scholarly journals The association between interferon lambda 3 and 4 gene single-nucleotide polymorphisms and the recovery of COVID-19 patients

2021 ◽  
Vol 18 (1) ◽  
Author(s):  
Pooneh Rahimi ◽  
Rahil Tarharoudi ◽  
Alireza Rahimpour ◽  
Jalal Mosayebi Amroabadi ◽  
Iraj Ahmadi ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Genetic Factors ◽  
Clinical Parameters ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Interferon Lambda ◽  
Ct Value ◽  
Host Genetic ◽  
Interferon Lambda 3 ◽  
Host Genetic Factors

Abstract Background The recent pandemic caused by severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) has elevated several clinical and scientific questions. These include how host genetic factors influence the pathogenesis and disease susceptibility. Therefore, the aim of this study was to evaluate the impact of interferon lambda 3 and 4 (IFNL3/4) gene polymorphisms and clinical parameters on the resistance and susceptibility to coronavirus disease 2019 (COVID-19) infection. Methods A total of 750 SARS-CoV-2 positive patients (375 survivors and 375 nonsurvivors) were included in this study. All single-nucleotide polymorphisms (SNPs) on IFNL3 (rs12979860, rs8099917, and rs12980275) and IFNL4 rs368234815 were genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) method. Results In this study, a higher viral load (low PCR Ct value) was shown in nonsurvivor patients. In survivor patients, the frequency of the favorable genotypes of IFNL3/4 SNPs (rs12979860 CC, rs12980275 AA, rs8099917 TT, and rs368234815 TT/TT) was significantly higher than in nonsurvivor patients. Multivariate logistic regression analysis has shown that a higher low-density lipoprotein (LDL), erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and PCR Ct value, and lower 25-hydroxyvitamin D, and also IFNL3 rs12979860 TT, IFNL3 rs8099917 GG, IFNL3 rs12980275 GG, and IFNL4 rs368234815 ∆G/∆G genotypes were associated with the severity of COVID-19 infection. Conclusions The results of this study proved that the severity of COVID-19 infection was associated with clinical parameters and unfavorable genotypes of IFNL3/IFNL4 SNPs. Further studies in different parts of the world are needed to show the relationship between severity of COVID-19 infection and host genetic factors.

scholarly journals Interleukin-16 Gene Polymorphisms Are Considerable Host Genetic Factors for Patients’ Susceptibility to Chronic Hepatitis B Infection

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Sara Romani ◽  
Seyed Masoud Hosseini ◽  
Seyed Reza Mohebbi ◽  
Shabnam Kazemian ◽  
Shaghayegh Derakhshani ◽  
...  
Keyword(s):  
Hepatitis B ◽  
Gene Polymorphisms ◽  
Genetic Factors ◽  
Hbv Infection ◽  
Polymorphism Analysis ◽  
Nucleotide Polymorphisms ◽  
Chronic Hbv Infection ◽  
Host Genetic ◽  
Chronic Hbv ◽  
Host Genetic Factors

Host genetic background is known as an important factor in patients’ susceptibility to infectious diseases such as viral hepatitis. The aim of this study was to determine the effect of genetic polymorphisms of interleukin-16 (IL-16) cytokine on susceptibility of hepatitis B virus (HBV) infected patients to develop chronic HBV infection. Genotyping was conducted using PCR followed by enzymatic digestion and RFLP (restriction fragment length polymorphism) analysis. We genotyped three single nucleotide polymorphisms (SNPs) in the Il-16 gene (rs11556218 T>G, rs4778889 T>C, and rs4072111 C>T) to test for relationship between variation at these loci and patients’ susceptibility to chronic HBV infection. Allele frequency of Il-16 gene rs4072111 and rs11556218 was significantly different between chronic HBV patients and healthy blood donors. Genotype frequency of rs4778889 polymorphism of Il-16 gene was significantly different when chronic HBV patients and HBV clearance subjects were compared. Our results showed that Il-16 gene polymorphisms are considerable host genetic factors when we chase biomarkers for prognosis of HBV infected patients.

