Association of genetic variations in ACE2, TIRAP and factor X with outcomes in COVID-19

Background Coronavirus disease 2019 (COVID-19), caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), can manifest with varying disease severity and mortality. Genetic predisposition influences the clinical course of infectious diseases. We investigated whether genetic polymorphisms in candidate genes ACE2, TIRAP, and factor X are associated with clinical outcomes in COVID-19. Methods We conducted a single-centre retrospective cohort study. All patients who visited the emergency department with SARS-CoV-2 infection proven by polymerase chain reaction were included. Single nucleotide polymorphisms in ACE2 (rs2285666), TIRAP (rs8177374) and factor X (rs3211783) were assessed. The outcomes were mortality, respiratory failure and venous thromboembolism. Respiratory failure was defined as the necessity of >5 litres/minute oxygen, high flow nasal oxygen suppletion or mechanical ventilation. Results Between March and April 2020, 116 patients (35% female, median age 65 [inter quartile range 55–75] years) were included and treated according to the then applicable guidelines. Sixteen patients (14%) died, 44 patients (38%) had respiratory failure of whom 23 required endotracheal intubation for mechanical ventilation, and 20 patients (17%) developed venous thromboembolism. The percentage of TIRAP polymorphism carriers in the survivor group was 28% as compared to 0% in the non-survivor group (p = 0.01, Bonferroni corrected p = 0.02). Genotype distribution of ACE2 and factor X did not differ between survivors and non-survivors. Conclusion This study shows that carriage of TIRAP polymorphism rs8177374 could be associated with a significantly lower mortality in COVID-19. This TIRAP polymorphism may be an important predictor in the outcome of COVID-19.

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

ISRN Dentistry ◽

10.5402/2012/751920 ◽

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.

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miR-372 (rs12983273) and LncRNA HULC (rs7763881) Genetic Polymorphisms and Susceptibility to Hepatitis B Virus (HBV) Infection

10.21203/rs.3.rs-656527/v1 ◽

2021 ◽

Author(s):

roba talaat ◽

Samar M. Shahen ◽

Soha Z. Elshenawy ◽

Salwa E. Mohamed

Keyword(s):

Hbv Infection ◽

Genotype Distribution ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Increased Risk ◽

Significant Difference ◽

B Virus ◽

Risk Snps ◽

Non Coding Rnas ◽

Polymerase Chain

Abstract MicroRNAs (miRNAs) and Long non-coding RNAs (lncRNAs) are two major types of non-coding RNAs (ncRNAs) with regulatory roles. Genetic variation in the miRNAs and lncRNAs has been involved in the initiation and progression of many diseases. miRNA-LncRNA interactions are implicated in the regulation of many diseases, such as hepatitis infection. In this study, we assumed that single nucleotide polymorphisms (SNPs) in miR-372 (rs28461391 C/T) and HULC (rs7763881 A/C) might participate in HBV infection risk. SNPs rs28461391 in miR-372 and rs7763881 in HULC were genotyped in 100 HBV patients and 100 healthy controls using the Polymerase chain reaction sequence-specific primer technique (PCR-SSP). Our results showed no significant difference in miR-372 rs12983273 genotype distribution between both controls and HBV patients. On the other hand, there was a significant increase in HULC rs7763881 CC genotype (P<0.05) coincides with a significant decrease in AC genotype distribution (P<0.05) in HBV patients as compared to controls. Our results showed that the CC genotype is associated with an increased risk of HBV infection (OR= 3.43; CI: 1.3-9.07) while AA genotype is a protective one (OR= 0.3; CI: 0.13-9.07). Our results suggest that HULC rs7763881 A/C might be a biomarker for HBV susceptibility. However, larger sample studies are recommended to verify our preliminary data. To the best of our knowledge, the present study was the first to investigate the relevance of miR-372 (rs28461391 C/T) and HULC (rs7763881 A/C) gene polymorphisms to the risk of HBV infection in the Egyptian population.

