Manuela Uda

@article{danjou_genome-wide_2015,

title = {Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels},

author = {Fabrice Danjou and Magdalena Zoledziewska and Carlo Sidore and Maristella Steri and Fabio Busonero and Andrea Maschio and Antonella Mulas and Lucia Perseu and Susanna Barella and Eleonora Porcu and Giorgio Pistis and Maristella Pitzalis and Mauro Pala and Stephan Menzel and Sarah Metrustry and Timothy D Spector and Lidia Leoni and Andrea Angius and Manuela Uda and Paolo Moi and Swee Lay Thein and Renzo Galanello and Gon{ç}alo R Abecasis and David Schlessinger and Serena Sanna and Francesco Cucca},

doi = {10.1038/ng.3307},

issn = {1546-1718},

year  = {2015},

date = {2015-11-01},

journal = {Nature Genetics},

volume = {47},

number = {11},

pages = {1264--1271},

abstract = {We report genome-wide association study results for the levels of A1, A2 and fetal hemoglobins, analyzed for the first time concurrently. Integrating high-density array genotyping and whole-genome sequencing in a large general population cohort from Sardinia, we detected 23 associations at 10 loci. Five signals are due to variants at previously undetected loci: MPHOSPH9, PLTP-PCIF1, ZFPM1 (FOG1), NFIX and CCND3. Among the signals at known loci, ten are new lead variants and four are new independent signals. Half of all variants also showed pleiotropic associations with different hemoglobins, which further corroborated some of the detected associations and identified features of coordinated hemoglobin species production.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{benyamin_novel_2014,

title = {Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis},

author = {Beben Benyamin and Tonu Esko and Janina S Ried and Aparna Radhakrishnan and Sita H Vermeulen and Michela Traglia and Martin G{ö}gele and Denise Anderson and Linda Broer and Clara Podmore and Jian'an Luan and Zoltan Kutalik and Serena Sanna and Peter van der Meer and Toshiko Tanaka and Fudi Wang and Harm-Jan Westra and Lude Franke and Evelin Mihailov and Lili Milani and Jonas H{ä}lldin and Jonas H{ä}ldin and Juliane Winkelmann and Thomas Meitinger and Joachim Thiery and Annette Peters and Melanie Waldenberger and Augusto Rendon and Jennifer Jolley and Jennifer Sambrook and Lambertus A Kiemeney and Fred C Sweep and Cinzia F Sala and Christine Schwienbacher and Irene Pichler and Jennie Hui and Ayse Demirkan and Aaron Isaacs and Najaf Amin and Maristella Steri and G{é}rard Waeber and Niek Verweij and Joseph E Powell and Dale R Nyholt and Andrew C Heath and Pamela A F Madden and Peter M Visscher and Margaret J Wright and Grant W Montgomery and Nicholas G Martin and Dena Hernandez and Stefania Bandinelli and Pim van der Harst and Manuela Uda and Peter Vollenweider and Robert A Scott and Claudia Langenberg and Nicholas J Wareham and InterAct Consortium and Cornelia van Duijn and John Beilby and Peter P Pramstaller and Andrew A Hicks and Willem H Ouwehand and Konrad Oexle and Christian Gieger and Andres Metspalu and Clara Camaschella and Daniela Toniolo and Dorine W Swinkels and John B Whitfield},

doi = {10.1038/ncomms5926},

issn = {2041-1723},

year  = {2014},

date = {2014-10-01},

journal = {Nature Communications},

volume = {5},

pages = {4926},

abstract = {Variation in body iron is associated with or causes diseases, including anaemia and iron overload. Here, we analyse genetic association data on biochemical markers of iron status from 11 European-population studies, with replication in eight additional cohorts (total up to 48,972 subjects). We find 11 genome-wide-significant (P<5 × 10(-8)) loci, some including known iron-related genes (HFE, SLC40A1, TF, TFR2, TFRC, TMPRSS6) and others novel (ABO, ARNTL, FADS2, NAT2, TEX14). SNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis. There is substantial overlap between our iron loci and loci affecting erythrocyte and lipid phenotypes. These results will facilitate investigation of the roles of iron in disease.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{terracciano_genetics_2013,

