scholarly journals Association of IL13R Alpha 1 + 1398A/G Polymorphism in a North Indian Population with Asthma: A Case-Control Study

2015 ◽  
Vol 6 (2) ◽  
pp. ar.2015.6.0126
Author(s):  
Shweta Sinha ◽  
Jagtar Singh ◽  
Surinder Kumar Jindal ◽  
Niti Birbian
Keyword(s):  
Indian Population ◽  
Immunoglobulin E ◽  
Airway Hyperreactivity ◽  
Total Serum ◽  
North Indian Population ◽  
Increased Risk ◽  
Asthma Patients ◽  
Polymerase Chain ◽  
Control Study

Background Interleukin 13 (IL13) is directly involved in the secretion of total serum immunoglobulin E (IgE), which plays a major role in the asthma pathogenesis. Objective One of the polymorphic receptor of IL13 is IL13Rα1, which after binding to IL13, initiates signal transduction that results in mucin secretion, airway hyperreactivity, fibrosis, and chitinase up-regulation, which increases asthma risk. Methods In the present study, the role of IL13Rα1 + 1398A/G gene polymorphisms in asthma was detected with a total of 964 individuals, including 483 healthy controls and 481 asthma patients from a North Indian population using polymerase chain reaction-restriction fragment length polymorphism method. Results Statistical analysis revealed that the mutant allele (G) is predominant in asthma patients (42.7%) than the controls (38.2%), which shows an increased risk toward asthma with odds ratio = 1.21, 95% confidence interval (1.00 −1.45), χ2 = 4.10 and p = 0.043. Furthermore, the phenotypic characteristics also reveal a significant association with the disease (p < 0.05). Conclusions This is the first study conducted in India and + 1398A/G polymorphism in noncoding region of IL13Rα1 confer risk toward asthma in the studied population.

Variation at Interleukin-10 Locus Represents Susceptibility to Psoriasis in North Indian Population

2019 ◽  
Vol 19 (1) ◽  
pp. 53-58 ◽  
Author(s):  
Wani Aadil ◽  
Rajinder Kaur ◽  
Bashir Ahmad Ganai ◽  
Tahseena Akhtar ◽  
Tarun Narang ◽  
...  
Keyword(s):  
Indian Population ◽  
Significant Risk ◽  
Serum Levels ◽  
Interleukin 10 ◽  
North Indian Population ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Anti Inflammatory Cytokine ◽  
Psoriasis Severity

Background: IL-10 is an important pleiotropic, immunoregulatory and anti-inflammatory cytokine which plays a significant role in the pathogenesis of psoriasis. Objective: The aim of the present study was to determine whether the three polymorphic sites of the IL-10 gene, haplotype and serum level confer susceptibility to psoriasis. Method: 200 psoriatic patients and 200 controls were genotyped for three IL-10 polymorphic sites by ARMS polymerase chain reaction. Serum levels of IL -10 were measured by ELISA. Results: Our results demonstrated that polymorphism of IL-10 -592 C/A (adjusted* OR = 9.25; 95% CI =3.16- 27.06) and IL-10 1082 A/G (adjusted* OR = 4.28; (95% CI =1.46- 12.56) was found to be in association with increased risk of psoriasis while as IL- 10 819 C/T (adjusted* OR= 1.60; (95% CI = 0.65-3.95) polymorphism does not show any significant association with the risk of psoriasis. HT7 GTC haplotype is associated with increased risk of psoriasis. Serum levels of IL-10 were found to be significantly low in patients, as compared to controls with a non-significant correlation between serum IL-10 level and psoriasis severity. Conclusion: IL-10 polymorphism imparted significant risk towards the development of psoriasis in North Indian population. Highlighting the role of IL-10 cytokine in the pathogenesis of psoriasis will help in the development of psoriasis management.

scholarly journals Single nucleotide polymorphism of bone morphogenetic protein 4 gene: A risk factor of non-syndromic cleft lip with or without palate

2015 ◽  
Vol 48 (02) ◽  
pp. 159-164 ◽  
Author(s):  
Sathyaprasad Savitha ◽  
S. M. Sharma ◽  
Shetty Veena ◽  
R. Rekha
Keyword(s):  
Bone Morphogenetic Protein ◽  
Cleft Lip ◽  
Paediatric Population ◽  
Single Nucleotide ◽  
Morphogenetic Protein ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Bmp Signalling ◽  
Control Study

