. Questionnaires (including the Edinburgh Postnatal Depression Scale) were completed at three measurement points (gwk 14, 24 and 34). Prenatal depressive symptoms were defined as Edinburgh Postnatal Depression Scale score ≥ 13. Parental divorce and other stressful life events in childhood were assessed at gwk 14. Parental divorce was defined as separation of parents who were married or cohabiting. Questionnaire data was supplemented with data from Statistics Finland and the Finnish Medical Birth Register. Results Parental divorce in childhood increased the risk for depressive symptoms during pregnancy (OR 1.47; 95% CI 1.02–2.13), but the connection was no longer significant after adjusting for socioeconomic status, family conflicts and witnessing domestic violence in the childhood family (OR 0.80; 95% CI 0.54–1.18). Conclusions Parental divorce alone does not predict depressive symptoms during pregnancy.


Sign in / Sign up

Export Citation Format

Share Document