IL-4Gene Polymorphism May Contribute to an Increased Risk of Atopic Dermatitis in Children

This study aimed to elucidate the associations betweeninterleukin-4(IL-4) single nucleotide polymorphisms (SNPs), 590C/T and 589C/T, serum IL-4 levels, and atopic dermatitis (AD) in children.Methods. A total of 82 children with AD were randomly selected as the case group and divided into mild group (15 cases), moderate group (46 cases), and severe group (21 cases). Additionally, 100 healthy children were selected as the control group. Genotype frequencies of IL-4 SNPs were detected by PCR-RFLP. Serum IL-4 levels were measured by ELISA.Results. Significant differences were shown in genotype distributions and allele frequencies of 589C/T and allele frequencies of 590C/T (allP<0.05). Serum IL-4 levels in the mild, moderate, and severe groups were significantly higher than those in the control group; significant differences were found among these three groups with increased severity of AD. Serum IL-4 levels of heterozygote and mutant homozygote carriers in the mild, moderate, and severe groups were higher than wild homozygote carriers in those three groups and the control group (allP<0.05).Conclusion. 590T and 589T alleles ofIL-4gene may be associated with high levels of serum IL-4, which may increase the risk of AD in children.

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The Association Study of IL-23R Polymorphisms With Cerebral Palsy in Chinese Population

Frontiers in Neuroscience ◽

10.3389/fnins.2020.590098 ◽

2020 ◽

Vol 14 ◽

Author(s):

Yangong Wang ◽

Yiran Xu ◽

Yangyi Fan ◽

Dan Bi ◽

Juan Song ◽

...

Keyword(s):

Cerebral Palsy ◽

Subgroup Analysis ◽

Control Method ◽

Motor Dysfunction ◽

Global Developmental Delay ◽

Control Group ◽

Case Group ◽

Healthy Children ◽

Genotype Frequencies ◽

Increased Risk

Background: Cerebral palsy (CP) is a syndrome of non-progressive motor dysfunction caused by early brain development injury. Recent evidence has shown that immunological abnormalities are associated with an increased risk of CP.Methods: We recruited 782 children with CP as the case group and 770 healthy children as the control group. The association between IL-23R single nucleotide polymorphisms (SNPs; namely, rs10889657, rs6682925, rs1884444, rs17375018, rs1004819, rs11805303, and rs10889677) and CP was studied by using a case–control method and SHEsis online software. Subgroup analysis based on complications and clinical subtypes was also carried out.Results: There were differences in the allele and genotype frequencies between CP cases and controls at the rs11805303 and rs10889677 SNPs (Pallele = 0.014 and 0.048, respectively; Pgenotype = 0.023 and 0.008, respectively), and the difference in genotype frequency of rs10889677 remained significant after Bonferroni correction (Pgenotype = 0.048). Subgroup analysis revealed a more significant association of rs10889677 with CP accompanied by global developmental delay (Pgenotype = 0.024 after correction) and neonatal encephalopathy (Pgenotype = 0.024 after correction).Conclusion: The present results showed a significant association between IL-23R and CP, suggesting that IL-23R may play a potential role in CP pathogenesis.

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Relationship between CDH23 gene and risk of noise-induced hearing loss

10.21203/rs.3.rs-276861/v1 ◽

2021 ◽

Author(s):

Jie Jiao ◽

Shanfa Yu ◽

Guizhen Gu ◽

Guoshun Chen ◽

Huanling Zhang ◽

...