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173 The role of an intronic single nucleotide polymorphism within the dopamine receptor type-2 gene on pituitary prolactin protein expression in bulls

Journal of Animal Science ◽

10.1093/jas/skz397.085 ◽

2020 ◽

Vol 98 (Supplement_2) ◽

pp. 37-37

Author(s):

Andrea N DeCarlo ◽

Keelee J McCarty ◽

Sarah K Richey ◽

Nathan Long ◽

Scott Pratt

Keyword(s):

Protein Expression ◽

Genotype Distribution ◽

Nucleotide Polymorphisms ◽

Genotypic Effect ◽

Single Nucleotide ◽

Detection Range ◽

Cull Cows ◽

Densitometry Analysis ◽

Pcr Products

Abstract Detrimental effects to male reproductive physiology have been observed due to changes in prolactin (PRL) serum concentration. Regulation of PRL by dopamine binding to the dopamine type-2 receptor (DRD2) is well defined and associations between male physiology and single nucleotide polymorphisms (SNPs) within the DRD2 gene have been observed. The objective of the study was to evaluate association of a DRD2 SNP to PRL protein expression in bulls. Testis and epididymis were collected from bulls grazing a forage containing or lacking a dopamine agonist at the end of a 126 d study (n = 14). Bovine pituitaries (n = 587) were collected randomly over 3 mo from a local abattoir which processes cull cows and bulls. Sex of pituitaries was verified (n = 259 males) by duplex PCR for amplification of SRY and b-actin followed by Southern blotting of PCR products for selection of male. Prolactin protein expression was assessed in testis, epididymis, and pituitary by western blotting. Expression of PRL protein was below detection range in reproductive tissues but was present in pituitary, therefore experiments continued in pituitary. Restriction fragment length polymorphism genotyping was performed on pituitaries by amplification of the DRD2 SNP region followed by digestion with a Tfil enzyme. Digested of products produced 3,2, or 1 band (AG, AA, GG, respectively). A subset of male pituitaries was blotted by slot blot manifold and PRL protein expression assessed by immunodetection and densitometry analysis normalized to GAPDH expression. Pituitary genotype distribution was 17.4% AA (n = 16), 63% AG (n = 58), and 19.6% GG (n = 18). Prolactin protein expression in the pituitary was similar across genotype (P = 0.23). These findings indicate that the DRD2 SNP has no genotypic effect on PRL protein expression in bovine pituitary.

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Association Between Apical Periodontitis and TNF-α -308 G>A Gene Polymorphism: A Systematic Review and Meta-Analysis

Brazilian Dental Journal ◽

10.1590/0103-6440201701491 ◽

2017 ◽

Vol 28 (5) ◽

pp. 535-542 ◽

Cited By ~ 4

Author(s):

Alessandro Guimarães Salles ◽

Lívia Azeredo Alves Antunes ◽

Patrícia Arriaga Carvalho ◽

Erika Calvano Küchler ◽

Leonardo Santos Antunes

Keyword(s):

