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1.
BMC Genomics ; 25(1): 590, 2024 Jun 12.
Article in English | MEDLINE | ID: mdl-38867151

ABSTRACT

BACKGROUND: The association between Apolipoprotein A5 (APOA5) genetic polymorphisms and susceptibility to metabolic syndrome (MetS) has been established by many studies, but there have been conflicting results from the literature. We performed a meta-analysis of observational studies to evaluate the association between APOA5 gene polymorphisms and the prevalence of MetS. METHODS: PubMed, Web of Science, Embase, and Scopus were searched up to April 2024. The random effects model was used to estimate the odds ratios (ORs) and 95% confidence intervals (CI) of the association between APOA5 gene polymorphisms and the prevalence of MetS development. The potential sources of heterogeneity were evaluated by subgroup analyses and sensitivity analyses. RESULTS: A total of 30 studies with 54,986 subjects (25,341 MetS cases and 29,645 healthy controls) were included. The presence of rs662799 and rs651821 polymorphisms is associated with an approximately 1.5-fold higher likelihood of MetS prevalence (OR = 1.42, 95% CI: 1.32, 1.53, p < 0.001; I2 = 67.1%; P-heterogeneity < 0.001; and OR = 1.50, 95% CI: 1.36-1.65, p < 0.001), respectively. MetS is also more prevalent in individuals with the genetic variants rs3135506 and rs2075291. There was no evidence of a connection with rs126317. CONCLUSION: The present findings suggest that polymorphisms located in the promoter and coding regions of the APOA5 gene are associated with an increased prevalence of MetS in the adult population. Identifying individuals with these genetic variations could lead to early disease detection and the implementation of preventive strategies to reduce the risk of MetS and its related health issues. However, because the sample size was small and there was evidence of significant heterogeneity for some APOA5 gene polymorphisms, these results need to be confirmed by more large-scale and well-designed studies.


Subject(s)
Apolipoprotein A-V , Genetic Predisposition to Disease , Metabolic Syndrome , Polymorphism, Single Nucleotide , Metabolic Syndrome/genetics , Metabolic Syndrome/epidemiology , Apolipoprotein A-V/genetics , Humans , Odds Ratio
2.
Cardiovasc Diabetol ; 23(1): 214, 2024 Jun 21.
Article in English | MEDLINE | ID: mdl-38907271

ABSTRACT

BACKGROUND: Various surrogate markers of insulin resistance have been developed, capable of predicting coronary artery disease (CAD) without the need to detect serum insulin. For accurate prediction, they depend only on glucose and lipid profiles, as well as anthropometric features. However, there is still no agreement on the most suitable one for predicting CAD. METHODS: We followed a cohort of 2,000 individuals, ranging in age from 20 to 74, for a duration of 9.9 years. We utilized multivariate Cox proportional hazard models to investigate the association between TyG-index, TyG-BMI, TyG-WC, TG/HDL, plus METS-IR and the occurrence of CAD. The receiver operating curve (ROC) was employed to compare the predictive efficacy of these indices and their corresponding cutoff values for predicting CAD. We also used three distinct embedded feature selection methods: LASSO, Random Forest feature selection, and the Boruta algorithm, to evaluate and compare surrogate markers of insulin resistance in predicting CAD. In addition, we utilized the ceteris paribus profile on the Random Forest model to illustrate how the model's predictive performance is affected by variations in individual surrogate markers, while keeping all other factors consistent in a diagram. RESULTS: The TyG-index was the only surrogate marker of insulin resistance that demonstrated an association with CAD in fully adjusted model (HR: 2.54, CI: 1.34-4.81). The association was more prominent in females. Moreover, it demonstrated the highest area under the ROC curve (0.67 [0.63-0.7]) in comparison to other surrogate indices for insulin resistance. All feature selection approaches concur that the TyG-index is the most reliable surrogate insulin resistance marker for predicting CAD. Based on the Ceteris paribus profile of Random Forest the predictive ability of the TyG-index increased steadily after 9 with a positive slope, without any decline or leveling off. CONCLUSION: Due to the simplicity of assessing the TyG-index with routine biochemical assays and given that the TyG-index was the most effective surrogate insulin resistance index for predicting CAD based on our results, it seems suitable for inclusion in future CAD prevention strategies.