Keyword(s):

Hearing Loss ◽

Noise Exposure ◽

Control Group ◽

Case Group ◽

Noise Induced Hearing Loss ◽

Nucleotide Polymorphisms ◽

Significant Relationships ◽

Increased Risk ◽

Main Effects ◽

The Relationship

Abstract Objective: To investigate the relationship between CDH23 gene and the risk of noise-induced hearing loss (NIHL).Methods: This was a case-control study. Noise-exposed workers worked in a steel factory in North China was recruited and been divided into two groups: the case group (BHFTA ≥40 dB) and the control group (BHFTA<25 dB). We analyzed the association among 18 single nucleotide polymorphisms (SNPs) in CDH23 and NIHL risk using the generalized multifactor dimensionality reduction (GMDR) method. Logistic regression was performed to analyze the main effects of SNPs and the interactions between CNE and SNPs adjusting cumulative noise exposure (CNE), smoking, drinking, physical exercise and hypertension. Results: In this study, 776 subjects of period I and 1117 subjects of period I+II were recruited. The results showed that subjects who carried the AA genotype of rs3802711possessed significantly increased risk of NIHL than those carrying GG (OR: 2.71; 95% CI:1.15, 6.39) and GA+GG (OR: 2.54; 95% CI: 1.09, 6.00) in period I, respectively. For rs11592462, subjects carrying the GG genotype showed a significantly increased risk of NIHL compared with the subjects. Significant relationships were showed between rs10999947, rs3802711, rs10762480, rs3752751, rs3752752, rs3747867, and rs11592462 for NIHL overall and various CNE strata. There was no significant association between the rs1227049 - rs3752752 - rs10999947 - rs3752751 - rs10762480 - rs3802711 - rs11592462 - rs4747195 - rs4747194 - rs10466026 haplotypes and NIHL risk. Conclusions: The genetic variation in the CDH23 gene might play an important role in determining individual susceptibility to NIHL.

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Association of LAG3 genetic variation with an increased risk of PD in Chinese female population

Journal of Neuroinflammation ◽

10.1186/s12974-019-1654-6 ◽

2019 ◽

Vol 16 (1) ◽

Cited By ~ 2

Author(s):

Wenyuan Guo ◽

Miaomiao Zhou ◽

Jiewen Qiu ◽

Yuwan Lin ◽

Xiang Chen ◽

...

Keyword(s):

Lymphocyte Activation ◽

Control Group ◽

Strong Linkage Disequilibrium ◽

Nucleotide Polymorphisms ◽

Serum Samples ◽

Meso Scale Discovery ◽

Female Population ◽

Genotype Frequencies ◽

Potential Biomarker ◽

Increased Risk

Abstract Background Emerging evidence suggests that α-synuclein (α-syn) aggregation and intercellular transmission contributes to pathogenesis of Parkinson’s disease (PD) and the toxic fibrillary α-syn binds lymphocyte-activation gene 3 (LAG3) receptor that mediates α-syn transmission. The deletion of LAG3 in animal models was shown to limit α-syn spreading and alleviate the pathological changes of dopaminergic neurons and animal behavioral deficits induced by α-syn aggregation. However, little is known about the genetic association of LAG3 variation with human PD development. Objective Here we investigated LAG3 single nucleotide polymorphisms (SNPs) and examined the levels of soluble LAG3 (sLAG3) of CSF and serum from Chinese PD patients. Methods We enrolled 646 PD patients and 536 healthy controls to conduct a case-control study. All the participants were genotyped using Sequenom iPLEX Assay and the partial cerebrospinal fluid (CSF) and serum samples were assessed by Meso Scale Discovery electrochemiluminescence (MSD-ECL) immunoassay to measure sLAG3 concentration. Results As a result, distributions of rs1922452-AA (1.975, 95% confidence interval (CI) 1.311–2.888, p = 0.001) and rs951818-CC (OR = 2.03, 95% CI 1.369–3.010, p = 0.001) genotype frequencies were found higher in the female PD patients than controls, respectively, and a strong linkage disequilibrium (LD) was calculated on the variants. The level of sLAG3 in CSF of PD patients was found to significantly differ from that of controls (51.56 ± 15.05 pg/ml vs 88.49 ± 62.96 pg/ml, p < 0.0001). Meanwhile, the concentration of α-synuclein in CSF of patients was significantly lower than that of controls (939.9 ± 2900 pg/ml vs 2476 ± 4403 pg/ml, p < 0.0001) and the level of sLAG3 was detected to be positive correlation with that of α-synuclein in the control group (r = 0.597, p = 0.0042), but not in PD group (r = 0.111, p = 0.408). Conclusion In summary, our data suggested that LAG3 SNPs increase the PD risk of Chinese female population and the sLAG3 may be a potential biomarker predicted for PD development.

