scholarly journals MyD88Polymorphisms and Association with Susceptibility to Salmonella Pullorum

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Xian-Qing Liu ◽  
Fei Wang ◽  
Jie Jin ◽  
Yu-Guang Zhou ◽  
Jin-Shan Ran ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Interleukin 1 ◽  
Primary Response ◽  
Future Research ◽  
Nucleotide Polymorphisms ◽  
Coding Region ◽  
Control Groups ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
Salmonella Pullorum

Myeloid differentiation primary response gene 88 (MYD88), a universal adapter protein, plays an important role in activating the nuclear factor-κB (NF-κB) and regulating the expression of proinflammatory genes like tumor necrosis factor (TNF) and interleukin-1 (IL-1), which were highly involved in Salmonella Pullorum infection. To detect the relationship between polymorphisms of theMyD88gene and Salmonella Pullorum disease, we screened the coding region (CDS) of theMYD88gene by DNA pool construction and sequencing based on case-control study. Eight single nucleotide polymorphisms (SNPs) in the sequenced fragment (5 exons), 7 known loci and one novel mutation named G4810372T (SNP8), were found in the fifth exon. In addition, we found 7 nonsynonymous substitutions. The allele frequency of only one SNP, g.4810191C > T (SNP1), was significantly different (P<0.05) between case and control groups. The genotype frequencies of SNP1 (g.4810191C > T) and SNP3 (g.4810257G > T) were of significant difference between the case and the control groups (P<0.05). Collectively, SNPs of theMyD88gene were significantly associated with susceptibility to Salmonella Pullorum infection, which can be used as a disease-resistant marker in chicken. These results provided a theoretical basis for future research on chicken breeding by marker-assisted selection.

scholarly journals Polymorphism Detection of GDF9 Gene and Its Association with Litter Size in Luzhong Mutton Sheep (Ovis aries)

Animals ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 571
Author(s):  
Fengyan Wang ◽  
Mingxing Chu ◽  
Linxiang Pan ◽  
Xiangyu Wang ◽  
Xiaoyun He ◽  
...  
Keyword(s):  
Litter Size ◽  
Tertiary Structure ◽  
Novel Mutation ◽  
Major Gene ◽  
Ovis Aries ◽  
Nucleotide Polymorphisms ◽  
Economic Traits ◽  
Coding Region ◽  
Association Analyses ◽  
Gdf9 Gene

Litter size is one of the most important economic traits in sheep. GDF9 and BMPR1B are major genes affecting the litter size of sheep. In this study, the whole coding region of GDF9 was sequenced and all the SNPs (single nucleotide polymorphisms) were determined in Luzhong mutton ewes. The FecB mutation was genotyped using the Sequenom MassARRAY®SNP assay technology. Then, the association analyses between polymorphic loci of GDF9 gene, FecB, and litter size were performed using a general linear model procedure. The results showed that eight SNPs were detected in GDF9 of Luzhong mutton sheep, including one novel mutation (g.41769606 T > G). The g.41768501A > G, g.41768485 G > A in GDF9 and FecB were significantly associated with litter size in Luzhong mutton ewes. The g.41768485 G > A is a missense mutation in the mature GDF9 protein region and is predicted to affect the tertiary structure of the protein. The results preliminarily demonstrated that GDF9 was a major gene affecting the fecundity of Luzhong mutton sheep and the two loci g.41768501A > G and g.41768485 G > A may be potential genetic markers for improving litter size.

scholarly journals Evaluation of PECAM-1 Gene Polymorphism in Patients with Periodontal Disease and Healthy Individuals

2012 ◽  
Vol 2012 ◽  
pp. 1-5
Author(s):  
Mahdi Kdkhodazadeh ◽  
Mehrdad Hajilooi ◽  
Behzad Houshmand ◽  
Sara Khazaei ◽  
Leila Gholami ◽  
...  
Keyword(s):  
Chronic Periodontitis ◽  
Aggressive Periodontitis ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Healthy Individuals ◽  
Single Nucleotide ◽  
Genotypic Distribution ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
Polymerase Chain