Subject(s)
Biomarkers , Coronary Artery Disease , Insulin Resistance , Machine Learning , Predictive Value of Tests , Humans , Coronary Artery Disease/blood , Coronary Artery Disease/diagnosis , Female , Male , Middle Aged , Biomarkers/blood , Aged , Risk Assessment , Adult , Prognosis , Young Adult , Risk Factors , Time Factors , Insulin/blood , Blood Glucose/metabolism
3.
BMC Cardiovasc Disord ; 24(1): 101, 2024 Feb 12.
Article in English | MEDLINE | ID: mdl-38347457

ABSTRACT

BACKGROUND: There is a substantial disparity in coronary artery disease (CAD) burden between Iran and other nations that place a strong emphasis on the assessment of CAD risk factors and individuals' awareness and ability to control them. METHODS: Two thousand participants of a community-based Iranian population aged 20-74 years were investigated with a mean follow-up of 9.9 years (range: 7.6 to 12.2). An analysis of Cox regression was conducted to determine the association between CAD development and classic risk factors such as age, sex, smoking, physical activity, education, obesity, dyslipidemia, hypertension, and diabetes mellitus. Furthermore, we computed the population attributable fraction for these risk factors. RESULTS: After a follow-up period of nearly 10 years, 225 CAD events were reported, constituting 14.5% of the overall incidence. Nighty three percent of participants had more than one risk factor. Age was the most predictive risk factor, with a hazard ratio (HR) and confidence interval (CI) of 5.56 (3.87-7.97, p < 0.001) in men older than 45 and females older than 55 compared to lower ages. In comparison to females, males had an HR of 1.45 (CI: 1.11-1.90, p value = 0.006) for developing CAD. Nearly 80% of the patients had dyslipidemia, with a hazard ratio of 2.19 (CI: 1.40-3.44, p = 0.01). Among the participants, 28.9% had hypertension, and 52% had prehypertension, which had HRs of 4.1 (2.4-7.2, p < 0.001) and 2.4 (1.4-4.2, p < 0.001), respectively. Diabetes, with a prevalence of 17%, had an HR of 2.63 (CI: 2 -3.47, p < 0.001), but prediabetes was not significantly associated with CAD. Awareness of diabetes, dyslipidemia, and hypertension was 81%, 27.9%, and 48.1%, respectively. Regarding medication usage, the corresponding percentages were 51% for diabetes, 13.2% for dyslipidemia, and 41% for hypertension. CONCLUSIONS: Compared to previous studies in Iran and neighboring countries, the current study found a higher incidence of CAD, more prevalent risk factors, and a lower awareness and ability to control these risk factors. Thus, an effective preventive strategy is needed to reduce the CAD burden in Iran.


Subject(s)
Coronary Artery Disease , Diabetes Mellitus , Dyslipidemias , Hypertension , Male , Female , Humans , Coronary Artery Disease/diagnosis , Coronary Artery Disease/epidemiology , Coronary Artery Disease/etiology , Cohort Studies , Incidence , Iran/epidemiology , Risk Factors , Hypertension/diagnosis , Hypertension/drug therapy , Hypertension/epidemiology , Diabetes Mellitus/diagnosis , Diabetes Mellitus/drug therapy , Diabetes Mellitus/epidemiology , Dyslipidemias/diagnosis , Dyslipidemias/drug therapy , Dyslipidemias/epidemiology
4.
Cardiovasc Diabetol ; 22(1): 200, 2023 08 04.
Article in English | MEDLINE | ID: mdl-37542255

