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1.
Article in Chinese | MEDLINE | ID: mdl-38433693

ABSTRACT

Objective:To study the relationship between children's birth weight and obstructive sleep apnea(OSA). Methods:The sleep data and birth information of children who underwent polysomnography in the Department of Otorhinolaryngology-Head and Neck Surgery of Henan Children's Hospital from October 2020 to July 2022 were retrospectively analyzed. The data of OSA detection rate, OSA severity, sleep structure and respiratory parameters in different birth weight groups were analyzed. Results:A total of 2 778 children met the inclusion criteria, including 1 833 males and 945 females. According to birth weight, the selected children were divided into three groups: 122 small for gestational age(SGA) group, 2 313 appropriate for gestational age(AGA), and 343 large for gestational age(LGA) group. There was no significant difference in age between different groups(P=0.061). In each group, boys are significantly more numerous than girls(P=0.001). The difference in current body mass index(BMI) between groups was statistically significant: the current BMI was higher in the LGA group(17.51±4.01, P<0.001). The severity of OSA was different in different birth weight groups(P=0.037). There was a strong positive correlation between the severity of OSA and birth weight(r=0.992). Children in the SGA group had shorter rapid eye movement(REM) sleep period(19.00[15.18, 23.33], P=0.012), higher obstructive apnea-hypopnea index(OAHI) values(1.75[0.60, 5.13], P=0.019), and had lower central apnea hypopnea index(CAHI) values(0.10[0.00, 0.50], P=0.020). There were no significant differences in sleep structure and respiratory parameters between the LGA group and the AGA group. Multiple regression analysis of the factors affecting the OAHI index showed that the OAHI index of boys was higher than that of girls(95%CI 1.311-2.096, P<0.001), and age was negatively correlated with the OAHI index(r=-0.105, 95%CI 0.856-0.946, P<0.001), current BMI and OAHI index were positively correlated(r=0.037, 95%CI 1.010-1.065, P=0.007). LGA was positively correlated with OAHI index(r=0.346, 95%CI 1.039-1.921, P=0.027), and the correlation between LGA and OAHI(r=0.346) was higher than that between SGA and OAHI(r=0.340). Conclusion:There was no significant difference in the incidence of OSA in children with different birth weight groups, but the OSA severity of LGA group was higher. Gender, age, BMI index and large for gestational age were the influencing factors for the occurrence of OSA in children, which should be paid more attention to in clinical practice.


Subject(s)
Sleep Apnea, Obstructive , Male , Child , Female , Humans , Birth Weight , Retrospective Studies , Sleep , Body Mass Index
2.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 31(5): 1309-1314, 2023 Oct.
Article in Chinese | MEDLINE | ID: mdl-37846677

ABSTRACT

OBJECTIVE: To detect the expression level of HK2 gene in the bone marrow of newly diagnosed patients with acute myeloid leukemia (AML) and investigate its influence on the clinical characteristics and prognosis. METHODS: The expression level of HK2 gene in the bone marrow of 90 newly diagnosed patients with AML that accompanying clinical characteristics and survival status were detected by RT-qPCR, and compared with 18 allogeneic hematopoietic stem cell transplantation (allo-HSCT) donors. The Chi-square test, Kaplan-Meier survival analysis, and Cox proportional hazards regression model were used to analyze the correlation of HK2 expression level with clinical characteristics and prognosis. RESULTS: Compared with allo-HSCT donors, the HK2 expression was significantly increased in newly diagnosed AML patients (P <0.01). Compared with patients with total response (OR, complete response + complete response with incomplete hematologic recovery) after 2 courses of induction chemotherapy, the expression of HK2 in patients without OR was significantly increased (P <0.05). There was a significant difference in the relative expression of HK2 between patients with and without OR after 2 courses of induction therapy (P <0.001). The median survival time of patients with high expression of HK2 was significantly shorter than that of patients with low expression of HK2 (P <0.05). The multivariate Cox proportional hazards regression analysis showed that prognostic stratification, the expression level of HK2, and whether two courses of induction therapy achieved OR were independent factors affecting the prognosis of AML patients (P <0.05). CONCLUSIONS: Compared with allo-HSCT donors, the expression level of HK2 gene is increased in the bone marrow of newly diagnosed AML patients. The prognosis of patients with high expression of HK2 is poor. The expression level of HK2 is an independent factor affecting the prognosis of AML patients.