Objective. Our aim in this paper was to investigate the possible genetic association between three Ser563Asn, Leu125Val and Arg670Gly polymorphisms of the PECAM-1 gene and periodontitis. Methods. Genomic DNA was isolated from whole blood of 105 periodontal patient (52 with chronic periodontitis and 53 with aggressive periodontitis) and 101 healthy individuals. Samples were genotyped and analyzed for the three single-nucleotide polymorphisms (SNPs) of PECAM-1 using polymerase chain reaction with sequence-specific primers (PCR-SSPs). Results. A statistically significant difference was found between the genotypic distribution of the Ser563Asn polymorphism in patients with periodontitis compared to controls (P=0.02). But there were no statistically significant difference between the allele frequencies in the different groups (P=0.05). The other two polymorphisms did not show a statistically significant difference in their allele and genotype frequencies between the groups. There was no statistically significant difference found for any of the polymorphisms allele and genotype distribution in aggressive and chronic periodontitis either. Conclusions. No significant association was found between the polymorphism tested and the subgroups of periodontitis, further research is still necessary to determine whether this polymorphism can be used as a genetic marker of periodontitis.

scholarly journals Association of ENAM, TUFT1, MMP13, IL1B, IL10 and IL1RN gene polymorphism and dental caries susceptibility in Chinese children

2019 ◽  
Vol 47 (4) ◽  
pp. 1696-1704 ◽  
Author(s):  
Xiao-Pan Hu ◽  
Tian-Zhu Song ◽  
Yan-Yan Zhu ◽  
Ling-Li Wu ◽  
Xuan Zhang ◽  
...  
Keyword(s):  
Dental Caries ◽  
Interleukin 1 ◽  
Saliva Sample ◽  
Northwest China ◽  
Interleukin 10 ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Significant Difference ◽  
Dental Caries Susceptibility ◽  
Matrix Metallopeptidase

Objective To investigate the association between single nucleotide polymorphisms (SNPs) in six candidate genes (enamelin [ ENAM]; tuftelin 1 [ TUFT1]; matrix metallopeptidase 13 [ MMP13]; interleukin 1 beta [ IL1B]; interleukin 10 [ IL10]; interleukin 1 receptor antagonist [ IL1RN]) and dental caries in children from northwest China. Methods This case–control study enrolled children (12–15 years) who underwent routine dental examinations. The children were divided into two groups based on the presence of dental caries. A saliva sample was collected and seven SNPs (rs3806804A/G in ENAM, rs3811411T/G in TUFT1, rs2252070A/G and rs597315A/T in MMP13, rs1143627C/T in IL1B, rs1800872A/C in IL10 and rs956730G/A in IL1RN) were genotyped. Results A total of 357 children were enrolled in the study: 161 with dental caries and 196 without dental caries. No significant difference was found in the alleles and genotypes of five genes ( ENAM, TUFT1, MMP13, IL10 and IL1RN) between those with and without dental caries. A significant relationship was found between the IL1B rs1143627C/T polymorphism and dental caries susceptibility with those carrying the rs1143627CT genotype having a lower risk of dental caries compared with those carrying the CC genotype (odds ratio 0.557; 95% confidence interval 0.326, 0.952). Conclusion The IL1B rs1143627C/T polymorphism may be associated with dental caries susceptibility in children from northwest China.

scholarly journals Association of Leptin Gene Polymorphisms with Rheumatoid Arthritis in a Chinese Population

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Sha-Sha Tao ◽  
Yi-Lin Dan ◽  
Guo-Cui Wu ◽  
Qin Zhang ◽  
Tian-Ping Zhang ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Chinese Population ◽  
Clinical Manifestations ◽  
Enzyme Linked Immunosorbent Assay ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
Plasma Leptin