ABSTRACT

BACKGROUND: Various predictive models have been developed for predicting the incidence of coronary heart disease (CHD), but none of them has had optimal predictive value. Although these models consider diabetes as an important CHD risk factor, they do not consider insulin resistance or triglyceride (TG). The unsatisfactory performance of these prediction models may be attributed to the ignoring of these factors despite their proven effects on CHD. We decided to modify standard CHD predictive models through machine learning to determine whether the triglyceride-glucose index (TyG-index, a logarithmized combination of fasting blood sugar (FBS) and TG that demonstrates insulin resistance) functions better than diabetes as a CHD predictor. METHODS: Two-thousand participants of a community-based Iranian population, aged 20-74 years, were investigated with a mean follow-up of 9.9 years (range: 7.6-12.2). The association between the TyG-index and CHD was investigated using multivariate Cox proportional hazard models. By selecting common components of previously validated CHD risk scores, we developed machine learning models for predicting CHD. The TyG-index was substituted for diabetes in CHD prediction models. All components of machine learning models were explained in terms of how they affect CHD prediction. CHD-predicting TyG-index cut-off points were calculated. RESULTS: The incidence of CHD was 14.5%. Compared to the lowest quartile of the TyG-index, the fourth quartile had a fully adjusted hazard ratio of 2.32 (confidence interval [CI] 1.16-4.68, p-trend 0.04). A TyG-index > 8.42 had the highest negative predictive value for CHD. The TyG-index-based support vector machine (SVM) performed significantly better than diabetes-based SVM for predicting CHD. The TyG-index was not only more important than diabetes in predicting CHD; it was the most important factor after age in machine learning models. CONCLUSION: We recommend using the TyG-index in clinical practice and predictive models to identify individuals at risk of developing CHD and to aid in its prevention.


Subject(s)
Coronary Disease , Diabetes Mellitus, Type 2 , Insulin Resistance , Humans , Glucose , Cohort Studies , Triglycerides , Iran/epidemiology , Blood Glucose , Coronary Disease/diagnosis , Coronary Disease/epidemiology , Risk Factors , Biomarkers
5.
Mol Biol Rep ; 49(5): 4135-4140, 2022 May.
Article in English | MEDLINE | ID: mdl-35445908

ABSTRACT

BACKGROUND: Autosomal recessive cutis laxa (ARCL) is a heterogeneous disorder with three primary forms (ARCL 1, ARCL 2 and ARCL 3). Latent transforming growth factor beta binding protein 4 (LTBP4) anomalies cause ARCL1C and are connected to different problems in the skin and other organs. Herein, we present a seven month old Iranian boy with a clinical manifestation of ARCL1 with literature review of previous cases with attributes of ARCL1C. METHODS: Considering the craniofacial characteristics and respiratory distress of the proband, cutis laxa (CL) was expected and whole-exome sequencing (WES) was performed. RESULTS: In the proband, signs of CL were mainly located in the face, thorax, and abdomen. The prenatal investigation revealed a diaphragmatic hernia and certain uncommon signs, such as an atrial septal defect and pyloric stenosis. The WES showed a novel homozygous mutation (c.533-1G > A) in exon six of the LTBP4 gene. CONCLUSION: This report showed a new variant with uncommon clinical features, such as a stenosis atrial septal defect and pyloric stenosis, which causes ARCL1C. Unfortunately, the proband developed several heart problems and died at the age of seven months and seven days. Thus, a more in-depth evaluation is needed to clarify the different aspects of CL related to LTBP4 disorder.


Subject(s)
Cutis Laxa , Heart Septal Defects, Atrial , Pyloric Stenosis , Cartilage Diseases , Cutis Laxa/genetics , Gastrointestinal Diseases , Humans , Infant , Iran , Latent TGF-beta Binding Proteins/genetics , Male , Respiratory Tract Diseases , Urologic Diseases
6.
Fetal Pediatr Pathol ; 41(2): 259-277, 2022 Apr.
Article in English | MEDLINE | ID: mdl-32643534

ABSTRACT

BackgroundPrevious studies have provided conflicting evidence implicating the IL-13 polymorphism and pediatric asthma. Thus, we performed a meta-analysis to combine and analyze the available studies to provide more accurate conclusions. Methods: A comprehensive retrieval in PubMed, EMBASE, Web of Science, and CNKI was performed up to February 05, 2020. Results: A total of 39 case-control studies including 15 studies with 4,968 cases and 7,091 controls were on +1923 C > T, ten studies with 3,175 cases and 2,983 controls on -1112 C > T, and 14 studies with 4,476 cases and 5,121 controls on +2044 A > G were selected. Pooled data showed that the IL-13 + 1923 C > T, -1112 C > T and +2044 A > G polymorphisms were significantly associated with risk of pediatric asthma. The IL-13 + 1923 C > T (Asians and Africans), -1112 C > T (Caucasians) and +2044 A > G (Asians) polymorphisms were more frequently associated in these ethnic groups. Conclusions: Our pooled data indicated that IL-13 + 1923 C > T, -1112 C > T and +2044 A > G polymorphisms were correlated with risk of pediatric asthma.


