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1. Distribution of killer cell immunoglobulin-like receptors genes in the Italian Caucasian population

Author

Mariani M, Malagoli A, Lombardo C, Iannone AM, Frison S, Dametto E, Cosentini E, Chiesa A, Carcassi C, Martinetti M, Cuccia MC, Testi M, Bontadini A, Mariotti L, Mascaretti L, Mele L, Miotti V, Nesci S, Ozzella G, Piancatelli D, Romeo G, Tagliaferri C, Vatta S, Andreani M, and Conte R

Subjects
Medicine
Abstract

Abstract Background Killer cell immunoglobulin-like receptors (KIRs) are a family of inhibitory and activatory receptors that are expressed by most natural killer (NK) cells. The KIR gene family is polymorphic: genomic diversity is achieved through differences in gene content and allelic polymorphism. The number of KIR loci has been reported to vary among individuals, resulting in different KIR haplotypes. In this study we report the genotypic structure of KIRs in 217 unrelated healthy Italian individuals from 22 immunogenetics laboratories, located in the northern, central and southern regions of Italy. Methods Two hundred and seventeen DNA samples were studied by a low resolution PCR-SSP kit designed to identify all KIR genes. Results All 17 KIR genes were observed in the population with different frequencies than other Caucasian and non-Caucasian populations; framework genes KIR3DL3, KIR3DP1, KIR2DL4 and KIR3DL2 were present in all individuals. Sixty-five different profiles were found in this Italian population study. Haplotype A remains the most prevalent and genotype 1, with a frequency of 28.5%, is the most commonly observed in the Italian population. Conclusion The Italian Caucasian population shows polymorphism of the KIR gene family like other Caucasian and non-Caucasian populations. Although 64 genotypes have been observed, genotype 1 remains the most frequent as already observed in other populations. Such knowledge of the KIR gene distribution in populations is very useful in the study of associations with diseases and in selection of donors for haploidentical bone marrow transplantation.

Published
2006
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6. The distribution of KIR-HLA functional blocks is different from North to South of Italy

Author

Fasano, M. E., Rendine, S., Pasi, A., Bontadini, A., Cosentini, E., Carcassi, C., Capittini, C., Cornacchini, G., de Arias, Espadas A., Garbarino, L., Carella, G., Mariotti, M. L., Mele, L., Miotti, V., Moscetti, A., Nesci, S., Ozzella, G., Piancatelli, D., Porfirio, B., Riva, M. R., Romeo, G., Tagliaferri, C., Lombardo, C., Testi, M., Amoroso, A., and Martinetti, M.

Published
2014
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37. Paroxysmal nocturnal hemoglobinuria: significant association with specific HLA-A, -B, -C, and -DR alleles in an Italian population

Author

Lombardi ML, Terrazzano G, Cosentini E, Gargiulo L, Camerlingo R, Sica M, Aufiero D, Poggi A, Pirozzi G, Luzzatto L, Rotoli B, Notaro R, Alfinito F, RUGGIERO, GIUSEPPINA, RISITANO, ANTONIO MARIA, Lombardi, Ml, Terrazzano, G, Cosentini, E, Gargiulo, L, Risitano, ANTONIO MARIA, Camerlingo, R, Sica, M, Aufiero, D, Poggi, A, Pirozzi, G, Luzzatto, L, Rotoli, B, Notaro, R, Alfinito, F, and Ruggiero, Giuseppina

Published
2008

43. Clinical and genetic aspects of psoriatic arthritis 'sine psoriasis'

Author

Scarpa, R., Cosentini, E., Manguso, F., Oriente, A., Peluso, R., Atteno, M., Fabio Ayala, D Arienzo, A., Oriente, P., Scarpa, Raffaele, E., Cosentini, F., Manguso, A., Oriente, Peluso, Rosario, M., Atteno, Ayala, Fabio, A., D'Arienzo, and P., Oriente

Subjects
Adult, Family Health, Male, Histocompatibility Testing, Arthritis, Psoriatic, HLA-C Antigens, Tenosynovitis, Middle Aged, artrite, Finger Joint, Aspetti genetici, Humans, Psoriasis, Family, Female, Genetic Predisposition to Disease, HLA-B27 Antigen, psoriasi
Abstract