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Mitochondrial nicotinamide adenine dinucleotide hydride dehydrogenase (NADH) subunit 4 (MTND4) polymorphisms and their association with male infertility

Journal of Assisted Reproduction and Genetics ◽

10.1007/s10815-021-02199-w ◽

2021 ◽

Author(s):

Fatina W. Dahadhah ◽

Mayyas Saleh Jaweesh ◽

Mazhar Salim Al Zoubi ◽

Manal Issam Abu Alarjah ◽

Mohamad Eid Hammadeh ◽

...

Keyword(s):

Mitochondrial Dna ◽

Male Infertility ◽

Semen Analysis ◽

Control Group ◽

Case Group ◽

Nucleotide Polymorphisms ◽

Genotype Frequencies ◽

Study Population ◽

The Relationship ◽

Sanger Method

Abstract Purpose The purpose of the present study was to determine the relationship between infertility and the polymorphisms of mitochondrial NADH dehydrogenase subunit 4 (MTND4) by spermatozoa analysis in fertile and subfertile men. Methods Samples were divided into 68 subfertile men (case group) and 44 fertile men (control group). After semen analysis, samples were purified. The whole genome was extracted using a QIAamp DNA Mini Kit and the mitochondrial DNA was amplified by using the REPLI-g Mitochondrial DNA Kit. Polymerase chain reaction (PCR) was used to amplify the MT-ND4 gene. Then, samples were purified and sequenced using the Sanger method. Results Twenty-five single-nucleotide polymorphisms (SNPs) were identified in the MTND4 gene. The genotype frequencies of the study population showed a statistically significant association between rs2853495 G>A (Gly320Gly) and male infertility (P = 0.0351). Similarly, the allele frequency test showed that rs2853495 G>A (Gly320Gly) and rs869096886 A>G (Leu164Leu) were significantly associated with male infertility (adjusted OR = 2.616, 95% CI = 1.374–4.983, P = 0.002; adjusted OR = 2.237, 95% CI = 1.245–4.017, P = 0.007, respectively). Conclusion In conclusion, our findings suggested that male infertility was correlated with rs2853495 and rs869096886 SNPs in MTND4.

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Correlations between ACE single nucleotide polymorphisms and prognosis of patients with septic shock

Bioscience Reports ◽

10.1042/bsr20170145 ◽

2017 ◽

Vol 37 (2) ◽

Cited By ~ 3

Author(s):

Xin-Man Dou ◽

Hui-Juan Cheng ◽

Ling Meng ◽

Lin-Lin Zhou ◽

Yi-Hong Ke ◽

...

Keyword(s):

Septic Shock ◽

Single Nucleotide Polymorphisms ◽

Survival Curve ◽

Control Group ◽

Case Group ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Kaplan Meier ◽

Genotype Frequencies ◽

Ace Activity

The aim of the present study is to investigate association between septic shock (SS) and angiotensin I-converting enzyme (ACE) single nucleotide polymorphisms (SNPs). From October 2009 to December 2016, 238 SS patients and 242 healthy individuals were selected for our study. ACE activity was detected, ACE rs4291 and rs4646994 polymorphisms were detected using PCR-restriction fragment length polymorphism (PCR-RFLP). The Kaplan–Meier survival curve was employed to evaluate the association between ACE SNPs and patients’ survival and univariate and multivariate analyses to estimate risk factors for SS. ACE activity in the case group was increased in comparison with the control group. Allele and genotype frequencies of rs4291 and rs4646994 were different between the case and control groups. The TT genotype frequency of the rs4291 polymorphisms and the DD genotype of the rs4646994 polymorphisms of the case group were higher than those in the control group. The AT and TT genotypes indicated a significant elevation of ACE activity than the AA genotype, while a significant decline was found in the DI and II genotypes in comparison with the DI genotype. Patients with TT or DD genotypes had increased fatality rate within 7 and 30 days when compared with those with non-TT or non-DD genotypes. Lower sepsis-related organ failure assessment (SOFA) scores, rs4291, serum ACE and rs4646994 were all considered as risky factors for SS patients. The study demonstrates that TT genotype of rs4291 or DD genotype of rs4646994 may be indicative of a higher risk of SS and a poorer prognosis in SS patients.

