Annalisa Loizedda

@article{pmid32929287,

title = {Complex genetic signatures in immune cells underlie autoimmunity and inform therapy},

author = {V Orrù and M Steri and C Sidore and M Marongiu and V Serra and S Olla and G Sole and S Lai and M Dei and A Mulas and F Virdis and MG Piras and M Lobina and M Marongiu and M Pitzalis and F Deidda and A Loizedda and S Onano and M Zoledziewska and S Sawcer and M Devoto and M Gorospe and GR Abecasis and M Floris and M Pala and D Schlessinger and E Fiorillo and F Cucca},

doi = {10.1038/s41588-020-0684-4},

year  = {2020},

date = {2020-01-01},

urldate = {2020-01-01},

journal = {Nat Genet},

volume = {52},

number = {10},

pages = {1036--1045},

abstract = {We report on the influence of ~22 million variants on 731 immune cell traits in a cohort of 3,757 Sardinians. We detected 122 significant (P < 1.28 × 10-11) independent association signals for 459 cell traits at 70 loci (53 of them novel) identifying several molecules and mechanisms involved in cell regulation. Furthermore, 53 signals at 36 loci overlapped with previously reported disease-associated signals, predominantly for autoimmune disorders, highlighting intermediate phenotypes in pathogenesis. Collectively, our findings illustrate complex genetic regulation of immune cells with highly selective effects on autoimmune disease risk at the cell-subtype level. These results identify drug-targetable pathways informing the design of more specific treatments for autoimmune diseases.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Pisanu2019,

title = {Whole Genome Expression Analyses of miRNAs and mRNAs Suggest the Involvement of miR-320a and miR-155-3p and their Targeted Genes in Lithium Response in Bipolar Disorder},

author = {Pisanu Claudia and Merkouri Papadima Eleni and Melis Carla and Congiu Donatella and Loizedda Annalisa and Orrù Nicola and Calza Stefano and Orrù Sandro and Carcassi Carlo and Severino Giovanni and Ardau Raffaella and Chillotti Caterina and Del Zompo Maria and Squassina Alessio},

url = {https://doi.org/10.3390/ijms20236040},

doi = {10.3390/ijms20236040},

year  = {2019},

date = {2019-01-01},

journal = {International Journal of Molecular Sciences},

volume = {20},

number = {23},

pages = {6040},

publisher = {MDPI AG},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid28842640,

title = {Cross sectional evaluation of the gut-microbiome metabolome axis in an Italian cohort of IBĐ patients},

author = {Santoru, M. L. and Piras, C. and Murgia, A. and Palmas, V. and Camboni, T. and Liggi, S. and Ibba, I. and Lai, M. A. and Orru, S. and Loizedda, A. L. and Griffin, J. L. and Usai, P. and Caboni, P. and Atzori, L. and Manzin, A.},

year  = {2017},

date = {2017-01-01},

journal = {Sci Rep},

volume = {7},

number = {1},

pages = {9523},

abstract = {Inflammatory bowel disease (IBD) is a chronic inflammatory disease of the gastrointestinal tract of uncertain origin, which includes ulcerative colitis (UC) and Crohn's disease (CD). The composition of gut microbiota may change in IBD affected individuals, but whether dysbiosis is the cause or the consequence of inflammatory processes in the intestinal tissue is still unclear. Here, the composition of the microbiota and the metabolites in stool of 183 subjects (82 UC, 50 CD, and 51 healthy controls) were determined. The metabolites content and the microbiological profiles were significantly different between IBD and healthy subjects. In the IBD group, Firmicutes, Proteobacteria, Verrucomicrobia, and Fusobacteria were significantly increased, whereas Bacteroidetes and Cyanobacteria were decreased. At genus level Escherichia, Faecalibacterium, Streptococcus, Sutterella and Veillonella were increased, whereas Bacteroides, Flavobacterium, and Oscillospira decreased. Various metabolites including biogenic amines, amino acids, lipids, were significantly increased in IBD, while others, such as two B group vitamins, were decreased in IBD compared to healthy subjects. This study underlines the potential role of an inter-omics approach in understanding the metabolic pathways involved in IBD. The combined evaluation of metabolites and fecal microbiome can be useful to discriminate between healthy subjects and patients with IBD.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{mitropoulos_genomic_2017,

title = {Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients.},

author = {Mitropoulos, Konstantinos and Merkouri Papadima, Eleni and Xiromerisiou, Georgia and Balasopoulou, Angeliki and Charalampidou, Kyriaki and Galani, Vasiliki and Zafeiri, Krystallia-Vassiliki and Dardiotis, Efthymios and Ralli, Styliani and Deretzi, Georgia and John, Anne and Kydonopoulou, Kyriaki and Papadopoulou, Elpida and di Pardo, Alba and Akcimen, Fulya and Loizedda, Annalisa and Dobricic, Valerija and Novakovic, Ivana and Kostic, Vladimir S. and Mizzi, Clint and Peters, Brock A. and Basak, Nazli and Orru, Sandro and Kiskinis, Evangelos and Cooper, David N. and Gerou, Spyridon and Drmanac, Radoje and Bartsakoulia, Marina and Tsermpini, Evangelia-Eirini and Hadjigeorgiou, Georgios M. and Ali, Bassam R. and Katsila, Theodora and Patrinos, George P.},

doi = {10.1186/s40246-017-0126-2},

issn = {1479-7364 1473-9542},

year  = {2017},

date = {2017-01-01},

journal = {Hum Genomics},

volume = {11},

number = {1},

pages = {30},

abstract = {BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a devastating disease whose complex pathology has been associated with a strong genetic component in the context of both familial and sporadic disease. Herein, we adopted a next-generation sequencing approach to Greek patients suffering from sporadic ALS (together with their healthy counterparts) in order to explore further the genetic basis of sporadic ALS (sALS). RESULTS: Whole-genome sequencing analysis of Greek sALS patients revealed a positive association between FTO and TBC1D1 gene variants and sALS. Further, linkage disequilibrium analyses were suggestive of a specific disease-associated haplotype for FTO gene variants. Genotyping for these variants was performed in Greek, Sardinian, and Turkish sALS patients. A lack of association between FTO and TBC1D1 variants and sALS in patients of Sardinian and Turkish descent may suggest a founder effect in the Greek population. FTO was found to be highly expressed in motor neurons, while in silico analyses predicted an impact on FTO and TBC1D1 mRNA splicing for the genomic variants in question. CONCLUSIONS: To our knowledge, this is the first study to present a possible association between FTO gene variants and the genetic etiology of sALS. In addition, the next-generation sequencing-based genomics approach coupled with the two-step validation strategy described herein has the potential to be applied to other types of human complex genetic disorders in order to identify variants of clinical significance.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}