scholarly journals Thr92Ala Polymorphism of Human Type 2 Deiodinase Gene (hD2) Affects the Development of Graves' Disease, Treatment Efficiency, and Rate of Remission

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Babenko Alina ◽  
Popkova Daria ◽  
Freylihman Olga ◽  
Solncev Vladislav ◽  
Kostareva Anna ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Genetic Factors ◽  
Clinical Symptoms ◽  
Graves Disease ◽  
Disease Development ◽  
Nucleotide Polymorphisms ◽  
Treatment Efficiency ◽  
Disease Treatment ◽  
Single Nucleotide

Clinical symptoms vary in thyrotoxicosis, and severity of these depends on many factors. Over the last years, impact of genetic factors upon the development and clinical significance of thyrotoxic symptoms became evident. It is known that a production of T3 in various tissues is limited by deiodinase 2 (D2). Recent studies revealed that certain single nucleotide polymorphisms (including threonine (Thr) to alanine (Ala) replacement in D2 gene codon 92, D2 Thr92Ala) affect T3 levels in tissues and in serum. Individuals with Ala92Ala genotype have lower D2 activity in tissues, compared with that in individuals with other genotypes. In our study, we have assessed an association of D2 Thr92Ala polymorphism with (1) frequency of disease development, (2) severity of clinical symptoms of thyrotoxicosis, and (3) rate of remissions, in Graves' disease patients.

scholarly journals IL1RL1 single nucleotide polymorphisms are associated with asthma in the Iranian population

2021 ◽  
Author(s):  
Maral Ranjbar ◽  
Mojdeh Matloubi ◽  
Shaghayegh Sadegh ◽  
Morteza Fallahpour ◽  
Leila Janani ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Genetic Factors ◽  
Inflammatory Responses ◽  
Interleukin 1 ◽  
Positive Association ◽  
Iranian Population ◽  
Total Serum ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Prick Test

Asthma is a chronic and multifactorial disease which is known to result from environmental and genetic factors. Interleukin 1 receptor-like 1 (IL1RL1) is a receptor, which promotes inflammatory responses after binding to its ligand IL-33. Several studies have shown that IL1RL1 gene polymorphisms are related to susceptibility or protection to asthma. The objective of this study was to evaluate the association between two IL1RL1 single nucleotide polymorphisms (rs10208293 and rs1041973) and the risk of asthma in the Iranian population. We performed genotyping of the IL1RL1 SNPs in 126 adult asthmatics and 300 healthy controls using TaqMan genotyping assay. Moreover, total serum IgE level, eosinophil count, and skin prick test were accomplished. The results indicated that the AA genotype of rs10208293 was positively associated with asthma susceptibility (p=0.028). We did not find any association between rs1041973 and asthma. Overall, our findings indicate that rs10208293 has a positive association with asthma in the Iranian population.

Analysis of single-nucleotide polymorphisms associated with an increased risk of immune reconstitution inflammatory syndrome in patients with tuberculosis and HIV

2021 ◽  
Vol 19 (1) ◽  
pp. 97-104
Author(s):  
A.Yu. Bukharina ◽  
◽  
K.O. Mironov ◽  
V.N. Zimina ◽  
◽  
...  
Keyword(s):  
Antiretroviral Therapy ◽  
Single Nucleotide Polymorphisms ◽  
Immune Reconstitution Inflammatory Syndrome ◽  
Immune Reconstitution ◽  
Genetic Factors ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Inflammatory Syndrome ◽  
Late Stages

Tuberculosis immune reconstitution inflammatory syndrome (TB-IRIS) is the development or progression of tuberculosis associated with restoration of active immune response to mycobacteria following the initiation of antiretroviral therapy in HIVinfected patients. The incidence of TB-IRIS is 18% with mortality reaching 2%. Investigation of TB-IRIS in Russia is very important, since the prevalence of TB coinfection is common among HIV-infected patients; in addition to that, HIV is often detected at late stages characterized by severe immunosuppression, which increases the risk of TB-IRIS. This review focuses on single-nucleotide polymorphisms and some other genetic factors associated with an increased risk of TB-IRIS. Key words: antiretroviral therapy, HIV infection, genetic predisposition, single-nucleotide polymorphisms, TB-IRIS, tuberculosis, gene expression