To characterize the clinical pattern of psoriatic arthritis (PsA) sine psoriasis.Fifty-seven patients (31 men, 26 women, mean age 46.32 +/- 14.12 yrs) with undifferentiated spondyloarthropathy (SpA) were studied. Two subsets were defined: (1) 21 patients with familial psoriasis (12 men, 9 women, mean age 49.29 +/- 14.17 yrs); (2) 36 patients without familial psoriasis (19 men, 17 women, mean age 44.58 +/- 14.00 yrs). The prevalence of the following clinical variables was evaluated: low back pain, enthesopathy, dactylitis, distal interphalangeal (DIP) arthritis, spinal involvement, and discitis. In all patients the following HLA haplotypes were tested: B7, B13, B17, B18, B27, B38, Cw6, and DR7.Dactylitis and DIP arthritis were markedly present in the articular subset with familial psoriasis (p0.0001) that also showed a high frequency rate of HLA-Cw6 (p0.0001 vs controls and patients without familial psoriasis). HLA-B27 was markedly frequent in patients without familial psoriasis (p0.0001 vs controls and p = 0.019 vs patients with familial psoriasis). In addition, in patients with familial psoriasis the log-linear model showed that the presence of HLA-Cw6 was related to the presence of DIP arthritis as well as dactylitis (likelihood ratio chi-square change of 5.891 and p = 0.015).A subset of patients with PsA "sine psoriasis" is identified by the occurrence of a SpA with dactylitis and/or DIP arthritis, presence of HLA-Cw6, and familial psoriasis in first or second-degree relatives.

Published
2004

50. Effect of growth factors on epithelial restitution of human colonic mucosa in vitro

Author

E Wenzl, Martin Riegler, G Bischof, W Feil, B Teleky, Cosentini E, G Hamilton, Sogukoglu T, R. Schiessel, and R Sedivy

Subjects
medicine.medical_specialty, Enterocyte, Colon, medicine.medical_treatment, Basic fibroblast growth factor, Biology, In Vitro Techniques, Epithelium, Statistics, Nonparametric, chemistry.chemical_compound, Epidermal growth factor, Internal medicine, medicine, Humans, Insulin-Like Growth Factor I, Intestinal Mucosa, Growth Substances, Incubation, Epidermal Growth Factor, Growth factor, Gastroenterology, Biological activity, Molecular biology, In vitro, Electrophysiology, medicine.anatomical_structure, Endocrinology, chemistry, Fibroblast Growth Factor 2
Abstract

Epithelial restitution enables resurfacing of epithelial discontinuities by enterocyte migration. This study investigated the effect of basic fibroblast growth factor (bFGF), insulin-like growth factor (IGF-1), and epidermal growth factor (EGF) on restitution of human colonic mucosa in vitro.After base-line incubation human colonic mucosal strips, mounted in Ussing chambers, were luminally exposed to 0.5 mM sodium deoxycholate (NaDOC) for 10 min. Thereafter tissues were incubated with buffer alone or luminal buffer containing various concentrations of bFGF, IGF-1, and EGF for 3 h. Resistance (R) was calculated from potential difference (PD) and short-circuit current (Isc). All tissues were processed for light microscopy. Extent of damage was measured by morphometry.Luminal 0.5 mM NaDOC for 10 min caused R to drop by 43% (n = 4; P0.05). Compared with controls 50 ng/ml EGF induced an approximately 30% R increase until the end of the experiments (P0.05, n = 4, paired). Ten minutes after injury 50.2 +/- 4% of the mucosa was damaged (n = 6), and after 3 h damage was significantly reduced by EGF (17.2 +/- 3% versus 31.7 +/- 4%, 50 ng/ml EGF versus controls) (P0.05, n = 6 per group). Histology showed that EGF stimulated enterocyte migration over the basal lamina. Various doses of bFGF and IGF-1 did not impair restitution when compared with controls.In contrast to bFGF and IGF-1, EGF was shown to promote epithelial restitution of human colonic mucosa in vitro.

Published
1997

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