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The effects of antibiotic exposure on asthma in children with atopic dermatitis

Scientific Reports ◽

10.1038/s41598-021-87981-7 ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

I-Lun Chen ◽

Ming-Kai Tsai ◽

Hao-Wei Chung ◽

Hui-Min Hsieh ◽

Yu-Ting Huang ◽

...

Keyword(s):

Risk Factors ◽

Atopic Dermatitis ◽

Conditional Logistic Regression ◽

Control Group ◽

Case Group ◽

Antibiotic Exposure ◽

Defined Daily Doses ◽

Increased Risk ◽

Asthma In Children ◽

New Onset

AbstractEarly-life antibiotic use is associated with allergic diseases. The risk factors for the progression from atopic dermatitis (AD) to asthma or allergic rhinitis are still unknown. We aimed to investigate the association between exposure to different antibiotics and the risk of new-onset asthma in children with AD. By using the Longitudinal Health Insurance Database 2005, we selected AD patients less than 6 years old identified by ICD-9-CM code 691.8. The case group was defined as those having new-onset asthma, and the control group was defined as those without an asthma history. Information on antibiotic exposure in the 5 years prior to the index date was collected from drug prescription records. We estimated the adjusted odds ratio by using conditional logistic regression, adjusted for age, sex, index year, other potential risk factors and antibiotics. Antibiotic exposure was associated with the development of asthma in patients with AD (aOR = 3.68, 95% CI 2.13–6.36), particularly for patients less than 5 years old (aOR = 4.14, 95% CI 2.24–7.64) (p for trend < 0.001), even though lower cumulative antibiotic defined daily doses (DDDs) were associated with new-onset asthma occurrence. Antibiotic exposure, especially macrolide exposure, is associated with an increased risk of asthma in patients with AD.

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The Association of rs2114358 in the miR-1206 Polymorphism to Chronic Myeloid Leukemia

MicroRNA ◽

10.2174/2211536608666190102143439 ◽

2019 ◽

Vol 8 (3) ◽

pp. 248-252 ◽

Cited By ~ 1

Author(s):

Fathelrahman Mahdi Hassan

Keyword(s):