Subject(s)
Hematopoietic Stem Cell Transplantation , Leukemia, Myeloid, Acute , Humans , Bone Marrow , Hematopoietic Stem Cell Transplantation/adverse effects , Leukemia, Myeloid, Acute/therapy , Prognosis , Retrospective Studies , Transplantation, Homologous/adverse effects
3.
Foods ; 12(10)2023 May 09.
Article in English | MEDLINE | ID: mdl-37238749

ABSTRACT

The distinctive assembly behaviors of lysozyme (Lys) feature prominently in food, materials, biomedicine, and other fields and have intrigued many scholars. Although our previous work suggested that reduced glutathione (GSH) could induce lysozyme to form interfacial films at the air/water interface, the underlying mechanism is still obscure. In the present study, the effects of GSH on the disulfide bond and protein conformation of lysozyme were investigated by fluorescence spectroscopy, circular dichroism spectroscopy, and infrared spectroscopy. The findings demonstrated that GSH was able to break the disulfide bond in lysozyme molecules through the sulfhydryl/disulfide bond exchange reaction, thereby unraveling the lysozyme. The ß-sheet structure of lysozyme expanded significantly, while the contents of α-helix and ß-turn decreased. Furthermore, the interfacial tension and morphology analysis supported that the unfolded lysozyme tended to arrange macroscopic interfacial films at the air/water interface. It was found that pH and GSH concentrations had an impact on the aforementioned processes, with higher pH or GSH levels having a positive effect. This paper on the exploration of the mechanism of GSH-induced lysozyme interface assembly and the development of lysozyme-based green coatings has better instructive significance.

4.
World J Gastrointest Oncol ; 15(3): 389-404, 2023 Mar 15.
Article in English | MEDLINE | ID: mdl-37009320

ABSTRACT

Chronic inflammation, through a variety of mechanisms, plays a key role in the occurrence and development of digestive system malignant tumors (DSMTs). In this study, we feature and provide a comprehensive understanding of DSMT prevention strategies based on preventing or controlling chronic inflammation. The development and evaluation of cancer prevention strategies is a longstanding process. Cancer prevention, especially in the early stage of life, should be emphasized throughout the whole life course. Issues such as the time interval for colon cancer screening, the development of direct-acting antiviral drugs for liver cancer, and the Helicobacter pylori vaccine all need to be explored in long-term, large-scale experiments in the future.

5.
Ital J Pediatr ; 48(1): 188, 2022 Nov 26.
Article in English | MEDLINE | ID: mdl-36435902

ABSTRACT

BACKGROUND: To investigate the association between maternal and neonatal exposure to the relevant influencing factors and risk of moderate or severe hypoxic ischemic encephalopathy (HIE), and the possible interactions in the Chinese population. METHODS: A cross-sectional study comprising 228 neonates from Henan Children's Hospital during the five-year period 2015-2020 in China was conducted. All neonatal basic demographic information and clinical records were documented from the neonatal HIE database. Comparisons between mild HIE and moderate or severe HIE were conducted with the t-test or Wilcoxon rank-sum test for continuous variables and the Chi-square test for categorical variables. Unconditional multiple logistic regression models were used to generate the odds ratios(ORs) and 95% confidence intervals(CIs). In addition, we also used an additive model to test for possible biological interactions among the factors. RESULTS: Of the 228 neonates, the males had a statistically significantly higher frequency compared with the females between the two groups (P = 0.030). Trend analysis results found that with the decreased of the neonatal birth weight, the detection rates of moderate or severe HIE in males and females were gradually increased (Ptrend < 0.05). The detection of moderate or severe HIE in males and females increased with the decreased of neonatal gestational age at birth(Ptrend < 0.05). However, no interaction was detected between neonatal birth weight and gestational age at birth based on the additive model, the Relative Excess Risk of Interaction and 95% CI was 0.821(-0.046,1.687). The adjusted multiple logistic regression model showed that low birth weight(ORadj:1.965, 95%CI:1.086-4.127),premature infant(ORadj:1.557, 95%CI:1.589-4.862),1-min Apgar's score < 7(ORadj:5.618, 95%CI:3.724-7.353),intrauterine distress(ORadj:4.916, 95%CI:3.431-7.398),amniotic fluid contamination (ORadj:3.965, 95%CI:2.153-5.782) significantly increased the risk of neonatal moderate or severe HIE. CONCLUSION: Neonates with low birth weight, premature infant,1-min Apgar's score < 7, intrauterine distress, amniotic fluid contamination are risk factors for moderate or severe HIE. Notably, we found no biological interaction between risk factors based on the additive model, these findings may help to inform prevention strategies, as this may effectively reduce the incidence of neonatal moderate or severe HIE.


