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#39364016   2024/09/19 To Up

GWAS and polygenic risk score of severe COVID-19 in Eastern Europe.

COVID-19 disease has infected more than 772 million people, leading to 7 million deaths. Although the severe course of COVID-19 can be prevented using appropriate treatments, effective interventions require a thorough research of the genetic factors involved in its pathogenesis.
Elena Kovalenko, Layal Shaheen, Ekaterina Vergasova, Alexey Kamelin, Valerya Rubinova, Dmitry Kharitonov, Anna Kim, Nikolay Plotnikov, Artem Elmuratov, Natalia Borovkova, Maya Storozheva, Sergey Solonin, Irina Gilyazova, Petr Mironov, Elza Khusnutdinova, Sergey Petrikov, Anna Ilinskaya, Valery Ilinsky, Alexander Rakitko

1577 related Products with: GWAS and polygenic risk score of severe COVID-19 in Eastern Europe.

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#39344392   // To Up

GWAS-Identified Loci are Associated with Obesity and Type 2 Diabetes Mellitus in Patients with Severe COVID-19.

Comorbidities such as obesity and type 2 diabetes mellitus (T2DM) have emerged as critical risk factors exacerbating the severity and mortality of COVID-19. Meanwhile, numerous genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) associated with increased susceptibility to severe COVID-19.
Alexey Loktionov, Ksenia Kobzeva, Anna Dorofeeva, Vera Sergeeva, Olga Bushueva

1682 related Products with: GWAS-Identified Loci are Associated with Obesity and Type 2 Diabetes Mellitus in Patients with Severe COVID-19.

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#39175753   2024/08/08 To Up

GWAS-significant loci and severe COVID-19: analysis of associations, link with thromboinflammation syndrome, gene-gene, and gene-environmental interactions.

The aim of this study was to replicate associations of GWAS-significant loci with severe COVID-19 in the population of Central Russia, to investigate associations of the SNPs with thromboinflammation parameters, to analyze gene-gene and gene-environmental interactions.
Alexey Valerevich Loktionov, Ksenia Andreevna Kobzeva, Andrey Romanovich Karpenko, Vera Alexeevna Sergeeva, Yuriy Lvovich Orlov, Olga Yurievna Bushueva

2053 related Products with: GWAS-significant loci and severe COVID-19: analysis of associations, link with thromboinflammation syndrome, gene-gene, and gene-environmental interactions.

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#39040446   2024/07/08 To Up

Genetic predisposition to milder forms of COVID-19 may provide some resilience to head and neck cancers.

The impact of the COVID-19 pandemic on head and neck cancer (HNC) has been suggested, but the causal relationship remains unclear.
Boxuan Han, Minghong Sun, Yanming Zhao, Ancha Baranova, Hongbao Cao, Shaokun Liu, Xixi Shen, Lizhen Hou, Jugao Fang, Meng Lian

2912 related Products with: Genetic predisposition to milder forms of COVID-19 may provide some resilience to head and neck cancers.

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#38804045   // To Up

Highly sensitive detection of a long-COVID-related SNP in LZTFL1 allele with Argonaute in point-of-care settings.


Yixin Tang, Miao Xu, Bo Luo, Yue Wang, Yukang Chen, Guangxi Yu, Guang Yang, Song Gao, Pei Wang

1747 related Products with: Highly sensitive detection of a long-COVID-related SNP in LZTFL1 allele with Argonaute in point-of-care settings.

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#38801250   2024/05/27 To Up

LZTFL1, a rare cause of Bardet-Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?