Background. Recently, increasing studies have revealed that leptin is involved in the development of rheumatoid arthritis (RA). This study is aimed at exploring the association of leptin gene single nucleotide polymorphisms (SNPs) with susceptibility to RA in a Chinese population. Methods. We recruited 600 RA patients and 600 healthy controls from a Chinese population and analyzed their three leptin SNPs (rs10244329, rs2071045, and rs2167270) using the improved Multiplex Ligase Detection Reaction (iMLDR) assays. The associations of these SNPs with clinical manifestations of RA were also analyzed. Enzyme-linked immunosorbent assay (ELISA) was performed for plasma leptin determination. Results. No significant difference in either allele or genotype frequencies of these three SNPs between RA patients and healthy controls was observed (all P > 0.05 ). Association between the genotype effects of dominant, recessive models was also not found (all P > 0.05 ). No significant difference in plasma leptin levels was detected between RA patients and controls ( P > 0.05 ). Conclusion. Leptin gene (rs10244329, rs2071045, and rs2167270) polymorphisms are not associated with RA genetic susceptibility and its clinical features in the Chinese population.

Gen DRD2, TH y DTNBP1 y la sintomatología de pacientes ecuatorianos esquizofrénicos tratados con haloperidol. Caso Clínico.

2020 ◽  
Vol 1 (1) ◽  
Author(s):  
Fabián Porras-Borja ◽  
Camilo Pérez ◽  
Erickson Toscano ◽  
Paola E. Leone ◽  
Cesar Paz-y-Miño
Keyword(s):  
Negative Symptoms ◽  
Therapeutic Response ◽  
Scientific Evidence ◽  
Positive Symptom ◽  
Future Research ◽  
Nucleotide Polymorphisms ◽  
Drd2 Gene ◽  
Symptom Scale ◽  
Single Nucleotide ◽  
Significant Difference

Genetic variants of chemical neurotransmission have been associated with the development of schizophrenia. This is a syndromic mental disorder that affects the perception of reality and feelings of those affected. This disease is expressed in 1% of the world’s population; in all cases, antipsychotic drugs are used as treatment. Scientific evidence indicates that symptomatologic characteristics and therapeutic response has a genetic influence. The objective of the current work was to describe the presence or absence of allelic polymorphisms found on the dopamine gene and the therapeutic response of 11 Ecuadorian individuals treated with haloperidol (5mg.), for a period of 14 days. Single Nucleotide Polymorphisms (SNPs) in the DRD2, TH and DTNBP1 genes and evaluations recorded from the PANSS, BPRS and UKU scales were assessed. An association with a significance of P = 0.024 was found between the Taq1-B polymorphism on the DRD2 gene and the BPRS positive symptom scale; furthermore, an association with a significance of P = 0.045 was found with the PANSS negative symptoms scale. The absence of the Ser311Cys polymorphism on the DRD2 gene within the sample was also reported. In conclusion, it is noted that there is a statistically significant difference between the symptomatologic group, individuals with allele A / G SNP Taq1-B, and the group of individuals without the polymorphism. Even though the biological mechanisms behind this result are not understood, his study will serve as a basis for the development of future research related to this topic.

scholarly journals Variation in the Promoter Region of the MC4R Gene Elucidates the Association of Body Measurement Traits in Hu Sheep

2019 ◽  
Vol 20 (2) ◽  
pp. 240
Author(s):  
Girmay Shishay ◽  
Guiqiong Liu ◽  
Xunping Jiang ◽  
Yun Yu ◽  
Wassie Teketay ◽  
...  
Keyword(s):  
Promoter Region ◽  
Gene Promoter ◽  
Body Measurement ◽  
Nucleotide Polymorphisms ◽  
Coding Region ◽  
Mc4r Gene ◽  
Real Time Quantitative Pcr ◽  
Regulatory Variants ◽  
Significant Difference ◽  
Body Measurement Traits

The melanocortin 4 receptor (MC4R) gene is expressed in the appetite-regulating areas of the brain and is engaged in the leptin signaling pathway. Although previous studies have identified variants in the coding region of the sheep MC4R gene showing significant associations with birth weight, weaning weight, and backfat thickness, no such associations have been reported for the promoter region. Besides, the essential promoter region of the sheep MC4R has not been delineated. In this study, to better understand the transcriptional regulation of MC4R and to elucidate the association between regulatory variants and haplotypes with body measurement traits in sheep, we cloned and characterized the MC4R promoter. We found that the minimal promoter of the gene is located within the region −1207/−880 bp upstream of the first exon. Real-time quantitative PCR (RT-qPCR) data revealed the mRNA expression of the MC4R gene had a significant difference between sex and age. In the association analysis, eight single nucleotide polymorphisms (SNPs) had a significant association with one or more traits (p < 0.05); of these, two SNPs were novel. Notably, individuals with haplotype H1H2 (CT-GA-GT-GA-GT-GA-GA-CG) were heavier in body weight than other haplotypes. Altogether, variations in the MC4R gene promoter, most notably haplotype H1H2, may greatly benefit marker-assisted selection in sheep.

