MIRKO TRECCANI^*, ELENA LOCATELLI, CRISTINA PATUZZO, GIOVANNI MALERBA^*

BIOCELL, Vol.47, No.6, pp. 1225-1241, 2023, DOI:10.32604/biocell.2023.027884 - 19 May 2023

Abstract The advent of genomic big data and the statistical need for reaching significant results have led genome-wide association studies to be ravenous of a huge number of genetic markers scattered along the whole genome. Since its very beginning, the so-called genotype imputation served this purpose; this statistical and inferential procedure based on a known reference panel opened the theoretical possibility to extend association analyses to a greater number of polymorphic sites which have not been previously assayed by the used technology. In this review, we present a broad overview of the genotype imputation process, showing More >

Arsene Mekinian¹, Ryad Tamouza², Stephan Pavy³, Nicolas Gestermann¹, Marc Ittah¹, Xavier Mariette^1,3, Corinne Miceli-Richard^1,3

European Cytokine Network, Vol.22, No.2, pp. 88-102, 2011, DOI:10.1684/ecn.2011.0285

Abstract The functional consequences of TNF-α promoter SNPs are still controversial and, to date, the functional consequences of TNF-α haplotype combinations in healthy subjects have not been assessed. In order to assess functional consequences of each TNF-α polymorphism and of their haplotype combination, TNF-α expression and secretion by LPS-stimulated monocytes from 50 healthy subjects were assessed. Monocytes were isolated and cultured for four hours, after 100 ng/mL LPS stimulation. mRNA expression was quantified using the real-time polymerase chain reaction, and TNF-α levels were measured by enzyme-linked immunosorbent assay. Each subject was genotyped for TNF-α -857 C/T,… More >

Mouna Stayoussef¹, Jihen Benmansour¹, Fayza A. Al-Jenaidi^2,3, Mansoor H. Rajab², Hichem B. Said⁴, Mohamed Ourtani⁵, Chiheb B. Rayana¹, Touhami Mahjoub¹, Wassim Y. Almawi³

European Cytokine Network, Vol.21, No.4, pp. 285-291, 2010, DOI:10.1684/ecn.2010.0215

Abstract Aim. We investigated the association of tumor necrosis factor (TNF)α gene polymorphism with type 1 diabetes (T1D). Methods. TNF-α -1031T/C, -863C/A, -857C/T, -376G/A, -308G/A, -238G/A, and +488G/A single nucleotide polymorphisms (SNPs) were assessed in 198 T1DM patients and 180 age-and gender-matched, normoglycemic control subjects using PCR-restriction fragment length polymorphism (RFLP). Results. Higher frequencies of -863A (p = 8.0 × 10^-6 ), -857T (p = 1.4 × 10^-4 ), and -238A (p = 0.002) alleles were seen in T1D patients than in the control group. Significant differences were noted in the distribution of -863T/C, -857C/T, -376G/A, -308G/A,… More >