Bardet-Biedl syndrome (BBS) is an inherited ciliopathy affecting multiple organs and systems with wide clinical and genetic heterogeneity. To date, biallelic variants of the LZTFL1 gene have been reported only in six patients with BBS. We identified a homozygous LZTFL1 nonsense variant in a boy presenting with classical BBS features. In addition, he showed a more pronounced cognitive impairment than previously reported subjects and severe short stature, matching the phenotype displayed by some other patients with LZTFL1 variants and lztfl1 knock-out mice. This case report contributes to a better understanding of the clinical spectrum associated with LZTFL1 pathogenic variants, and highlights possible genotype-phenotype correlations.
Simone Gana, Marta Di Biagio, Laura Carraro, Gloria Rossetto, Laura Scarpelli, Ilaria Scognamillo, Enza Maria Valente, Sabrina Signorini

1392 related Products with: LZTFL1, a rare cause of Bardet-Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?

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#38771659   2024/05/21 To Up

Increased prevalence of the COVID-19 associated Neanderthal mutations in the Central European Roma population.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and subsequent COVID-19 has spread world-wide and become pandemic with about 7 million deaths reported so far. Interethnic variability of the disease has been described, but a significant part of the differences remain unexplained and may be attributable to genetic factors.
Jaroslav A Hubáček, Lenka Šedová, Věra Hellerová, Věra Adámková, Valérie Tóthová

2488 related Products with: Increased prevalence of the COVID-19 associated Neanderthal mutations in the Central European Roma population.

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#38605121   2024/04/11 To Up

Next-generation sequencing of host genetics risk factors associated with COVID-19 severity and long-COVID in Colombian population.

Coronavirus disease 2019 (COVID-19) was considered a major public health burden worldwide. Multiple studies have shown that susceptibility to severe infections and the development of long-term symptoms is significantly influenced by viral and host factors. These findings have highlighted the potential of host genetic markers to identify high-risk individuals and develop target interventions to reduce morbimortality. Despite its importance, genetic host factors remain largely understudied in Latin-American populations. Using a case-control design and a custom next-generation sequencing (NGS) panel encompassing 81 genetic variants and 74 genes previously associated with COVID-19 severity and long-COVID, we analyzed 56 individuals with asymptomatic or mild COVID-19 and 56 severe and critical cases. In agreement with previous studies, our results support the association between several clinical variables, including male sex, obesity and common symptoms like cough and dyspnea, and severe COVID-19. Remarkably, thirteen genetic variants showed an association with COVID-19 severity. Among these variants, rs11385942 (p < 0.01; OR = 10.88; 95% CI = 1.36-86.51) located in the LZTFL1 gene, and rs35775079 (p = 0.02; OR = 8.53; 95% CI = 1.05-69.45) located in CCR3 showed the strongest associations. Various respiratory and systemic symptoms, along with the rs8178521 variant (p < 0.01; OR = 2.51; 95% CI = 1.27-4.94) in the IL10RB gene, were significantly associated with the presence of long-COVID. The results of the predictive model comparison showed that the mixed model, which incorporates genetic and non-genetic variables, outperforms clinical and genetic models. To our knowledge, this is the first study in Colombia and Latin-America proposing a predictive model for COVID-19 severity and long-COVID based on genomic analysis. Our study highlights the usefulness of genomic approaches to studying host genetic risk factors in specific populations. The methodology used allowed us to validate several genetic variants previously associated with COVID-19 severity and long-COVID. Finally, the integrated model illustrates the importance of considering genetic factors in precision medicine of infectious diseases.
Mariana Angulo-Aguado, Juan Camilo Carrillo-Martinez, Nora Constanza Contreras-Bravo, Adrien Morel, Katherine Parra-Abaunza, William Usaquén, Dora Janeth Fonseca-Mendoza, Oscar Ortega-Recalde

2453 related Products with: Next-generation sequencing of host genetics risk factors associated with COVID-19 severity and long-COVID in Colombian population.

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#38555007   2024/03/28 To Up

Host genetic variants associated with COVID-19 reconsidered in a Slovak cohort.