Target Genes ◽

Association Studies ◽

Chronic Phase ◽

Bone Marrow Aspiration ◽

Teaching Hospitals ◽

Control Group ◽

Nucleotide Polymorphisms ◽

Cross Sectional ◽

Genotype Frequencies ◽

Increased Risk

Introduction:Association studies with factor candidates have advised that single nucleotide polymorphisms (SNPs) could also be related to CML progression and to the response to medical care. Genetic variation in miR-1206 of both derived and neighborhood SNPs process genes will contribute to the predisposition to cancer. The role of those with the risk of CML has not been extensively studied. Therefore, the aim of this study was to evaluate whether polymorphisms in rs2114358 in pre-miRNAs process genes contribute to the risk of CML.Methods:A cross-sectional study was conducted during the period of March 2016 to October 2017 in Khartoum state teaching hospitals. The study population included a total of 420 patients who were previously diagnosed of having CML and 220 cancer-free controls of both gender and were of the same age range. Peripheral blood and bone marrow aspiration samples were collected from patients (254 males, 166 females; median age 58.5 years, range from less than 50 and above 50 years old) and investigated after written informed consent was obtained. Patients were in chronic phase (n=212), accelerated phase (n=125), and blast (n=83). All the patients were under treatment using chemotherapy regiments. The rs2114358 SNP in pre-miRNA was selected for genotyping.Results:The genotyping success rate was 98.3%. Genotype frequencies of the derived SNP and the neighborhood rs2114358 of miR-1206 compared to the controls were significantly different under Hardy-Weinberg Equilibrium (P=0.0001 and 0.0001 respectively). Significant differences were found in allele distributions of this SNP (P<0.01 and P<0.01). In total, the derived variant C allele of rs2114358 (OR=0.168, 95% CI=0.13-0.22) and G allele of neighborhood rs2114358 (OR=0.561, 95% CI=0.44-0.72) in patients' group were associated with an increased risk of CML compared to a control group. Patients with rs2114358 CC genotype (P = 0.0001) or TC (P = 0.0001) and the neighborhood rs2114358 GA genotype (P = 0.0460) or GG (P = 0.0093) were obviously much higher than that of the TT and AA genotype's patients.Conclusion:In conclusion, we discovered the association of SNP rs2114358 in miR-1206 with the risk of CML patients, though more investigations are still required to understand the regulative mechanisms of this miR SNP with the target genes resulting in its dysregulation.

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Relationship between ADAMTS14/rs4747096 gene polymorphism and knee osteoarthritis in Chinese population

Bioscience Reports ◽

10.1042/bsr20181413 ◽

2018 ◽

Vol 38 (5) ◽

Cited By ~ 2

Author(s):

Sen Ma ◽

Cheng Ouyang ◽

Shuxin Ren

Keyword(s):

Gene Polymorphism ◽

Knee Osteoarthritis ◽

Chinese Han Population ◽

Control Group ◽

Case Group ◽

Genotype Distribution ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Han Population ◽

Genotype Frequencies

To investigate the association between single nucleotide polymorphisms (SNPs) of A disintegrin and metalloproteinase with thrombospondin motifs (ADAMTS) 14 (ADAMTS14) gene and susceptibility to knee osteoarthritis (KOA) in Chinese Han population. Using a case–control design, we enrolled 346 KOA patients and 480 healthy controls. Peripheral blood samples were extracted from each subject. Genotype was determined by sequencing PCR products. The genotype frequencies between cases and controls were compared. The genotype distribution was in accordance with Hardy–Weinberg equilibrium. The minor G allele in case group was significantly higher than in the control group (21.4 compared with 8.8%, P=0.000, odds ratio (OR) = 1.71 (95% confidence interval (CI): 1.39–2.11). The GG genotype and the GG/AG combination were more common in the osteoarthritis (OA) group than in the control group. Compared with AA genotype, the GG (OR = 3.09, 95%CI: 2.01–4.75), AG (OR = 2.55, 95%CI: 1.64–3.96), and GG/AG (OR = 1.57, 95%CI: 1.19–2.07) increased the risk of OA. Multiple logistic confirmed the findings by adjusting some potential factors. Subgroup analysis indicated that the ras4747096 was still significantly associated with KOA. There were no significant differences in allele frequency or genotypes frequency for erythrocyte sedimentation rate and C-reaction protein in OA patients (P>0.05). ADAMTS14 gene polymorphism was associated with KOA, and the GG genotype increased the risk of KOA in Chinese Han population. The ADAMTS14 may be a diagnostic marker and therapeutic target for KOA treatment. The future study should explore the specific molecular mechanism.

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Association between CYP3A4 gene rs4646437 polymorphism and the risk of hypertension in Chinese population: a case–control study

Bioscience Reports ◽

10.1042/bsr20190296 ◽

2019 ◽

Vol 39 (4) ◽

Cited By ~ 1

Author(s):

Juan Wang ◽

Hongliang Ji ◽

Helei Jia ◽

Dongsheng Guan

Keyword(s):

Chinese Population ◽

Case Control ◽

Control Group ◽

Case Group ◽

Genotype Distribution ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Increased Risk ◽