Single Nucleotide Polymorphisms in Carnosinase Genes (CNDP1 and CNDP2) are Associated With Power Athletic Status

2017 ◽  
Vol 27 (6) ◽  
pp. 533-542 ◽  
Author(s):  
João Paulo Limongi França Guilherme ◽  
Antonio Herbert Lancha
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Endurance Athletes ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Athletic Status ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
Minor Alleles ◽  
Representative Cohort

Carnosine (β-alanyl-L-histidine), abundantly found in skeletal muscle, plays an important role during exercise, especially for high-intensity contractions. Variability in muscle carnosine content between individuals exists and may also be explained by different genetic bases, although no study has addressed the association of polymorphisms in genes related to carnosine metabolism in athletes. This study aimed to investigate the frequency of single nucleotide polymorphisms (SNPs) in the carnosinase genes (CNDP1 and CNDP2) in a large Brazilian cohort of athletes and nonathletes. Eight SNPs were compared between a representative cohort of elite athletes from Brazil (n = 908) and a paired group of nonathletes (n = 967). The athletes were stratified into three groups: endurance (n = 328), power (n = 415), and combat (n = 165). The CNDP2 rs6566810 (A/A genotype) is overrepresented in endurance athletes, but only in international-level endurance athletes. Three SNPs (CNDP2 rs3764509, CNDP2-CNDP1 rs2346061, and CNDP1 rs2887) were overrepresented in power athletes compared with nonathletes. Carriers of the minor allele had an increased odds ratio of being a power athlete. For the rs2346061, no significant difference was observed in genotype frequencies between power and combat sports athletes, but for rs2887 the power and combat groups showed an inverse genotype distribution. In conclusion, we found that minor alleles carriers for CNDP2 rs3764509 (G-allele), CNDP2-CNDP1 rs2346061 (C-allele), and CNDP1 rs2887 (A-allele) are more likely to be a power athlete. These polymorphisms may be novel genetic markers for power athletes. Furthermore, these results are suggestive of a distinct CNDP genotype for sporting development.

scholarly journals See It – Do It – Learn It: Learning Interprofessional Collaboration in the Clinical Context

2010 ◽  
Vol 1 (2) ◽  
Author(s):  
Ruby Grymonpre ◽  
Cornelia (Kristel) Van Ineveld ◽  
Michelle Nelson ◽  
Fiona Jensen ◽  
Amy De Jaeger ◽  
...  
Keyword(s):  
Quality Of Care ◽  
Interprofessional Education ◽  
Intervention Group ◽  
Future Research ◽  
Control Groups ◽  
Clinical Placements ◽  
Significant Difference ◽  
And Control ◽  
Over Time

Background: The primary goal of the Interprofessional Education in Geriatric Care (IEGC) project was to design, deliver, and evaluate interprofessional (IP) clinical placements for pre-licensure learners in geriatric day hospitals.Methods: Project evaluation was guided by the modified Kirkpatrick's Model of Educational Outcomes. Using a controlled before-after design, the Attitudes Toward Health Care Teams Scale (ATHCTS), Team Skills Scale (TSS), and Knowledge Questionnaire were administered to intervention and control learners pre-, post-, and 6 months post clinical placements. Quantitative data were analyzed using descriptive and multivariate statistics. Qualitative data collected through journals and questionnaires were analyzed using content analysis.Findings: Eleven IP clinical placements occurred at 3 test sites involving 32 intervention and 11 control learner participants. There was no significant change, over time, in the ATHCTS quality of care and physician centrality scores for the combined group (i.e., intervention and control) and between intervention and control groups. Time effects were noted in the quality of care scores for the intervention group after controlling for prior IPE (p = .031). The Knowledge scores were higher for the intervention group compared with controls over time (p = .004). Both intervention and control groups demonstrated significant improvements in their TSS scores over time (p = .000), although there was no significant difference in the magnitude of the change between groups (p = .112). Themes observed through qualitative analysis of learners' journals and post-program reflective questionnaires supported the quantitative findings.Conclusions: The IEGC experience was valuable to senior pre-licensure learners in helping them understand collaborative patient-centred practice and team skills. Future research should strive for larger sample sizes through multi-site projects to allow for comparisons within and between clinical sites.