Subject(s)
Hypoxia-Ischemia, Brain , Infant, Newborn , Male , Female , Child , Humans , Hypoxia-Ischemia, Brain/epidemiology , Hypoxia-Ischemia, Brain/etiology , Hypoxia-Ischemia, Brain/diagnosis , Cross-Sectional Studies , Birth Weight , Risk Factors , Incidence
6.
BMC Public Health ; 22(1): 1650, 2022 08 31.
Article in English | MEDLINE | ID: mdl-36045412

ABSTRACT

BACKGROUND: To investigate the associations between overweight, obesity and sleep duration and related lifestyle behaviors in children and adolescents at different gender and educational stages. METHODS: A cross-sectional study comprising 18723 children and adolescents with a stratified cluster sampling method of Henan Province was conducted in 2019. A self-reported questionnaire was used to collect the information about demographic characteristics as well as sleep and lifestyle behaviors. Anthropometric measurements (height and weight) were taken and body mass index was computered as an indicator of overweight and obesity. The Chi-square test, one-way analysis of variance and multiple logistic regression were used to data analysis. RESULTS: Among the respondents, 12657(67.6%) were with normal weight, 3711(19.8%) were overweight and 2355(12.6%) were obesity. The average age of the participants was 12.6 years old. The proportion of overweight and obesity in the 10191 boys was 18.7% and 14.2% respectively. The proportion of overweight and obesity in the 8532 girls was 21.2% and 10.6% respectively. In trend analyses, sleep duration at different gender found with the decreased of the sleep duration, the proportions of overweight/obesity in boys and girls were gradually increased (Ptrend<0.05). In the adjusted logistic regression models, the results showed stratified by gender, compared with the recommended sleep duration group, students with very short sleep duration and short sleep duration showed an increased ORadj of 2.56 and 2.13 in boys, 2.34 and 2.09 in girls respectively. According to different educational stages, those in very short sleep duration and short sleep duration showed an increased ORadj of 2.15 and 1.69 in primary school, 2.26 and 1.58 in middle school, 2.23 and 1.51 in high school respectively. CONCLUSIONS: Children and adolescents with very short sleep duration and short sleep duration may increase the risk of overweight/obesity, the association differed based on the gender-specific and educational stages-specific. Gender and educational stages should be regarded as specific characteristics for the effects on overweight/obesity in Henan Province.


Subject(s)
Obesity , Overweight , Adolescent , Body Mass Index , Child , Cross-Sectional Studies , Female , Humans , Life Style , Male , Overweight/epidemiology , Sleep
7.
Int J Mol Sci ; 23(16)2022 Aug 10.
Article in English | MEDLINE | ID: mdl-36012176

ABSTRACT

Chronic obstructive pulmonary disease (COPD) is a major cause of morbidity and mortality in chronic lung disease patients throughout the world. Mesenchymal stem cells (MSCs) have been shown to regulate immunomodulatory, anti-inflammatory, and regenerative responses. However, the effects of human-umbilical-cord-derived mesenchymal stem cells (hUC-MSCs) on the lung pathophysiology of COPD remain unclear. We aimed to investigate the role of hUC-MSCs in emphysema severity and Yes-associated protein (Yap) phosphorylation (p-Yap) in a porcine-pancreatic-elastase (PPE)-induced emphysema model. We observed that the emphysema percentages (normalized to the total lung volume) measured by chest computed tomography (CT) and exercise oxygen desaturation were significantly reduced by hUC-MSCs at 107 cells/kg body weight (BW) via intravenous administration in emphysematous mice (p < 0.05). Consistently, the emphysema index, as assessed by the mean linear intercept (MLI), significantly decreased with hUC-MSC administration at 3 × 106 and 107 cells/kg BW (p < 0.05). Changes in the lymphocytes, monocytes, and splenic cluster of differentiation 4-positive (CD4+) lymphocytes by PPE were significantly reversed by hUC-MSC administration in emphysematous mice (p < 0.05). An increasing neutrophil/lymphocyte ratio was reduced by hUC-MSCs at 3 × 106 and 107 cells/kg BW (p < 0.05). The higher levels of tumor necrosis factor (TNF)-α, keratinocyte chemoattractant (KC), and lactate dehydrogenase (LDH) in bronchoalveolar lavage fluid (BALF) were significantly decreased by hUC-MSC administration (p < 0.05). A decreasing p-Yap/Yap ratio in type II alveolar epithelial cells (AECII) of mice with PPE-induced emphysema was significantly increased by hUC-MSCs (p < 0.05). In conclusion, the administration of hUC-MSCs improved multiple pathophysiological features of mice with PPE-induced emphysema. The effectiveness of the treatment of pulmonary emphysema with hUC-MSCs provides an essential and significant foundation for future clinical studies of MSCs in COPD patients.