We present the results of an association study involving hospitalized coronavirus disease 2019 (COVID-19) patients with a clinical background during the 3rd pandemic wave of COVID-19 in Slovakia. Seventeen single nucleotide variants (SNVs) in the eleven most relevant genes, according to the COVID-19 Host Genetics Initiative, were investigated. Our study confirms the validity of the influence of LZTFL1 and 2'-5'-oligoadenylate synthetase (OAS)1/OAS3 genetic variants on the severity of COVID-19. For two LZTFL1 SNVs in complete linkage disequilibrium, rs17713054 and rs73064425, the odds ratios of baseline allelic associations and logistic regressions (LR) adjusted for age and sex ranged in the four tested designs from 2.04 to 2.41 and from 2.05 to 3.98, respectively. The OAS1/OAS3 haplotype 'gttg' carrying a functional allele G of splice-acceptor variant rs10774671 manifested its protective function in the Delta pandemic wave. Significant baseline allelic associations of two DPP9 variants in all tested designs and two IFNAR2 variants in the Omicron pandemic wave were not confirmed by adjusted LR. Nevertheless, adjusted LR showed significant associations of NOTCH4 rs3131294 and TYK2 rs2304256 variants with severity of COVID-19. Hospitalized patients' reported comorbidities were not correlated with genetic variants, except for obesity, smoking (IFNAR2), and hypertension (NOTCH4). The results of our study suggest that host genetic variations have an impact on the severity and duration of acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Considering the differences in allelic associations between pandemic waves, they support the hypothesis that every new SARS-CoV-2 variant may modify the host immune response by reconfiguring involved pathways.
Maria Skerenova, Michal Cibulka, Zuzana Dankova, Veronika Holubekova, Zuzana Kolkova, Vincent Lucansky, Dana Dvorska, Andrea Kapinova, Michaela Krivosova, Martin Petras, Eva Baranovicova, Ivana Baranova, Elena Novakova, Peter Liptak, Peter Banovcin, Anna Bobcakova, Robert Rosolanka, Maria Janickova, Andrea Stanclova, Ludovit Gaspar, Martin Caprnda, Robert Prosecky, Monika Labudova, Zufar Gabbasov, Luis Rodrigo, Peter Kruzliak, Zora Lasabova, Tatiana Matakova, Erika Halasova

1213 related Products with: Host genetic variants associated with COVID-19 reconsidered in a Slovak cohort.

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#38517939   2024/03/22 To Up

Canadian COVID-19 host genetics cohort replicates known severity associations.

The HostSeq initiative recruited 10,059 Canadians infected with SARS-CoV-2 between March 2020 and March 2023, obtained clinical information on their disease experience and whole genome sequenced (WGS) their DNA. We analyzed the WGS data for genetic contributors to severe COVID-19 (considering 3,499 hospitalized cases and 4,975 non-hospitalized after quality control). We investigated the evidence for replication of loci reported by the International Host Genetics Initiative (HGI); analyzed the X chromosome; conducted rare variant gene-based analysis and polygenic risk score testing. Population stratification was adjusted for using meta-analysis across ancestry groups. We replicated two loci identified by the HGI for COVID-19 severity: the LZTFL1/SLC6A20 locus on chromosome 3 and the FOXP4 locus on chromosome 6 (the latter with a variant significant at P < 5E-8). We found novel significant associations with MRAS and WDR89 in gene-based analyses, and constructed a polygenic risk score that explained 1.01% of the variance in severe COVID-19. This study provides independent evidence confirming the robustness of previously identified COVID-19 severity loci by the HGI and identifies novel genes for further investigation.
Elika Garg, Paola Arguello-Pascualli, Olga Vishnyakova, Anat R Halevy, Samantha Yoo, Jennifer D Brooks, Shelley B Bull, France Gagnon, Celia M T Greenwood, Rayjean J Hung, Jerald F Lawless, Jordan Lerner-Ellis, Jessica K Dennis, Rohan J S Abraham, Jean-Michel Garant, Bhooma Thiruvahindrapuram, Steven J M Jones, , Lisa J Strug, Andrew D Paterson, Lei Sun, Lloyd T Elliott

2050 related Products with: Canadian COVID-19 host genetics cohort replicates known severity associations.

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