ABSTRACT Background: The bone morphogenetic protein (BMP) signalling pathway is crucial in a number of developmental processes and is critical in the formation of variety of craniofacial elements including cranial neural crest, facial primordium, tooth, lip and palate. It is an important mediator in regulation of lip and palate fusion, cartilage and bone formation. Aim: To study the role of mutation of BMP4 genes in the aetiology of non-syndromic cleft lip with or without palate (NSCL ± P) and identify it directly from human analyses. Materials and Methods: A case-control study was done to evaluate whether BMP4T538C polymorphism, resulting in an amino acid change of Val=Ala (V152A) in the polypeptide, is associated with NSCL ± P in an Indian paediatric population. Genotypes of 100 patients with NSCL ± P and 100 controls (in whom absence of CL ± P was confirmed in three generations) were detected using a polymerase chain reaction-restriction fragment length polymorphism strategy. Logistic regression was performed to evaluate allele and genotype association with NSCLP. Results: Results showed significant association between homozygous CC genotype with CL ± P (odds ratio [OR]-5.59 and 95% confidence interval [CI] = 2.85-10.99). The 538C allele carriers showed an increased risk of NSCL ± P as compared with 538 T allele (OR - 4.2% CI = 2.75-6.41). Conclusion: This study suggests an association between SNP of BMP4 gene among carriers of the C allele and increased risk for NSCLP in an Indian Population. Further studies on this aspect can scale large heights in preventive strategies for NSCLP that may soon become a reality.

Respiratory Manifestations of Food Allergy

PEDIATRICS ◽  
2003 ◽  
Vol 111 (Supplement_3) ◽  
pp. 1625-1630
Author(s):  
John M. James
Keyword(s):  
Food Allergy ◽  
Respiratory Tract ◽  
Immunoglobulin E ◽  
Food Additives ◽  
Airway Hyperreactivity ◽  
Severe Atopic Dermatitis ◽  
Increased Risk ◽  
Food Particles ◽  
Food Challenges

Food allergy may present with a variety of respiratory tract symptoms that generally involve immunoglobulin E antibody-mediated responses. Exposure is typically through ingestion, but in some cases, inhalation of airborne food particles may trigger these reactions. Upper and lower respiratory tract reactions are often a significant component of multisystem, anaphylactic reactions. However, chronic or isolated asthma or rhinitis induced by food is unusual. It is important to recognize that food allergy in early childhood is a marker indicating an increased risk to develop respiratory allergy. The role of food allergy in otitis media is controversial and probably is extremely rare. Likewise, asthmatic responses to food additives can occur but are uncommon. Studies using blinded oral food challenges have demonstrated that foods can elicit airway hyperreactivity and asthmatic responses. Therefore, an evaluation for food allergy should be considered in patients who are at risk, including those with recalcitrant or otherwise unexplained acute, severe asthma exacerbations, asthma triggered after ingestion of particular foods, and asthma that is accompanied by other manifestations of food allergy (eg, anaphylaxis, moderate to severe atopic dermatitis).

scholarly journals The Association of IgE Levels with ADAM33 Genetic Polymorphisms among Asthmatic Patients

2021 ◽  
Vol 11 (5) ◽  
pp. 329
Author(s):  
Malek Zihlif ◽  
Amer Imraish ◽  
Baeth Al-Rawashdeh ◽  
Aya Qteish ◽  
Raihan Husami ◽  
...  
Keyword(s):  
Genetic Polymorphisms ◽  
Immunoglobulin E ◽  
Allergic Diseases ◽  
Total Serum ◽  
P Value ◽  
Asthmatic Patients ◽  
Minor Alleles ◽  
Adults And Children ◽  
Polymerase Chain ◽  
Control Study