Subject(s)
Asthma , Interleukin-13 , Asian People , Asthma/genetics , Child , Genetic Predisposition to Disease , Humans , Interleukin-13/genetics , Polymorphism, Single Nucleotide
7.
Fetal Pediatr Pathol ; 41(1): 116-133, 2022 Feb.
Article in English | MEDLINE | ID: mdl-32536231

ABSTRACT

BACKGROUND: The association of the fetal MTHFR A1298C (rs1801131) polymorphism and neural tube defects (NTDs) susceptibility has been widely demonstrated, but the results remain inconclusive. Thus, we performed a meta-analysis to investigate the association between fetal MTHFR A1298C polymorphism and NTDs risk. METHODS: An electronic search of PubMed, web of science, SciELO, CNKI database for studies on the fetal MTHFR A1298C polymorphism and NTDs risk was performed up to March 30, 2020. RESULTS: A total of 22 case-control studies with 3,224 fetuses with NTDs and 3,295 controls were selected. Overall, pooled data showed that the fetal MTHFR A1298C polymorphism was not significantly associated with risk an increased risk of NTDs in the global population. When stratified analysis by ethnicity, country of origin and NTDs type, still no statistically significant association was found. CONCLUSIONS: Our pooled data emerged no evidence for significant association between fetal MTHFR A1298C polymorphism and NTDs risk.


Subject(s)
Methylenetetrahydrofolate Reductase (NADPH2) , Neural Tube Defects , Case-Control Studies , Female , Fetus , Genetic Predisposition to Disease , Genotype , Humans , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Neural Tube Defects/genetics , Polymorphism, Genetic , Polymorphism, Single Nucleotide , Pregnancy , Prenatal Care
8.
Fetal Pediatr Pathol ; 41(2): 242-258, 2022 Apr.
Article in English | MEDLINE | ID: mdl-32536239

ABSTRACT

BackgroundSeveral studies have investigated the role of PAI-1 4G/5G and ACE I/D polymorphisms in the etiology of pediatric sepsis, but the results are inconsistent. We performed a meta-analysis to assess for any associations. Methods: A comprehensive literature search on PubMed, web of science, and CNKI database was conducted up to April 15, 2020. Results: There were twelve case-control studies involving seven studies with 860 cases and 1144 controls on PA-1 4G/5G and five studies with 1602 cases and 1585 controls on ACE I/D. PAI-1 4G/5G and ACE I/D polymorphisms were associated with an increased risk of pediatric sepsis in the global population. Stratified analysis by ethnicity showed a significant association in the Caucasians children. Conclusions: The meta-analysis suggests that the PAI-1 4G/5G and ACE I/D polymorphisms may be risk factors for development of pediatric sepsis in the global population.


Subject(s)
Plasminogen Activator Inhibitor 1 , Sepsis , Case-Control Studies , Child , Genetic Predisposition to Disease , Genotype , Humans , Plasminogen Activator Inhibitor 1/genetics , Polymorphism, Genetic , Risk Factors , Sepsis/genetics
9.
Fetal Pediatr Pathol ; 41(2): 225-241, 2022 Apr.
Article in English | MEDLINE | ID: mdl-32536242

ABSTRACT

Background MTHFR gene may be a key epigenetic regulation-related factor crucial during embryogenesis. We performed a meta-analysis to determine the association of fetal MTHFR C677T polymorphism with neural tube defects (NTDs).Methods A comprehensive literature search of the PubMed, Embase, and CNKI database was performed up to April 10, 2020.Results A total of 19 case-control studies with 2,228 NTDs cases and 4,220 controls were identified. Pooled data revealed that the fetal MTHFR C677T polymorphism was significantly highly correlated with development of NTDs in the overall population. Stratified analysis showed a significant association among Caucasians and Asians, but not in mixed populations. There was a significant association between the MTHFR C677T polymorphism and spina bifida risk. No publication bias was found under any genetic model.Conclusions Our pooled data support the fetal MTHFR C677T polymorphism association with risk of NTDs, especially among Caucasians and Asians.


