Polymorphisms of the GCLC Gene Are Novel Genetic Markers for Susceptibility to Psoriasis Associated with Alcohol Abuse and Cigarette Smoking DOI Creative Commons
Ekaterina Efanova, Olga Bushueva,

Roman Saranyuk

et al.

Life, Journal Year: 2023, Volume and Issue: 13(6), P. 1316 - 1316

Published: June 2, 2023

The aim of this pilot study was to investigate whether single nucleotide polymorphisms (SNP) in the gene encoding catalytic subunit glutamate cysteine ligase (GCLC) are associated with risk and clinical features psoriasis. A total 944 unrelated individuals, including 474 patients a diagnosis psoriasis 470 healthy controls, were recruited for study. Six common SNPs GCLC genotyped using MassArray-4 system. Polymorphisms rs648595 (OR = 0.56, 95% CI 0.35-0.90; Pperm 0.017) rs2397147 0.54, 0.30-0.98; 0.05) susceptibility males. In male group, diplotype rs2397147-C/C × rs17883901-G/G decreased (FDR-adjusted p 0.014), whereas rs6933870-G/G 0.045) showed an association increased disease females. joint effects tobacco smoking (rs648595 rs17883901) alcohol abuse rs542914) on observed (Pperm ≤ 0.05). We also found multiple sex-independent associations between various such as earlier onset, psoriatic triad, specific localizations skin lesions. present is first show that significantly related its features.

Language: Английский

Organoid models: the future companions of personalized drug development DOI Creative Commons

Francesco Piraino,

Mariana Costa,

Marine Meyer

et al.

Biofabrication, Journal Year: 2024, Volume and Issue: 16(3), P. 032009 - 032009

Published: April 12, 2024

High failure rates of the current drug development process are driving exemplary changes toward methodologies centered on human disease

Language: Английский

Citations

3
Diagnostic staging and stratification in psychiatry and oncology: clarifying their conceptual, epistemological and ethical implications DOI
Julia Tinland, Christophe Gauld, Pierre Sujobert

et al.

Medicine Health Care and Philosophy, Journal Year: 2024, Volume and Issue: 27(3), P. 333 - 347

Published: May 17, 2024

Language: Английский

Citations

2
Human Pangenomics: Promises and Challenges of a Distributed Genomic Reference DOI Creative Commons
Paolo Abondio, Elisabetta Cilli, Donata Luiselli

et al.

Life, Journal Year: 2023, Volume and Issue: 13(6), P. 1360 - 1360

Published: June 9, 2023

A pangenome is a collection of the common and unique genomes that are present in given species. It combines genetic information all sampled, resulting large diverse range material. Pangenomic analysis offers several advantages compared to traditional genomic research. For example, not bound by physical constraints single genome, so it can capture more variability. Thanks introduction concept pangenome, possible use exceedingly detailed sequence data study evolutionary history two different species, or how populations within species differ genetically. In wake Human Pangenome Project, this review aims at discussing around human variation, which then framed pangenomic inform population genetics, phylogenetics, public health policy providing insights into basis diseases determining personalized treatments, targeting specific profile an individual. Moreover, technical limitations, ethical concerns, legal considerations discussed.

Language: Английский

Citations

6
Polymorphisms of the GCLC Gene Are Novel Genetic Markers For Susceptibility To Psoriasis Associated With Alcohol Abuse And Cigarette Smoking DOI Open Access
Ekaterina Efanova, Olga Bushueva,

Roman Saranyuk

et al.

Published: May 8, 2023

The aim of this pilot study was to investigate whether single nucleotide polymorphisms (SNP) in the gene encoding catalytic subunit glutamate cysteine ligase (GCLC) are associated with risk and clinical features psoriasis. A total 944 unrelated individuals, including 474 patients a diagnosis psoriasis 470 healthy controls, were recruited for study. Six common SNPs GCLC genotyped using MassArray-4 system. Polymorphisms rs648595 (OR=0.56 95%CI 0.35-0.90, Pperm=0.017) rs2397147 (OR=0.54 0.30-0.98, Pperm=0.05) susceptibility males. In male group, diplotype rs2397147-C/C×rs17883901-G/G decreased (FDR-adjusted P=0.014), whereas rs6933870-G/G×rs17883901-G/G P=0.045) showed association increased disease females. Joint effects tobacco smoking (rs648595 rs17883901) alcohol abuse rs542914) on observed (Pperm≤0.05). Furthermore, we found multiple sex-independent associations between various such as earlier onset, psoriatic triad, specific localizations skin lesions. present is first show that significantly related its features.

Language: Английский

Citations

5
Polymorphisms of the GCLC Gene Are Novel Genetic Markers for Susceptibility to Psoriasis Associated with Alcohol Abuse and Cigarette Smoking DOI Creative Commons
Ekaterina Efanova, Olga Bushueva,

Roman Saranyuk

et al.

Life, Journal Year: 2023, Volume and Issue: 13(6), P. 1316 - 1316

Published: June 2, 2023

The aim of this pilot study was to investigate whether single nucleotide polymorphisms (SNP) in the gene encoding catalytic subunit glutamate cysteine ligase (GCLC) are associated with risk and clinical features psoriasis. A total 944 unrelated individuals, including 474 patients a diagnosis psoriasis 470 healthy controls, were recruited for study. Six common SNPs GCLC genotyped using MassArray-4 system. Polymorphisms rs648595 (OR = 0.56, 95% CI 0.35-0.90; Pperm 0.017) rs2397147 0.54, 0.30-0.98; 0.05) susceptibility males. In male group, diplotype rs2397147-C/C × rs17883901-G/G decreased (FDR-adjusted p 0.014), whereas rs6933870-G/G 0.045) showed an association increased disease females. joint effects tobacco smoking (rs648595 rs17883901) alcohol abuse rs542914) on observed (Pperm ≤ 0.05). We also found multiple sex-independent associations between various such as earlier onset, psoriatic triad, specific localizations skin lesions. present is first show that significantly related its features.

Language: Английский

Citations

4