Significant Difference ◽

Cyp3a4 Gene

Abstract Using a case–control design, we assessed the association between single nucleotide polymorphisms of CYP3A4 gene rs4646437 polymorphism and the risk of hypertension in Chinese population. We recruited 450 hypertension patients from The First Clinical College, Henan University of Chinese Medicine between June 2017 and May 2018. There was a significant difference in genotype distribution between case group and control group (χ2=18.169, P=0.000). The minor A allele was significantly higher in the case group than that in the control group (31.0 vs 24.8%, P=0.000, odds ratio [OR]=1.36, 95% confidence interval [95% CI]: 1.12–1.66). Significant differences were also observed in other gene models: the GA/AA genotype did not increase the risk of hypertension compared with GG genotype (OR=1.16, 95% CI: 0.90–1.49, P=0.259). Compared with GG/GA genotype, the AA genotype also increased the risk of hypertension (OR=2.34, 95% CI: 1.56–3.50, P=0.000). For additive model, the AA genotype was significantly associated with GG genotype (OR=2.25, 95% CI: 1.49–3.42, P=0.000). The same results were found for AA vs GA (OR=2.50, 95% CI: 1.60–3.89, P=0.000). For the allele genotype, the A allele frequency was significantly higher in the case group than that in the control group (31.0 vs 24.8%, P=0.002). The A allele of CYP3A4 rs4646437 was associated with an increased risk for hypertension (OR=1.36, 95% CI: 1.12–1.66, P=0.002). Our results revealed a possible genetic association between CYP3A4 gene rs4646437 and hypertension, and the AA genotype of rs4646437 increased the risk of hypertension in Chinese Han population, and this effect could be confirmed by multivariable analyses.

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WAYS OF OPTIMIZING THE DIAGNOSTICS OF FOOD ALLERGIES IN CHILDREN BASED ON THE CLINICAL AND IMMUNOLOGICAL CRITERIA

Wiadomości Lekarskie ◽

10.36740/wlek202010129 ◽

2020 ◽

Vol 73 (10) ◽

pp. 2255-2260

Author(s):

Tetyana O. Kryuchko ◽

Liudmyla M. Bubyr ◽

Inna M. Nesina ◽

Olha Y. Tkachenko ◽

Olga V. Izmailova ◽

...

Keyword(s):

Atopic Dermatitis ◽

Food Allergy ◽

Interleukin 10 ◽

Interleukin 4 ◽

Food Allergies ◽

Control Group ◽

Allergic Reactions ◽

Healthy Children ◽

Clinical Criteria ◽

Immunological Markers

The aim of the research was to investigate the spectrum of food sensitization, followed by the determination of the main clinical criteria and immunological markers of food allergy in children with gastroduodenal pathology and atopic dermatitis. Materials and methods: We conducted a comprehensive clinical and immunological examination of 120 children aged from 6 to 15 years with gastroduodenal pathology (group 1; n = 64) and atopic dermatitis (group 2; n = 56), who had a history of adverse allergic reactions to food. The control group consisted of 22 apparently healthy children. Results: In the group of children with gastroduodenal pathology, the spectrum of the most common significant food allergens was represented by legumes, the reaction to which was observed in 25 (39.1%) subjects, eggs (25.0%) and fish (23.4%), which were found in every fourth child. Among patients with atopic dermatitis, the leading positions were occupied by fruits, which were registered in 20 (35.7%) children, nuts – in 15 (26.8%), honey and vegetables – in 11 (19.6%) children, respectively. The study of immunological status in comparison with the control group revealed reliable increases in pro-inflammatory T-helper-2 cytokines – interleukin-4 and chemokine TARC/CCL-17 and a simultaneous decrease in anti-inflammatory interleukin-10 in children of the 1st and 2nd groups who had gastrointestinal and skin manifestations of allergic reactions when eating food products. Conclusions: The study of peculiarities of adverse reactions to food in the examined children allowed us to identify specific clinical criteria and immunological markers of food allergy, which had certain features depending on the skin or gastrointestinal manifestations.

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