Subject(s)
Emphysema , Mesenchymal Stem Cell Transplantation , Mesenchymal Stem Cells , Pulmonary Disease, Chronic Obstructive , Pulmonary Emphysema , Animals , Emphysema/metabolism , Humans , Mesenchymal Stem Cells/metabolism , Mice , Pancreatic Elastase/metabolism , Pulmonary Disease, Chronic Obstructive/pathology , Pulmonary Emphysema/metabolism , Pulmonary Emphysema/therapy , Swine , Umbilical Cord
8.
Front Pediatr ; 10: 828300, 2022.
Article in English | MEDLINE | ID: mdl-35664878

ABSTRACT

Objective: This study aimed to examine the prevalence and the related risk factors of congenital heart disease (CHD) in children with different birth weights in China and the relationship between the subtypes of CHD and birth weight (BW). Methods: This study conducted a cross-sectional survey on the data collected in the children's congenital heart disease database (CHDD) established in China. This database contained data from one Grade A, Level III Children's Public Hospital in Zhengzhou, Henan. The study included all the children and their parents in the database from 2014 to 2020 as the study subjects, and the missing data were processed by means of imputation. Diagnoses of CHD were coded using the International Classification of Diseases version 10 (ICD-10), and subtypes were classified by the codes Q20 to Q26. We reported the prevalence of CHD based on birth weight and gestational age and analyzed the related risk factors for children with CHD in different birth weight groups and factors for children of the same birth weight groups between the CHD groups and the non-CHD groups. The generalized linear model was used to assess the association between the subtypes of CHD and BW by establishing three adjusting models, and the data were stratified for further analysis by urban-rural and infant gender. Results: A total of 42,814 children were identified as having CHD among 5,071,799 live children; the overall prevalence of CHD was 8.44 per 1,000 live births during 2014-2020; and the three subtypes with the highest prevalence of CHD were atrial septal defect (ASD) (2.75‰), ventricular septal defect (VSD) (2.57‰), and patent foramen ovale (PFO) (1.12‰). The prevalence of CHD was 18.87‰ in the group with BW <1,500 g, 12.84‰ in the group with BW 1,500-2,500 g, 8.24‰ in the group with BW 2,500-4,000 g, and 4.80‰ in the group with BW ≥4,000 g. The prevalence of CHD was 16.62‰ in the small for gestational age (SGA) group, 6.99‰ in the appropriate for gestational age (AGA) group, and 6.40‰ in the larger for gestational age (LGA) group. Parental factors such as drinking, smoking, viral infections, peri-pregnancy exposure to radioactive substances, low family monthly expenditure, and low Apgar scores at 1 and 5 min were related to the increased risk of CHD in the offspring. Parental supplementation of folic acid and exercise during the peri-pregnancy period could reduce the risk of CHD in the offspring. The results of Model 3 adjusting for confounding variables showed that infants with ASD had a birth weight 461 g lower (95% CI: -1,085, -128), infants with VSD had a birth weight 426 g lower (95% CI: -932, -120), infants with tetralogy of Fallot (TOF) had a birth weight 532 g lower (95% CI: -987, -168), and without classification, infants with CHD had a birth weight 973 g lower (95% CI: -1,502, -204). Conclusion: In very low birth weight (VLBW) and low birth weight (LBW) infants, CHDs are more prevalent than in the general live-born population. Moreover, some peri-pregnancy factors of parents are closely related to the occurrence of CHD in offspring; different types of heart defects can lead to LBW. Therefore, if the fetus is found to have a heart defect during the prenatal examination, the mother should pay more attention to maintaining weight and ensuring that the fetus is within the normal weight range, thereby increasing the postpartum survival rate, reducing complications, and promoting children's health.