Subject(s)
Epigenesis, Genetic , Neural Tube Defects , Case-Control Studies , Female , Genetic Predisposition to Disease , Humans , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Neural Tube Defects/genetics , Polymorphism, Single Nucleotide
10.
Arch Gynecol Obstet ; 304(5): 1135-1151, 2021 11.
Article in English | MEDLINE | ID: mdl-34387724

ABSTRACT

BACKGROUND: The association of polymorphisms at nitric oxide synthases (eNOS) gene with recurrent pregnancy loss (RPL) susceptibility has been the focus of attention in several studies. However, the conclusions have been divergent and controversial. Therefore, we performed this study to precisely evaluate the association of eNOS polymorphisms with the risk of RPL. METHODS: A universal search in PubMed, Web of Knowledge, SciELO, MedRxiv, Scopus and web of Science was performed to identify relevant studies up to January 25, 2020. RESULTS: A total of 39 eligible studies including 15 studies with 2274 cases and 1933 controls on VNTR 4b/a, nine studies with 1640 cases and 1268 controls on -786C > T, and 15 studies with 2660 cases and 2557 controls on + 894G > T polymorphism were selected. Pooled data revealed that eNOS VNTR 4b/a (dominant model: OR = 1.174, 95% CI 1.021-1.350, p = 0.025) and + 894G > T (allele model: OR = 1.278, 95% CI 1.024-1.595, p = 0.030; homozygote model: OR = 1.442, 95% CI 1.084-1.917, p = 0.012; dominant model: OR = 1.305, 95% CI 1.006-1.693, p = 0.045; and recessive model: OR = 1.378, 95% CI 1.045-1.817, p = 0.023) polymorphisms were significantly associated with an increased risk of RPL, but not - 786 T > C. Stratified analysis by ethnicity revealed that the eNOS + 894G > T was associated with RPL risk in Asians. CONCLUSIONS: To sum up, our results indicated that the eNOS VNTR 4b/a and + 894G > T polymorphisms might be contributing to RPL development, but not the - 786C > T polymorphism.


Subject(s)
Abortion, Habitual/genetics , Genetic Predisposition to Disease , Nitric Oxide Synthase Type III/genetics , Polymorphism, Single Nucleotide/genetics , Alleles , Case-Control Studies , Female , Humans , Polymorphism, Genetic , Pregnancy
11.
Fetal Pediatr Pathol ; 40(4): 305-319, 2021 Aug.
Article in English | MEDLINE | ID: mdl-31909686

ABSTRACT

BACKGROUND: Although published individual studies have reported associations between BMP4 rs17563 polymorphism and nonsyndromic cleft lip with or without cleft palate (NSCLP) risk, the results are conflicting. This meta-analysis was conducted to assess the association based on multiple studies. Methods: A comprehensive literature search up to October 1st, 2019 was performed using PubMed, Science Direct, China National Knowledge Infrastructure (CNKI), and Wanfang databases. Results: Fourteen case-control studies with 2,058 NSCLP cases and 2,557 controls were selected. There was no significant association between BMP4 rs17563 polymorphism and risk of NSCLP overall. Subgroup analysis revealed that BMP4 rs17563 polymorphism was associated with NSCLP risk in Chinese and Brazilian populations. Conclusions: This meta-analysis suggests that BMP4 rs17563 polymorphism was not associated with NSCLP risk in overall population. However, BMP4 rs17563 polymorphism may be a risk factor for development of NSCLP in Chinese and Brazilians.


Subject(s)
Cleft Lip , Cleft Palate , Bone Morphogenetic Protein 4/genetics , Case-Control Studies , China , Cleft Lip/genetics , Cleft Palate/genetics , Genetic Predisposition to Disease , Genotype , Humans , Polymorphism, Single Nucleotide
12.
Fetal Pediatr Pathol ; 40(2): 153-165, 2021 Apr.
Article in English | MEDLINE | ID: mdl-31738634