Systematic Review ◽

Meta Analysis ◽

Apical Periodontitis ◽

Permanent Teeth ◽

Genotype Distribution ◽

Nucleotide Polymorphisms ◽

Eligibility Criteria ◽

Single Nucleotide ◽

Mesh Terms ◽

Tnf Α

Abstract Currently, investigations have focused on the identification of Single Nucleotide Polymorphisms (SNP) involved in host response and its ability to generate an immunity deficiency. The aim of this study was to perform a systematic review (SR) and meta-analysis to evaluate the association between TNF-α -308 G>A polymorphism and apical periodontitis (AP) phenotypes. A broad search for studies was conducted. The following databases were used: PubMed, Scopus, Web of Science, and VHL (Medline, SciELO, Ibecs, and Lilacs). The MeSH terms “Periapical Periodontitis,” “Periapical Abscess,” “Polymorphism, Genetic,” and “Polymorphism, Single Nucleotide” were used. MeSH synonyms, related terms, and free terms were included. Clinical investigations of individuals with different AP phenotypes in permanent teeth were selected. After application of the eligibility criteria, selected studies were qualified by assessing their methodological quality. A fixed effect model was used for the meta-analysis. The initial search identified 71 references. After excluding duplicate abstracts, 33 were selected. From these, two were eligible for quality assessment and were classified as being of moderate evidence. The included studies did not demonstrate association between AP and TNF-α -308 G>A SNP. However, the meta-analysis demonstrated an association between the genotype distribution and AP phenotype (OR= 0.49; confidence interval= 0.25, 0.96; p=0.04). The role of TNF-α -308 G>A SNP in AP phenotypes is debatable. Further studies are needed to confirm and understand the underlying mechanisms of the identified association.

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Avaliação das Variantes Genéticas dos Genes AMELX e ENAM na Cárie Dentária em Adolescentes

Ensaios e Ciência C Biológicas Agrárias e da Saúde ◽

10.17921/1415-6938.2020v24n5-esp.p650-654 ◽

2021 ◽

Vol 24 (5-esp.) ◽

pp. 650-654

Author(s):

Gabriela Paschoalini Romagni ◽

Paula Marino Costa ◽

Sandra Mara Maciel ◽

Maria Paula Jacobucci ◽

Regina Célia Poli-Frederico

Keyword(s):

Genetic Component ◽

World Health ◽

Caries Experience ◽

Nucleotide Polymorphisms ◽

Chi Square ◽

Single Nucleotide ◽

Significance Level ◽

Exact Test ◽

Polymerase Chain ◽

Health Organization

A doença cárie é considerada, atualmente, como biofilme sacarose dependente, entretanto, estudos recentes apontam que fatores genéticos também podem influenciar seu desenvolvimento. Variantes nos gene amelogenina (AMELX) e enamelina (ENAM), responsáveis pela formação do esmalte, têm sido propostas como potencialmente envolvidos na doença. O objetivo deste estudo foi avaliar se a ocorrência de cárie dentária em adolescentes está relacionado às variantes nos genes AMELX e ENAM. Para a avaliação da prevalência de cárie foi utilizado o índice de dentes cariados, perdidos e obturados (CPO-D), segundo critérios da Organização Mundial de Saúde. As amostras de DNA foram extraídas das células da mucosa oral. Para a análise dos polimorfismos de nucleotídeo único (SNPs) dos genes AMELX (rs17878486) e ENAM (rs7671281) foi utilizada a técnica de amplificação de fragmentos de DNA pela reação em cadeia da polimerase foi realizada (PCR) em tempo real pelo sistema TaqMan (Applied Biosystems, Foster City, EUA). Para a análise estatística, foi utilizado o teste exato de Fisher e qui-quadrado com nível de significância de 5%. Apenas os fatores socioeconômicos influenciaram a experiência de cárie. Concluiu-se que o componente genético, na população deste estudo, não influenciou o desenvolvimento da cárie. Palavras-chave: Polimorfismo genético. Adolescentes. Esmalte. Abstract Caries disease is currently considered a sucrose-dependent biofilm, however recent studies indicate that a genetic component can also influence its development. Variants in the amelogenin (AMELX) and enamelin (ENAM) genes, responsible for the enamel formation, have been proposed as potentially involved in the disease. The purpose of this study was to evaluate whether the occurrence of dental caries in adolescents is related to variants in the AMELX and ENAM genes. To assess the caries prevalence, the index of decayed, missing and filled teeth (DMFT) were used, according to World Health Organization criteria. DNA samples were extracted from oral mucosa cells. For the analysis of single nucleotide polymorphisms (SNPs) of the AMELX (rs17878486) and ENAM (rs7671281) genes, the amplifying DNA fragments technique by the polymerase chain reaction was performed (PCR) in real time by the TaqMan system (Applied Biosystems, Foster City, USA). For the statistical analysis, Fisher's exact test and chi-square were used with a 5% significance level. Only socioeconomic factors influenced the caries experience. It was concluded that the genetic component in the population of this study, did not influence the development of caries. Keywords: Genetic polymorphism. Adolescents. Enamel.