9.
Chem Commun (Camb) ; 57(55): 6780-6783, 2021 Jul 14.
Article in English | MEDLINE | ID: mdl-34137393

ABSTRACT

We combined a microporous polymer backbone with an organic redox-active dopant to construct a reversible electrode system based on the conversion-(de)incorporation behaviour of the dopant. The correspondence between the reversible conversion-(de)incorporation mechanism of the dopant and the electrochemical performance of the designed electrode system was established by electrochemical quartz crystal microbalance and in situ Fourier transform infrared spectroscopy.

10.
Minerva Urol Nefrol ; 72(2): 115-122, 2020 Apr.
Article in English | MEDLINE | ID: mdl-30421591

ABSTRACT

INTRODUCTION: Little is known about small cell carcinoma of the upper urinary tract (UUT-SCC), the aim of this study is to identify the risk factors in relation to survival of patients with UUT-SCC. EVIDENCE ACQUISITION: Literature search on UUT-SCC was performed in databases including MEDLINE, EMBASE, Wangfang, and CNKI. Studies were eligible for inclusion if outcomes of patients with histopathologically confirmed UUT-SCC were reported. The relevant data on clinic, pathology, and therapy were collected. Progress survival was evaluated using the Cox regression model with the robust sandwich estimates of the covariance matrix. EVIDENCE SYNTHESIS: There were 55 eligible publications identified, contributing 76 patients in total. The median of overall survival (OS) was 14 months. In univariable analyses, pathological stage and platinum-based chemotherapy regimen were associated with OS (pT3-pT4 versus pT1-pT2, HR=3.228, P=0.005; other chemotherapies versus platinum-based, HR=6.249, P=0.035). The median of cancer-specific survival (CSS) was 15 months. In univariable analyses, pathological stage and platinum-based chemotherapy regimen were associated with CCS (pT3-pT4 versus pT1-pT2, HR=3.332, P=0.004; non-platinum based versus platinum-based, HR=7.784, P=0.025). CONCLUSIONS: In multivariable analyses, no variables were associated with OS and CSS. UUT-SCC is a rare tumor characterized by an aggressive clinical course. Pathological stage and platinum-based chemotherapy regimen are the most important factors related to OS and CSS.


Subject(s)
Carcinoma, Small Cell/therapy , Urologic Neoplasms/therapy , Antineoplastic Agents/therapeutic use , Carcinoma, Small Cell/drug therapy , Carcinoma, Small Cell/pathology , Disease Progression , Humans , Organoplatinum Compounds/therapeutic use , Survival Analysis , Urologic Neoplasms/drug therapy , Urologic Neoplasms/pathology
11.
Behav Brain Res ; 363: 126-134, 2019 05 02.
Article in English | MEDLINE | ID: mdl-30707907

ABSTRACT

To explore the associations between stress response genes and attention deficit hyperactivity disorder (ADHD) in children, we conducted a case-control study consisting of 406 newly diagnosed ADHD cases and 432 controls in Wuhan, China. We genotyped the candidate genes, nuclear receptor subfamily 3 group C member 1(NR3C1) and solute carrier family 6 member 4(SLC6A4), using the Sequenom MassARRAY technology. After correction by Bonferroni (α' = 0.05/6 = 0.008), the rs6191 SNP was found to be associated with a reduced risk of ADHD in the dominant model (OR = 0.564, 95% CI = 0.389-0.819, P = 0.003) while the rs25531 SNP was associated with an increased risk of ADHD in the multiplicative model (OR = 1.380, 95% CI = 1.111-1.714, P = 0.004). Additionally, both the rs6191 and rs25531 SNPs were significantly associated with the attention deficit factor (P = 0.006, P = 0.003, respectively) but not with the hyperactivity/impulsivity factor in the Swanson, Nolan and Pelham-IV Questionnaire (SNAP-IV) scale. Furthermore, we found that these two SNPs were significantly associated with pure ADHD, and not affected by the comorbidities (P = 0.001, P = 0.007, respectively). Besides, there was an interaction between these two SNPs. This study demonstrated the role of NR3C1 and SLC6A4 polymorphisms in ADHD, yet independent replication of the findings of this study in multi-center and multi-stage studies with large samples is warranted in the future.