scholarly journals CLU Polymorphisms in Patients with Pseudoexfoliation Syndrome in Polish Population

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Hanna Lesiewska ◽  
Katarzyna Linkowska ◽  
Joanna Stafiej ◽  
Tomasz Grzybowski ◽  
Jacek Swobodziński ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Disease State ◽  
Pseudoexfoliation Syndrome ◽  
Polish Population ◽  
Control Groups ◽  
Control Subjects ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
And Control

Purpose. To evaluate CLU polymorphisms in patients with pseudoexfoliation syndrome. Materials and Methods. We studied 81 patients (23 males and 58 females, the median age 76 years) and 91 control subjects (27 males and 64 females, the median age 75 years). Genotypes of the CLU polymorphisms (SNPs), rs3087554 and rs2279590, were determined using a commercially available validated genotyping assays. The χ2 test was performed to compare patient and control groups for possible associations between SNP genotype/allele frequency and disease state. Results. There were no significant differences for both allele and genotype frequencies between PEX patients and controls for rs3087554 and rs2279590 polymorphisms. The haplotypes distribution shows statistically significant difference between groups p=0.03. The haplotype (CT) more often was found in controls than in PEX patients, conferring an 18-fold decreased risk to the disease. Conclusion. Our results indicate that CLU variants may contribute to the risk of PEX in the Polish population.

scholarly journals Single Nucleotide Polymorphism in the IL17A Gene Is Associated with Interstitial Lung Disease Positive to Anti-Jo1 Antisynthetase Autoantibodies

Life ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 174
Author(s):  
Marco Antonio Ponce-Gallegos ◽  
Montserrat I. González-Pérez ◽  
Mayra Mejía ◽  
Karol J. Nava-Quiroz ◽  
Gloria Pérez-Rubio ◽  
...  
Keyword(s):  
Creatine Phosphokinase ◽  
Case Group ◽  
Nucleotide Polymorphisms ◽  
Antisynthetase Syndrome ◽  
Bonferroni Correction ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
Aminoacyl Transfer

Antisynthetase syndrome (ASSD) is a rare multisystemic connective tissue disease affecting the skin, joints, muscles, and lungs, characterized by anti-aminoacyl transfer-RNA-synthetases (anti-tRNA) autoantibodies production, being anti-Jo1 the most frequent. We included one-hundred twenty-one ASSD patients and 340 healthy subjects (HS), and also, we divided the case group into anti-Jo1 and non-anti-Jo1. Two single nucleotide polymorphisms (SNPs) in the IL17A gene were evaluated. Anti-Jo1 was the most common anti-tRNA antibody in our cohort, and the most frequent tomographic pattern was non-specific interstitial pneumonia (NSIP). Anti-Jo1 ASSD patients had higher levels of creatine phosphokinase than the non-anti-Jo1 group. Significant differences in genotype frequencies with rs8193036/CC between anti-Jo1 vs. non-anti-Jo1 ASSD patients (p < 0.001), maintaining the association after Bonferroni correction (p = 0.002). Additionally, in the anti-Jo1 group vs. HS comparison, we found a statistically significant difference with the same SNP (p = 0.018, OR = 2.91, 95% CI = 1.15–7.35), maintaining the association after Bonferroni correction (p = 0.036). The rs8193036/CC genotype in IL17A is associated with ASSD patients with anti-Jo1. Also, anti-Jo1 and non-anti-Jo1 patients display differences in genotype frequencies.

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