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Association of non-synonymous SNPs of <i>OPN</i> gene with litter size traits in pigs

Archives Animal Breeding ◽

10.5194/aab-58-317-2015 ◽

2015 ◽

Vol 58 (2) ◽

pp. 317-323 ◽

Cited By ~ 3

Author(s):

T. Kumchoo ◽

S. Mekchay

Keyword(s):

Litter Size ◽

Reproductive Traits ◽

Snp Markers ◽

Strong Linkage Disequilibrium ◽

Nucleotide Polymorphisms ◽

Large White ◽

Single Nucleotide ◽

Pcr Rflp ◽

Polymerase Chain ◽

Acid Exchange

Abstract. Osteopontin (OPN) gene is a secreted phosphoprotein which appears to play a key function in the conceptus implantation, placentation and maintenance of pregnancy in pigs. The objectives of this study were to verify the non-synonymous single nucleotide polymorphisms (SNPs) and their association with litter size traits in commercial Thai Large White pigs. A total of 320 Thai Large White sows were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Three SNPs at c.425G> A, c.573T> C and c.881C> T revealed amino acid exchange rates of p.110Ala> Thr, p.159Val> Ala and p.262Pro> Ser, respectively, and were then segregated. These three SNPs were significantly associated with total number born (TNB) and number born alive (NBA) traits. No polymorphisms of the two SNP markers (c.278A> G and c.452T> G) were observed in this study. Moreover, the SNPs at c.425G> A and c.573T> C were found to be in strong linkage disequilibrium. The association of OPN with litter size emphasizes the importance of porcine OPN as a candidate gene for reproductive traits in pig breeding.

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Lack of association between delayed tooth emergence and single nucleotide polymorphisms in estrogen receptors

Brazilian Dental Journal ◽

10.1590/0103-6440202104103 ◽

2021 ◽

Vol 32 (6) ◽

pp. 107-114

Author(s):

Isabela Ribeiro Madalena ◽

Caio Luiz Bitencourt Reis ◽

Daniela Silva Barroso de Oliveira ◽

Giovana Daniela Pecharki ◽

Paula Cristina Trevilatto ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Oral Cavity ◽

Estrogen Receptors ◽

Permanent Tooth ◽

Genotype Distribution ◽

Nucleotide Polymorphisms ◽

Age And Gender ◽

Single Nucleotide ◽

And Gender ◽

Tooth Emergence

Abstract The purpose of the study was to investigate the association between single nucleotide polymorphisms (SNPs) in genes encoding estrogen receptors (ESR1 and ESR2, respectively) and delayed tooth emergence (DTE). This cross-sectional study was composed of biological unrelated children of both sexes, age ranging from 11 to 13 years old. DTE was defined when the successor primary tooth was still present in the oral cavity after its exfoliation time or the absence of the permanent tooth emergence into the oral cavity. Children were diagnosed with DTE when they had at least one delayed permanent tooth, according to age of exfoliation of each tooth proposed by The American Dental Association. Genomic DNA from saliva was used to evaluate the SNPs in ESR1 (rs9340799 and rs2234693) and ESR2 (rs1256049 and rs4986938) using Real-Time PCR. Chi-square or Fisher exact tests and Logistic Regression adjusted by age and gender were performed. SNP-SNP interaction was accessed by multifactor dimensionality reduction (MDR) analysis also adjusted by gender and age. The established alpha of this study was 5%. Among 537 included children, 296 (55%) were in the “DTE” group and the 241 (45%) were in the “Control” group. Age and gender were not statistically different among the groups (p>0.05). Genotype distribution of the SNPs rs9340799, rs2234693, rs1256049 and rs4986938 were not associated with DTE (p> 0.05). The models elected by MDR were not statistically significant either. Conclusions: The studied SNPs in ESR1 and ESR2 were not associated with permanent DTE.