Total serum immunoglobulin E (IgE) is elevated in multiple allergic diseases and is considered a good predictor of atopy. Several studies have been performed on the association of IgE levels with the polymorphism of the ADAM33 gene in asthmatic patients. The aim of this study was to determine whether there is an association between IgE levels and the genetic polymorphisms of the ADAM33 gene (T1, T2, T + 1, V4, S1, S2, and Q-1) in both healthy and asthmatic patients among Jordanians. The clinical data were collected for this case–control study from 267 asthmatic patients and 225 control subjects. Seven genetic polymorphisms (T1, T2, T + 1, V4, S1, S2, and Q-1) of the gene ADAM33 were analyzed using the polymerase chain reaction/restriction fragment length polymorphism method. The minor alleles (G) of T1, (A) of T2, T + 1, and (G) of V4 polymorphisms were associated with a significant increase in total serum IgE levels in adults but not children. The V4 genetic polymorphism, however, showed a significant association with IgE levels in both adults and children. The S1 polymorphism was significantly associated with the codominant module only in the adults. The S2 polymorphism showed a significant association (p-value < 0.05) in both codominant and recessive models. However, in the dominant model for both pediatric control and asthmatic patients, the association between the IgE and S2 polymorphism was insignificant (p-value = 0.7271 and 0.5259, respectively). This study found a statistically significant association between multiple ADAM33 genetic polymorphisms and IgE levels. Such findings add to the growing evidence that the ADAM33 gene has a major impact on IgE levels among asthmatic patients of Jordanian origin.

scholarly journals Investigating Association of rs5918 Human Platelets Antigen 1 and rs1800790 Fibrinogen β Chain as Critical Players with Recurrent Pregnancy Loss

2018 ◽  
Vol 6 (4) ◽  
pp. 98 ◽  
Author(s):  
Fatemeh Karami ◽  
Maliheh Askari ◽  
Mohammad Modarressi
Keyword(s):  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Human Platelets ◽  
P Value ◽  
Increased Risk ◽  
History Of ◽  
Polymerase Chain ◽  
Β Chain ◽  
Larger Sample

Thrombophilia gene variants have been shown to be associated with higher risk of recurrent pregnancy loss (RPL). Due to the role of human platelets antigen 1 (HPA-1) and fibrinogen β chain (FGB) as critical players in the coagulation process, their most important variants including rs5918 T > C and rs1800790 G > A were selected to be studied in women affected by RPL. Three milliliters of peripheral blood were drawn from 110 women with history of at least two consecutive spontaneous abortion and 110 healthy women controls. rs5918 T > C and rs1800790 G > A of HPA-1 and FGB genes, respectively, were selected to be analyzed through polymerase chain reaction-restriction fragment length polymorphism (PCR_RFLP) following DNA isolation using QIAamp DNA Blood Mini Kit. Heterozygote genotype (TC) of HPA-1 gene rs5918 polymorphism was significantly associated with risk of RPL (p-value = 0.02). Although, rs1800790 G > A of FGB gene was not associated with RPL, its combination with rs5918 polymorphism was associated with increased risk of RPL. Owing to the critical roles of FGB and HPA-1 genes in coagulation, and thrombosis and several confinements on the meaningful association between the combination of those polymorphism with risk of RPL, including them in the thrombophilia panel may increase detection rate of hereditary thrombophilia patients. However, further studies with larger sample sizes are required to shed light on the exact role of the studied gene polymorphism, especially rs1800790 G > A of FGB gene variant in pathogenesis of RPL.

scholarly journals The association between Interleukin-6 rs1800795/rs1800797 polymorphisms and risk of rotator cuff tear in a Chinese population

2020 ◽  
Vol 40 (4) ◽  
Author(s):  
Jin Li ◽  
Lifeng Jiang ◽  
Xindie Zhou ◽  
Lidong Wu ◽  
Dong Li ◽  
...  
Keyword(s):  
Rotator Cuff ◽  
Rotator Cuff Tear ◽  
Constant Score ◽  
Enzyme Linked Immunosorbent Assay ◽  
Mutant Genotype ◽  
Cuff Tear ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Tear Size

Abstract Expression of proinflammatory cytokines, such as interleukin (IL)-6 (IL-6) and metalloproteases, are elevated in patients with rotator cuff tear (RCT). In order to investigate the role of IL-6 gene polymorphisms on RCT risk, we genotyped two SNPs on IL-6 gene (rs1800795 and rs1800797) in 138 RCT patients and 137 healthy controls using polymerase chain reaction (PCR) and Sanger sequencing. The IL-6 expression in shoulder joint synovial fluid was determined by using enzyme-linked immunosorbent assay (ELISA) method. The constant score and visual analog scale (VAS) were used to evaluate the clinical outcome of two s (surgicsal vs. conservative) for RCT patients. For rs1800795, individuals with the GG genotype or G allele had significantly higher risk of RCT. Elevated risk of tear size was associated with the GG genotype of the rs1800795 polymorphism. The IL-6 rs1800797 polymorphism was also associated with an increased risk of RCT, especially among female, drinkers, and individuals with B(MI) &lt; 25 kg/m2. The elevated levels of IL-6 gene were observed among the mutant genotype of rs1800795/rs1800797 polymorphism. Surgical group is significantly better than conservative treatment from the perspective of constant score and VAS. Furthermore, CG genotype of rs1800795 polymorphism increased the constant score at 6 months in comparison with CC genotype. In conclusion, our study supports a role of IL-6 rs1800795/rs1800797 polymorphisms on increased RCT risk. The RCT patients with CG genotype of rs1800795 polymorphism have more obvious surgical treatment effects by influencing the IL-6 expression.

