Combined effect of ADH1B rs1229984, rs2066702 and ADH1C rs1693482/ rs698 alleles on alcoholism and chronic liver diseases

The aim of this study was to analyze the combined effect of the most frequent alcohol dehydrogenase polymorphisms (Arg48His and Arg370Cys in ADH1B, Arg272Gln and Ile350Val in ADH1C) on the alcohol use habits, alcohol dependence and chronic liver diseases in Hungary

Identification of Biomarkers for the Prevention of Chronic Disease

One of the goals of personalised medicine (PM) is to use the ever-growing understanding of biology to provide a higher level of precision in disease prevention and patient care. PM strategies include the use of decision-making processes based on biomarker-driven approaches. Genes, gene expression products (i.e. transcripts and proteins) and metabolites are the main biomarker families. Given this molecular diversity of biomarkers, the increase in high-throughput omics technologies offers an amazing opportunity to capture the whole picture of biological systems in a hypothesis-free and unbiased model. This chapter examines as the high-throughput era in omics is progressing and as genomics and other omics will be effective in disentangling the aetiology and progression of the diseases

Multiple common variants for celiac disease influencing immnune gene expression

We performed a second-generation genome-wide association study of 4,533 individuals with celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs with P(GWAS) < 10(-4) and 18 SNPs from 14 known loci in a further 4,918 cases and 5,684 controls. Variants from 13 new regions reached genome-wide significance (P(combined) < 5 x 10(-8)); most contain genes with immune functions (BACH2, CCR4, CD80, CIITA-SOCS1-CLEC16A, ICOSLG and ZMIZ1), with ETS1, RUNX3, THEMIS and TNFRSF14 having key roles in thymic T-cell selection. There was evidence to suggest associations for a further 13 regions. In an expression quantitative trait meta-analysis of 1,469 whole blood samples, 20 of 38 (52.6%) tested loci had celiac risk variants correlated (P < 0.0028, FDR 5%) with cis gene expression

Multiple common variants for celiac disease influencing immune gene expression

We performed a second-generation genome-wide association study of 4,533 individuals with celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs with P(GWAS) < 10(-4) and 18 SNPs from 14 known loci in a further 4,918 cases and 5,684 controls. Variants from 13 new regions reached genome-wide significance (P(combined) < 5 x 10(-8)); most contain genes with immune functions (BACH2, CCR4, CD80, CIITA-SOCS1-CLEC16A, ICOSLG and ZMIZ1), with ETS1, RUNX3, THEMIS and TNFRSF14 having key roles in thymic T-cell selection. There was evidence to suggest associations for a further 13 regions. In an expression quantitative trait meta-analysis of 1,469 whole blood samples, 20 of 38 (52.6%) tested loci had celiac risk variants correlated (P < 0.0028, FDR 5%) with cis gene expression