ABSTRACT

BACKGROUND: This meta-analysis was carried out to evaluate the associations between IL-10 polymorphisms and Kawasaki disease (KD) risk. METHODS: A comprehensive literature search was performed using PubMed, EMBASE, China National Knowledge Infrastructure and SciELO for all relevant studies evaluating IL-10 polymorphism and susceptibility to KD. The associations were measured by odds ratios (ORs) and its corresponding 95% confidence intervals (CIs). RESULTS: A total of 13 studies including four studies on -1082 A > G, four studies on -819 T > C and five studies on -592 A > C polymorphism were selected. Pooled data revealed that IL-10 -592 A > C polymorphism was significantly associated with an increased risk of KD (C vs. A: OR = 0.402, 95% CI 0.194-0.832, p = 0.014). However, IL-10 -1082 A > G and -819 T > C polymorphisms were not significantly associated with risk of KD under all five genetic models. CONCLUSIONS: Our results revealed that IL-10 -592 A > C polymorphism was associated with risk of KD, while IL-10 -1082 A > G and -819 T > C polymorphisms were not involved in the development of KD.


Subject(s)
Interleukin-10 , Mucocutaneous Lymph Node Syndrome , China , Genetic Predisposition to Disease , Humans , Interleukin-10/genetics , Mucocutaneous Lymph Node Syndrome/genetics , Polymorphism, Single Nucleotide
13.
Fetal Pediatr Pathol ; 40(3): 233-249, 2021 Jun.
Article in English | MEDLINE | ID: mdl-31846376

ABSTRACT

BACKGROUND: Previous studies have suggested an association between VEGF-A polymorphisms and retinopathy of prematurity (ROP) risk. But the conclusions are still controversial. The aim of this meta-analysis was to evaluate the association between the VEGF-A polymorphisms and susceptibility of ROP. Methods: We searched PubMed, Scopus, WanFang and CNKI databases for all eligible case-control studies published before September 30, 2019. Results: A total of 27 case-control studies with 5,748 ROP cases and 6,146 controls were selected. The results suggested that there was an association between VEGF-A -460T > C polymorphism and increased risk of ROP under the allele model (C vs. T: OR= 0.879, 95% CI 0.776-0.994, p = 0.040). However, VEGF-A -634G > C, +405G > C and +936C > T polymorphisms were not significantly associated with risk of ROP. The subgroup analysis demonstrated that VEGF-A +405G > C polymorphism was associated with ROP risk in Caucasians. Conclusions: This meta-analysis indicates that VEGF-A -460T > C polymorphism may contribute to the susceptibility for ROP.


Subject(s)
Retinopathy of Prematurity , Vascular Endothelial Growth Factor A/genetics , Alleles , Case-Control Studies , Genetic Predisposition to Disease , Humans , Infant, Newborn , Polymorphism, Single Nucleotide , Retinopathy of Prematurity/genetics
14.
Fetal Pediatr Pathol ; 40(4): 337-353, 2021 Aug.
Article in English | MEDLINE | ID: mdl-31880477

ABSTRACT

BACKGROUND: This study was conducted to estimate the precise association of fetal MTHFR 677 C > T polymorphism with risk of nonsyndromic cleft lip with or without cleft palate (NSCL ± P) using a large-scale meta-analysis. Methods: A comprehensive literature search was performed using studies published on PubMed, Science Direct, Scopus and CNKI databases up to November 1, 2019. Results: A total of 38 studies with 6,525 children with NSCL ± P and 8,606 controls were selected. Overall, there was a significant association between MTHFR 677 C > T polymorphism and NSCL ± P risk. Subgroup analysis by ethnicity revealed that MTHFR 677 C > T polymorphism contributed to development of NSCL ± P in Caucasian and Mixed populations, but not in Asians. When stratified by country of origin, we found a significant association in Brazilian, Turkish and Indian populations, but not in Chinese and US-American. Conclusions: This meta-analysis provides strong evidence that fetal MTHFR 677 C > T polymorphism is significantly associated with NSCL ± P risk.