Subject(s)
Attention Deficit Disorder with Hyperactivity/genetics , Receptors, Glucocorticoid/genetics , Serotonin Plasma Membrane Transport Proteins/genetics , Adolescent , Asian People/genetics , Attention Deficit Disorder with Hyperactivity/physiopathology , Case-Control Studies , Child , China , Female , Genetic Association Studies , Genotype , Humans , Male , Polymorphism, Single Nucleotide/genetics , Receptors, Glucocorticoid/metabolism , Serotonin Plasma Membrane Transport Proteins/metabolism , Stress, Physiological/genetics
12.
Eur Child Adolesc Psychiatry ; 28(6): 861-873, 2019 Jun.
Article in English | MEDLINE | ID: mdl-30406846

ABSTRACT

Polymorphisms in latrophilin 3 (LPHN3) were recently reported to be associated with attention-deficit/hyperactivity disorder (ADHD), and subsequently other researchers tried to replicate the findings in different populations. This study was aimed to confirm the role of the LPHN3 in ADHD and explore the potential interactions with environmental risk factors in Chinese Han population. We examined the association of LPHN3 with ADHD in a population of 473 ADHD children and 585 controls. As a supplement of ADHD diagnosis, Conners Parent Symptom Questionnaire (PSQ) was used to evaluate ADHD symptoms. Blood lead levels (BLLs) were measured by atomic absorption spectrophotometry and other potential environmental risk factors were determined via a questionnaire filled out by the parents. Finally, after validation in an independent sample (284 cases and 390 controls), we observed significant associations between LPHN3 variants rs1868790 and ADHD risk in combined stage within codominant model [TA/AA: OR (95% CI) = 1.636 (1.325-2.021)], dominant model [OR (95% CI) = 1.573 (1.288-1.922)], and additive model [OR (95% CI) = 1.535 (1.266-1.862)]. Furthermore, rs1868790 significantly interacted with BLLs and maternal stress to modify ADHD susceptibility (P < 0.05), and rs1868790 was found to be related with ADHD symptoms (P < 0.05). Expression quantitative trait loci analysis further indicated that rs1868790 took part in the regulation of LPHN3 gene expression. As the first study to comprehensively explore the role of LPHN3 in ADHD in Chinese children, our research suggests that LPHN3 gene has a significant effect on the ADHD in a Chinese population.


Subject(s)
Asian People/genetics , Attention Deficit Disorder with Hyperactivity/genetics , Environmental Exposure/adverse effects , Gene-Environment Interaction , Genetic Association Studies/methods , Receptors, G-Protein-Coupled/genetics , Receptors, Peptide/genetics , Adolescent , Attention Deficit Disorder with Hyperactivity/blood , Attention Deficit Disorder with Hyperactivity/diagnosis , Attention Deficit Disorder with Hyperactivity/epidemiology , Case-Control Studies , Child , Female , Humans , Lead/blood , Male , Polymorphism, Single Nucleotide/genetics
13.
Curr Med Sci ; 38(3): 538-551, 2018 Jun.
Article in English | MEDLINE | ID: mdl-30074224

ABSTRACT

Attention deficit hyperactivity disorder (ADHD) is one of the most common mental disorders in childhood, with a high heritability about 60% to 90%. Serotonin is a monoamine neurotransmitter. Numerous studies have reported the association between the serotonin receptor family (5-HTR) gene polymorphisms and ADHD, but the results are still controversial. In this study, we conducted a meta-analysis of the association between 5-HTR1B, 5-HTR2A, and 5-HTR2C genetic variants and ADHD. The results showed that the 861G allele of 5-HTR1B SNP rs6296 could significantly increase the risk of ADHD (C)R=1.09, 95% CI: 1.01-1.18); the 5-HTR2C gene rs518147 (OR=1.69, 95% CI: 1.38-2.07) and rs3813929 (OR = 1.57, 95% CI: 1.25-1.97) were all associated with the risk of ADHD. In addition, we also carried on a casecontrol study to explore the relevance between potential candidate genes 5-HTR1A, 5-HTR1E, 5-HTR3A and ADHD. The results indicated that 5-HTR1A rs6295 genotype (CC+CG vs. GG OR=2.00, 95% CI: 1.23-3.27) and allele (OR=1.77, 95% CI: 1.16-2.72) models were statistically significantly different between case group and control group. This study is the first comprehensive exploration and summary of the association between serotonin receptor family genetic variations and ADHD, and it also provides more evidence for the etiology of ADHD.