Lack of Identifiable Risk Factors for Kernicterus

PEDIATRICS ◽  
1980 ◽  
Vol 66 (4) ◽  
pp. 502-506 ◽  
Author(s):  
Susan Beckwitt Turkel ◽  
Marta E. Guttenberg ◽  
Diane Radovich Moynes ◽  
Joan E. Hodgman
Keyword(s):  
Risk Factors ◽  
Birth Weight ◽  
Premature Infants ◽  
Serum Bilirubin ◽  
Matched Control ◽  
Total Serum ◽  
Clinical Factors ◽  
Factors Associated ◽  
Increased Risk ◽  
Control Study

In recent years kernicterus at autopsy has been observed in sick premature infants in the absence of markedly elevated levels of serum bilirubin. Potentiating factors have been suggested to explain kernicterus in such a setting. In order to establish which factors are associated with increased risk for kernicterus in these small babies, this retrospective matched control study was undertaken. Thirty-two infants with kernicterus at autopsy were matched for gestational age, birth weight, length of survival, and year of birth to 32 control infants without kernicterus. Multiple historical, clinical, and laboratory factors were compared, including therapy, sepsis, hypothermia, asphyxia as reflected by Apgar score, hematocrit, acidosis, hypercarbia, hypoxia, hypoglycemia, and hyperbilirubinemia. No statistically significant differences between the kernicteric and nonkernicteric infants were demonstrated for any of these factors, including peak total serum bilirubin levels. Multivariant analysis also failed to determine a group of factors associated with increased risk for kernicterus. It was not possible to separate those infants with and without kernicterus at autopsy on the basis of the clinical factors evaluated.

Serum FGF-21 and FGF-23 in association with gestational diabetes: a longitudinal case-control study

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Maryam Mosavat ◽  
Siti Zawiah Omar ◽  
Pavai Sthanshewar
Keyword(s):  
Gestational Diabetes ◽  
Case Control Study ◽  
Normal Glucose Tolerance ◽  
Fundamental Factor ◽  
Increased Risk ◽  
Normal Glucose ◽  
Fgf 23 ◽  
Control Study ◽  
In Pregnancy

AbstractBackgroundFibroblast growth factors (FGFs); FGF-21 and FGF-23, have been proposed to be associated with metabolic syndrome. However, data on the role of these peptides in gestational diabetes mellitus (GDM) are limited. Therefore, this study was designed to assess the association of serum FGF-21 and FGF-23 with the risk of GDM. Furthermore, we evaluated the circulation of these peptides in pregnancy and post-puerperium.Materials and methodsFifty-three pregnant subjects with GDM and 43 normal glucose tolerance (NGT) pregnant women participated in this study. Serum FGF-21 and FGF-23 were measured during pregnancy and post-puerperium.ResultsFGF-21 and FGF-23 were low in GDM compared to NGT during pregnancy. There were no significant differences in the level of these peptides post-puerperium. Using logistic regression, FGF-23 [odds ratio (OR) 0.70 (95% confidence interval [CI]: 0.50–0.96)] was inversely associated with GDM, so a 1-μg/mL decrease in FGF-23 levels was associated with a 1.4-fold increased risk of developing GDM and this remained statistically significant after adjustment for confounders [adjusted OR (aOR) 0.70 (95% CI: 0.50–0.98)]. There was no association of FGF-21 with the development of GDM risk.ConclusionsLower FGF-23 concentrations could be involved in the pathophysiology of GDM. FGF-21, even though associated with metabolic risk factors in pregnancy, may not be a fundamental factor in GDM.

Sign in / Sign up

Export Citation Format

Share Document