Subject(s)
Cleft Lip , Cleft Palate , Case-Control Studies , Child , Cleft Lip/genetics , Cleft Palate/genetics , Genetic Predisposition to Disease , Genotype , Humans , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Palate , Polymorphism, Single Nucleotide
15.
Fetal Pediatr Pathol ; 40(4): 320-336, 2021 Aug.
Article in English | MEDLINE | ID: mdl-31884867

ABSTRACT

BACKGROUND: Kawasaki Disease (KD) is a multifactorial condition at the junction of infectious diseases, immunology, rheumatology, and cardiology. The aim of this study is to derive a more precise estimation of the association of TNF-α rs1800629, CASP3 rs72689236 and FCGR2A rs1801274 polymorphisms with risk of KD. Methods: PubMed, EMBASE, CNKI databases were searched to identify all relevant studies. Pooled odds ratios (OR) with 95% confidence intervals (CI) were calculated using CMA 2.2 software. Results: A total of 25 studies including eleven studies on TNF-α rs1800629, five studies on CASP3 rs72689236 and nine studies on FCGR2A rs1801274 were selected. Overall, pooled data revealed that CASP3 rs72689236 and FCGR2A rs1801274 polymorphisms were significantly associated with an increased risk of KD. However, there was no significant association between TNF-α rs1800629 and KD. Conclusions: This meta-analysis suggested that CASPS rs72689236 and FCGR2A rs1801274 polymorphisms may modulate individual susceptibility to KD.


Subject(s)
Mucocutaneous Lymph Node Syndrome , Tumor Necrosis Factor-alpha , Caspase 3/genetics , Genetic Predisposition to Disease , Genotype , Humans , Mucocutaneous Lymph Node Syndrome/genetics , Polymorphism, Single Nucleotide , Receptors, IgG/genetics , Tumor Necrosis Factor-alpha/genetics
16.
Fetal Pediatr Pathol ; 40(6): 638-652, 2021 Dec.
Article in English | MEDLINE | ID: mdl-32057284

ABSTRACT

BackgroundThis meta-analysis evaluates the correlation between the IL-6 -174 G > C polymorphism and susceptibility of childhood sepsis. Methods: We searched PubMed, ISI Web of Knowledge, Scopus, CNKI, SID, SciELO databases until December 30, 2019 to identify all eligible studies. Results: A total of 17 studies with 1,287 cases and 2,482 controls were identified. Pooled data revealed that there was no significant association between the IL-6 -174 G > C polymorphism and risk childhood sepsis in the overall population. When stratified analysis was carried out by age group of cases, no associations were found in neonates and pediatrics. However, in ethnicity-based subgroups, a significant association was found in Caucasians and Africans. Conclusions: There was no significant association of the IL-6 -174G > C polymorphism with susceptibility to sepsis in childhood overall, but there was an association with the Caucasian and African ethnic subgroups.


Subject(s)
Interleukin-6 , Sepsis , Child , Genetic Predisposition to Disease , Humans , Infant, Newborn , Interleukin-6/genetics , Polymorphism, Genetic , Sepsis/genetics
17.
Fetal Pediatr Pathol ; 40(6): 612-625, 2021 Dec.
Article in English | MEDLINE | ID: mdl-32064992

ABSTRACT

BackgroundRecently, epidemiological studies investigating the association of MTHFR 677 C > T, 1298 A > C and MTR 2756 A > G polymorphism with retinoblastoma susceptibility reported controversial results. Methods: Data were collected from several electronic databases such as PubMed, EMBASE, and Google Scholar databases, with the last search up to December 05, 2019. Results: A total of eleven case-control studies including four studies with 324 cases and 490 controls on MTHFR 677 C > T, four studies with 324 cases and 490 controls on MTHFR 1298 A > C, and three studies with 283 cases and 485 controls on MTR 2756 A > G were selected. There was a significant association between MTHFR 677 C > T and MTR 2756 A > G polymorphisms and an increased risk of retinoblastoma. However, MTHFR 1298 A > C polymorphism was not significantly associated with risk of retinoblastoma. Conclusion: This meta-analysis demonstrated that MTHFR 677 C > T and MTR 2756 A > G polymorphisms might play important roles in the development of retinoblastoma. No association with MTHFR 1298 A > C polymorphism was observed.