Subject(s)
Attention Deficit Disorder with Hyperactivity/genetics , Genetic Association Studies , Genetic Predisposition to Disease , Receptors, Serotonin/genetics , Humans , Odds Ratio , Polymorphism, Single Nucleotide/genetics , Risk Factors
14.
Article in English | MEDLINE | ID: mdl-29097255

ABSTRACT

Attention-deficit/hyperactivity disorder (ADHD) is a complicated neurodevelopmental disorder with high heritability. This study explores the association of PIK3CG gene single nucleotide polymorphisms (rs1129293, rs12536620, rs12667819, rs17847825, rs2230460) with ADHD in children and the relation of interaction between SNPs and environmental factors, including blood lead levels (BLLs) and feeding style. A case-control study was conducted with children aged 6-18years old, consisting of 389 children newly diagnosed with ADHD via the DSM-IV at the Wuhan Women and Children Medical Care Center, and 393 control participants were healthy children for physical examination during the same period. All participants were tested using the Chinese Wechsler Intelligence Scale for Children and Parent Symptom Questionnaire (PSQ). Furthermore, a self-designed questionnaire was used to investigate the general situation and related environmental factors, and the BLLs were measured by atomic absorption spectrophotometry. The genotyping was performed using Sequenom MassArray. In our study, PIK3CG gene rs12667819 was consistently shown to be associated with ADHD risk in dominant model (OR=1.656, 95% CI=1.229-2.232), ADHD-I type (OR=2.278, 95% CI=1.666-4.632), and symptom scores. Moreover, rs12536620 has been observed to be related to ADHD-C type and symptom scores. Intriguingly, gene-environmental interactions analysis consistently revealed the potential interactions of rs12667819 collaborating with blood lead (Pmul=0.045) and feeding style (Pmul=0.041) to modify ADHD risk. Expression quantitative trait loci analysis suggested that rs12667819 may mediate PIK3CG gene expression. Therefore, our results suggest that selected PIK3CG gene variants may have a significant effect on ADHD risk.


Subject(s)
Attention Deficit Disorder with Hyperactivity/genetics , Class Ib Phosphatidylinositol 3-Kinase/genetics , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide , Adolescent , Attention Deficit Disorder with Hyperactivity/physiopathology , Breast Feeding , Case-Control Studies , Child , Female , Gene-Environment Interaction , Genetic Association Studies , Genotyping Techniques , Humans , Lead/blood , Male , Neuropsychological Tests , Quantitative Trait Loci , Spectrophotometry, Atomic , Surveys and Questionnaires
15.
PLoS One ; 12(11): e0188678, 2017.
Article in English | MEDLINE | ID: mdl-29176790

ABSTRACT

Attention-deficit/hyperactivity disorder (ADHD) is an early onset childhood neurodevelopmental disorder with high heritability. A number of genetic risk factors and environment factors have been implicated in the pathogenesis of ADHD. Genes encoding for subtypes of voltage-dependent K channels (Kv) and accessory proteins to these channels have been identified in genome-wide association studies (GWAS) of ADHD. We conducted a two-stage case-control study to investigate the associations between five key genes (KChIP4, KChIP1, DPP10, FHIT, and KCNC1) and the risk of developing ADHD. In the discovery stage comprising 256 cases and 372 controls, KChIP1 rs1541665 and FHIT rs3772475 were identified; they were further genotyped in the validation stage containing 328cases and 431 controls.KChIP1 rs1541665 showed significant association with a risk of ADHD at both stages, with CC vs TT odds ratio (OR) = 1.961, 95% confidence interval (CI) = 1.366-2.497, in combined analyses (P-FDR = 0.007). Moreover, we also found rs1541665 involvement in ADHD-I subtype (OR (95% CI) = 2.341(1.713, 3.282), and Hyperactive index score (P = 0.005) in combined samples.Intriguingly, gene-environmental interactions analysis consistently revealed the potential interactionsof rs1541665 collaboratingwith maternal stress pregnancy (Pmul = 0.021) and blood lead (Padd = 0.017) to modify ADHD risk. In conclusion, the current study provides evidence that genetic variants of Kv accessory proteins may contribute to the susceptibility of ADHD.Further studies with different ethnicitiesare warranted to produce definitive conclusions.


Subject(s)
Attention Deficit Disorder with Hyperactivity/genetics , Genetic Predisposition to Disease , Kv Channel-Interacting Proteins/genetics , Polymorphism, Single Nucleotide/genetics , Child , Female , Gene-Environment Interaction , Genome-Wide Association Study , Humans , Male , Risk Factors , Surveys and Questionnaires
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