THU-281-Single nucleotide polymorphisms associated with no interferon lambda 4 production are associated with reduced mortality in alcoholic hepatitis

2019 ◽  
Vol 70 (1) ◽  
pp. e286
Author(s):  
Sidsel Støy ◽  
Ewa Terczynska-Dyla ◽  
Sanne Skovgård Veidal ◽  
Kristoffer Rigbolt ◽  
Hendrik Vilstrup ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Alcoholic Hepatitis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Interferon Lambda

scholarly journals Genome-wide analysis of thyroid function in Australian adolescents highlights SERPINA7 and NCOA3

2021 ◽  
Author(s):  
James Nolan ◽  
Purdey J Campbell ◽  
Suzanne J Brown ◽  
Gu Zhu ◽  
Scott Gordon ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Thyroid Function ◽  
Association Analysis ◽  
Genetic Factors ◽  
Meta Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genome Wide Analysis ◽  
Genome Wide ◽  
A Genome

Objective Genetic factors underpin the narrow intraindividual variability of thyroid function, although precise contributions of environmental versus genetic factors remain uncertain. We sought to clarify the heritability of thyroid function traits and thyroid peroxidase antibody (TPOAb) positivity and identify single nucleotide polymorphisms (SNPs) contributing to the trait variance. Methods Heritability of thyroid stimulating hormone (TSH), free T4 (fT4), free T3 (fT3) and TPOAb in a cohort of 2854 euthyroid, dizygous and monozygous twins (age range 11.9-16.9 years) from the Brisbane Longitudinal Twin Study (BLTS) was assessed using structural equation modelling. A genome-wide analysis was conducted on 2832 of these individuals across 7,522,526 single nucleotide polymorphisms as well as gene-based association analyses. Replication analysis of the association results was performed in the Raine Study (n= 1115) followed by meta-analysis to maximise power for discovery. Results Heritability of thyroid function parameters in the BLTS was 70.8% (95% CI: 66.7-74.9%) for TSH, 67.5% (59.8-75.3%) for fT4, 59.7% (54.4-65.0%) for fT3 and 48.8% (40.6-56.9%) for TPOAb. The genome-wide association study (GWAS) in the discovery cohort identified a novel association between rs2026401 upstream of NCOA3 and TPOAb. GWAS meta-analysis found associations between TPOAb and rs445219, also near NCOA3, and fT3 and rs12687280 near SERPINA7. Gene-based association analysis highlighted SERPINA7 for fT3 and NPAS3 for fT4. Conclusion Our findings resolve former contention regarding heritability estimates of thyroid function traits and TPOAb positivity. GWAS and gene-based association analysis identified variants accounting for a component of this heritability.

scholarly journals The correlation of salivary telomere length and single nucleotide polymorphisms of the ADIPOQ, SIRT1 and FOXO3A genes with lifestyle-related diseases in a Japanese population

PLoS ONE ◽  
2021 ◽  
Vol 16 (1) ◽  
pp. e0243745
Author(s):  
Xiao Han ◽  
Ryo Kubota ◽  
Ken-ichi Tanaka ◽  
Hiroyuki Hayashi ◽  
Miyuki Seki ◽  
...  
Keyword(s):  
Risk Factors ◽  
Single Nucleotide Polymorphisms ◽  
Telomere Length ◽  
Genetic Factors ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Relative Telomere Length ◽  
Length Group ◽  
Significant Difference ◽  
Lifestyle Related Diseases