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Presence of CAT genetic markers as an indicator of accelerated rate of liver fibrosis progression in patients with chronic hepatitis

Experimental and Clinical Gastroenterology ◽

10.31146/1682-8658-ecg-189-5-39-43 ◽

2021 ◽

Vol 1 (5) ◽

pp. 39-43

Author(s):

I. A. Bulatova ◽

T. P. Shevlyukova ◽

A. P. Shchekotova ◽

A. V. Krivtsov

Keyword(s):

Chronic Hepatitis ◽

Liver Fibrosis ◽

Genetic Markers ◽

Rapid Progression ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Risk Alleles ◽

Slow Progression ◽

Polymerase Chain ◽

Number Of Individuals

Goal. To evaluate the genetic profi le of patients with chronic hepatitis C (CHC) by the CAT gene polymorphism in the region-262G/A (rs1001179), GPX4 in the region-718C/T (rs713041), IL28B in the region C/T (rs12979860) and VEGFA in the region- 634G/C (rs2010963) to analyze the association of the rate of progression of liver fi brosis with polymorphic genetic markers.Materials and methods. We examined 36 patients with CHC with a rapidly progressive rate of fi brosis (up to 10 years) and 56 patients with a slowly progressive course of the disease (more than 10 years). The study of single- nucleotide polymorphisms of genes was carried out by the method of polymerase chain reaction.Results. In the group with rapid progression of liver fi brosis, individuals with multiple risk alleles for the studied polymorphisms were more common, which confi rms the association of the risk of liver fi brosis progression with the genetic markers CAT in the region-262G/A (rs1001179) and GPX4 in the region-718C/T (rs713041) with their combined carrier. Among patients with rapid progression of fi brosis, a greater number of individuals had simultaneously 4–6 risk alleles in 27.5%, while patients with slow progression of the process only in 11% of cases.Conclusion. This set of genetic markers can be used as genetic testing of patients with liver fibrosis to determine the prognosis of the disease.

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Nucleotide variation in the ovine KRT31 promoter region and its association with variation in wool traits in Merino-cross lambs

The Journal of Agricultural Science ◽

10.1017/s0021859619000406 ◽

2019 ◽

Vol 157 (2) ◽

pp. 182-188

Author(s):

W. Chai ◽

H. Zhou ◽

H. Gong ◽

J. Wang ◽

Y. Luo ◽

...

Keyword(s):

Promoter Region ◽

Wool Fibre ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Banding Patterns ◽

Keratin Gene ◽

Single Stranded Conformational Polymorphism ◽

Exon 1 ◽

Polymerase Chain ◽

Fleece Weight

AbstractKeratins are the main structural proteins of wool fibres, and it is thought that variation in the keratins may affect wool fibre characteristics. Polymerase chain reaction-single stranded conformational polymorphism (PCR-SSCP) analyses were used to investigate four regions of the ovine keratin gene KRT31 including a portion of the promoter, the exon 1, exon 3 and exon 7 regions. Initially, in a screening panel of 300 New Zealand Romney, Merino and White Dorper sheep obtained from 26 farms, three, two, two and two PCR-SSCP banding patterns were observed for these four regions, respectively. The promoter region, the exon 1 and exon 3 regions contained two single nucleotide polymorphisms (SNPs) and the exon 7 region contained one SNP. The effect of the variation found in the promoter region on wool traits was subsequently investigated in 485 Southdown × Merino-cross lambs from seven sire-lines. The three variants identified in the original 300 sheep (named A, B and C) were observed with frequencies of 56, 29 and 15%, respectively. The presence of A and B had no significant effect on wool traits, but the presence of C was found to be associated with an increase in greasy fleece weight (GFW), clean fleece weight (CFW) and mean staple length (MSL). There was an effect of genotype on CFW and MSL, with BC sheep producing wool of higher CFW and MSL than AA, AB, AC and BB sheep. These results suggest that ovine KRT31 might be a useful candidate gene for improving wool traits.

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