Subject(s)
Retinal Neoplasms , Retinoblastoma , 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase/genetics , Case-Control Studies , Child , Genetic Predisposition to Disease , Genotype , Humans , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Polymorphism, Single Nucleotide , Retinal Neoplasms/genetics , Retinoblastoma/genetics
18.
Fetal Pediatr Pathol ; 40(1): 1-17, 2021 Feb.
Article in English | MEDLINE | ID: mdl-31682771

ABSTRACT

BACKGROUND: Several studies have evaluated association of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene 1298A > C polymorphism with non-syndromic cleft lip with or without palate (NSCL ± P) susceptibility, however the results are inconsistent. MATERIALS AND METHODS: To address this issue, we performed a case-control study to evaluate the association of MTHFR 1298A > C polymorphism with NSCL ± P risk, followed by a meta-analysis. RESULTS: Including our study, a total of 22 case-control studies with 2,814 cases and 4,199 controls were selected. The results suggested that there was no significant association between MTHFR 1298A > C polymorphism and NSCL ± P risk overall. The subgroup analysis demonstrated that the polymorphism was significantly associated with NSCL ± P risk in Asians and Iranian populations, but not in Caucasians, mixed and Chinese populations. CONCLUSION: This meta-analysis indicates that MTHFR 1298A > C polymorphism may not contribute to NSCL ± P risk in overall. However, the MTHFR 1298A > C polymorphism was significantly associated with an increased risk of NSCL ± P in Asians and Iranian populations.


Subject(s)
Cleft Lip , Cleft Palate , Case-Control Studies , Cleft Lip/genetics , Cleft Palate/genetics , Genetic Predisposition to Disease , Genotype , Humans , Iran , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Polymorphism, Single Nucleotide
19.
Fetal Pediatr Pathol ; 40(6): 605-611, 2021 Dec.
Article in English | MEDLINE | ID: mdl-32249650

ABSTRACT

BackgroundInsulin-like growth factor-II (IGF-II) has a prominent role in fetal growth and development. The aim of this study was to investigate the association of IGF-II Apa1 and MspI polymorphisms with intrauterine growth restriction (IUGR) risk. Methods: A total of 45 infants with IUGR and 45 infants appropriate for gestational (AGA) were enrolled. Genotyping of Apa1 and MspI polymorphisms was assayed by PCR-RFLP approach. Results: The heterozygote genotype (AG) of IGF-II Apa1 CT was associated with an increased risk of IUGR. Genotypes and alleles of IGF-II MspI polymorphism had no significant association with IUGR susceptibility (P > 0.05). Conclusions: The current study suggests that IGF-II Apa1 polymorphism is associated with an increased risk of IUGR, while IGF-II MspI showed no association with IUGR. Thus, IGF-II Apa1 polymorphism could be used as a relevant molecular marker to identify the fetus at risk of developing IUGR.


Subject(s)
Fetal Growth Retardation , Insulin-Like Growth Factor II , Fetal Development , Fetal Growth Retardation/genetics , Fetus , Humans , Infant , Insulin-Like Growth Factor II/genetics
20.
Fetal Pediatr Pathol ; 39(3): 246-250, 2020 Jun.
Article in English | MEDLINE | ID: mdl-32238084

ABSTRACT

Background: Since early December 2019, the Coronavirus Disease 19 (COVID-19) infection has been prevalent in China and eventually spread to other countries. There are a few published cases of COVID-19 occurring during pregnancy and due the possibility of mother-fetal vertical transmission, there is a concern that the fetuses may be at risk of congenital COVID-19. Methods: We reviewed the risk of vertical transmission of COVID-19 to the fetus of infected mothers by using data of published articles or official websites up to March 4, 2020. Results: A total of 31 infected pregnant mothers with COVID-19 were reported. No COVID-19 infection was detected in their neonates or placentas. Two mothers died from COVID-19-related respiratory complications after delivery. Conclusions: Currently, based on limited data, there is no evidence for intrauterine transmission of COVID-19 from infected pregnant women to their fetuses. Mothers may be at increased risk for more severe respiratory complications.


Subject(s)
Coronavirus Infections/complications , Coronavirus Infections/transmission , Infectious Disease Transmission, Vertical , Pneumonia, Viral/complications , Pneumonia, Viral/transmission , Pregnancy Complications, Infectious , Betacoronavirus , COVID-19 , Canada , China/epidemiology , Female , Hong Kong , Humans , Infant, Newborn , Iran/epidemiology , Maternal Mortality , Pandemics , Pregnancy , Respiration Disorders/complications , Risk , SARS-CoV-2 , United States
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