Background It has been reported that genetic factors are associated with risk factors and onset of lifestyle-related diseases, but this finding is still the subject of much debate. Objective The aim of the present study was to investigate the correlation of genetic factors, including salivary telomere length and three single nucleotide polymorphisms (SNPs) that may influence lifestyle-related diseases, with lifestyle-related diseases themselves. Methods In one year at a single facility, relative telomere length and SNPs were determined by using monochrome multiplex quantitative polymerase chain reaction and TaqMan SNP Genotyping Assays, respectively, and were compared with lifestyle-related diseases in 120 Japanese individuals near our university. Results In men and all participants, age was inversely correlated with relative telomere length with respective p values of 0.049 and 0.034. In men, the frequency of hypertension was significantly higher in the short relative telomere length group than in the long group with unadjusted p value of 0.039, and the difference in the frequency of hypertension between the two groups was of borderline statistical significance after adjustment for age (p = 0.057). Furthermore, in men and all participants, the sum of the number of affected lifestyle-related diseases, including hypertension, was significantly higher in the short relative telomere length group than in the long group, with p values of 0.004 and 0.029, respectively. For ADIPOQ rs1501299, men’s ankle brachial index was higher in the T/T genotype than in the G/G and G/T genotypes, with p values of 0.001 and 0.000, respectively. For SIRT1 rs7895833, men’s body mass index and waist circumference and all participants’ brachial-ankle pulse wave velocity were higher in the A/G genotype than in the G/G genotype, with respective p values of 0.048, 0.032 and 0.035. For FOXO3A rs2802292, women’s body temperature and all participants’ saturation of peripheral oxygen were lower in the G/T genotype than in the T/T genotype, with respective p values of 0.039 and 0.032. However, relative telomere length was not associated with physiological or anthropometric measurements except for height in men (p = 0.016). ADIPOQ rs1501299 in men, but not the other two SNPs, was significantly associated with the sum of the number of affected lifestyle-related diseases (p = 0.013), by genotype. For each SNPs, there was no significant difference in the frequency of hypertension or relative telomere length by genotype. Conclusion Relative telomere length and the three types of SNPs determined using saliva have been shown to be differentially associated with onset of and measured risk factors for lifestyle-related diseases consisting mainly of cardiovascular diseases and cancer.

scholarly journals Human papillomavirus type 16 E6 variants in cervical carcinoma: relationship to host genetic factors and clinical parameters

1999 ◽  
Vol 80 (12) ◽  
pp. 3233-3240 ◽  
Author(s):  
Claire S. Brady ◽  
Margaret F. Duggan-Keen ◽  
Judith A. Davidson ◽  
Jenny M. Varley ◽  
Peter L. Stern
Keyword(s):  
Human Papillomavirus ◽  
Clinical Outcome ◽  
Base Pair ◽  
Sequence Variation ◽  
Genetic Factors ◽  
Clinical Parameters ◽  
Hpv 16 ◽  
Human Papillomavirus Type 16 ◽  
Host Genetic ◽  
Host Genetic Factors

Infection with human papillomavirus type 16 (HPV-16) confers a high risk for the development of cervical neoplasia. Variants of this virus may interact differentially with host genetic factors, possibly altering the disease course. Thus, HPV-16 E6 variants may differ in their ability to degrade p53 whereas the polymorphic p53 alleles may provide more or less susceptible substrates for the viral oncogene product. Also, E6 variants may differ in immunogenicity by generating different peptides for presentation by polymorphic HLA molecules to specific T cells. This study examines HPV-16 E6 sequence variation in cervical carcinomas from the UK and its relationship to polymorphism of HLA and p53 and to clinical parameters. Sequence analysis of the HPV-16 E6 ORF from 77 tumour biopsies detected the viral prototype sequence in 38% of cases. The most common variation detected was a T to G transition at base pair 350, resulting in an amino acid change from a leucine to a valine. Overall, the frequencies of 350T and 350G sequences were similar (49·4% and 50·6% respectively). Other mutations of lower frequencies were detected together with and independently of 350G. HPV-16 E6 sequence variation at base pair 350 did not correlate with HLA genotype or clinical outcome. There was no difference in the distribution of p53 proline and arginine alleles between HPV-16-positive cervical carcinoma patients and local controls, and no influence on clinical outcome; however, there was a trend for an increased frequency of p53 arginine homozygotes among the 350T carcinoma patients.

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