title = {Genetics of serum BDNF: meta-analysis of the Val66Met and genome-wide association study},

author = {Antonio Terracciano and Maria Grazia Piras and Monia Lobina and Antonella Mulas and Osorio Meirelles and Angelina R Sutin and Wayne Chan and Serena Sanna and Manuela Uda and Laura Crisponi and David Schlessinger},

doi = {10.3109/15622975.2011.616533},

issn = {1814-1412},

year  = {2013},

date = {2013-12-01},

journal = {The World Journal of Biological Psychiatry: The Official Journal of the World Federation of Societies of Biological Psychiatry},

volume = {14},

number = {8},

pages = {583--589},

abstract = {OBJECTIVES: Lower levels of serum brain derived neurotrophic factor (BDNF) is one of the best known biomarkers of depression. To identify genetic variants associated with serum BDNF, we tested the Val66Met (rs6265) functional variant and conducted a genome-wide association scan (GWAS). METHODS: In a community-based sample (N = 2054; aged 19-101},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{sutin_impulsivity-related_2012,

title = {Impulsivity-related traits are associated with higher white blood cell counts},

author = {Angelina R Sutin and Yuri Milaneschi and Alessandra Cannas and Luigi Ferrucci and Manuela Uda and David Schlessinger and Alan B Zonderman and Antonio Terracciano},

doi = {10.1007/s10865-011-9390-0},

issn = {1573-3521},

year  = {2012},

date = {2012-12-01},

journal = {Journal of Behavioral Medicine},

volume = {35},

number = {6},

pages = {616--623},

abstract = {A chronically elevated white blood cell (WBC) count is a risk factor for morbidity and mortality. The present research tests whether facets of impulsivity-impulsiveness, excitement-seeking, self-discipline, and deliberation-are associated with chronically elevated WBC counts. Community-dwelling participants (N = 5,652) from Sardinia, Italy, completed a standard personality questionnaire and provided blood samples concurrently and again 3 years later. Higher scores on impulsivity, in particular impulsiveness and excitement-seeking, were related to higher total WBC counts and higher lymphocyte counts at both time points. Impulsiveness was a predictor of chronic inflammation: for every standard deviation difference in this trait, there was an almost 25% higher risk of elevated WBC counts at both time points (OR = 1.23, 95% CI = 1.10-1.38). These associations were mediated, in part, by smoking and body mass index. The findings demonstrate that links between psychological processes and immunity are not limited to acute stressors; stable personality dispositions are associated with a chronic inflammatory state.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{van_der_harst_seventy-five_2012,

title = {Seventy-five genetic loci influencing the human red blood cell},

author = {van der Harst, Pim and Zhang, Weihua and {Mateo Leach}, Irene and Rendon, Augusto and Verweij, Niek and Sehmi, Joban and Paul, Dirk S and Elling, Ulrich and Allayee, Hooman and Li, Xinzhong and Radhakrishnan, Aparna and Tan, Sian-Tsung and ... and Sanna, Serena and Uda, Manuela and Hicks, Andrew A and Penninger, Josef Martin and Gieger, Christian and Kooner, Jaspal S and Ouwehand, Willem H and Soranzo, Nicole and Chambers, John C},

doi = {10.1038/nature11677},

issn = {1476-4687},

year  = {2012},

date = {2012-12-01},

journal = {Nature},

volume = {492},

number = {7429},

pages = {369--375},

abstract = {Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cells, we carried out a genome-wide association study of haemoglobin concentration and related parameters in up to 135,367 individuals. Here we identify 75 independent genetic loci associated with one or more red blood cell phenotypes at P < 10(-8), which together explain 4-9% of the phenotypic variance per trait. Using expression quantitative trait loci and bioinformatic strategies, we identify 121 candidate genes enriched in functions relevant to red blood cell biology. The candidate genes are expressed preferentially in red blood cell precursors, and 43 have haematopoietic phenotypes in Mus musculus or Drosophila melanogaster. Through open-chromatin and coding-variant analyses we identify potential causal genetic variants at 41 loci. Our findings provide extensive new insights into genetic mechanisms and biological pathways controlling red blood cell formation and function.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}