Giorgia Girotto
'%3e%3cpath%20d='M22.1642%2019.0924C21.7317%2018.068%2021.1041%2017.1375%2020.3163%2016.3527C19.5309%2015.5656%2018.6006%2014.9381%2017.5766%2014.5048C17.5674%2014.5002%2017.5582%2014.4979%2017.5491%2014.4933C18.9774%2013.4616%2019.9059%2011.7811%2019.9059%209.88504C19.9059%206.74408%2017.3611%204.19922%2014.2201%204.19922C11.0792%204.19922%208.53429%206.74408%208.53429%209.88504C8.53429%2011.7811%209.46282%2013.4616%2010.8912%2014.4956C10.882%2014.5002%2010.8728%2014.5025%2010.8636%2014.5071C9.83652%2014.9404%208.91487%2015.5617%208.1239%2016.355C7.33685%2017.1404%206.70933%2018.0707%206.276%2019.0947C5.85031%2020.0972%205.62072%2021.172%205.59967%2022.2609C5.59905%2022.2853%205.60335%2022.3097%205.61229%2022.3325C5.62123%2022.3553%205.63465%2022.376%205.65174%2022.3935C5.66883%2022.4111%205.68926%2022.425%205.71182%2022.4345C5.73437%2022.444%205.7586%2022.4489%205.78308%2022.4489H7.15868C7.25956%2022.4489%207.3398%2022.3686%207.3421%2022.2701C7.38795%2020.5001%208.09868%2018.8425%209.35506%2017.5861C10.655%2016.2862%2012.3814%2015.5709%2014.2201%2015.5709C16.0588%2015.5709%2017.7852%2016.2862%2019.0852%2017.5861C20.3415%2018.8425%2021.0523%2020.5001%2021.0981%2022.2701C21.1004%2022.3709%2021.1807%2022.4489%2021.2815%2022.4489H22.6571C22.6816%2022.4489%2022.7058%2022.444%2022.7284%2022.4345C22.751%2022.425%2022.7714%2022.4111%2022.7885%2022.3935C22.8056%2022.376%2022.819%2022.3553%2022.8279%2022.3325C22.8369%2022.3097%2022.8412%2022.2853%2022.8406%2022.2609C22.8176%2021.165%2022.5907%2020.0989%2022.1642%2019.0924ZM14.2201%2013.8284C13.1678%2013.8284%2012.1773%2013.418%2011.4322%2012.6729C10.6871%2011.9278%2010.2767%2010.9374%2010.2767%209.88504C10.2767%208.83271%2010.6871%207.84227%2011.4322%207.09715C12.1773%206.35204%2013.1678%205.94165%2014.2201%205.94165C15.2724%205.94165%2016.2629%206.35204%2017.008%207.09715C17.7531%207.84227%2018.1635%208.83271%2018.1635%209.88504C18.1635%2010.9374%2017.7531%2011.9278%2017.008%2012.6729C16.2629%2013.418%2015.2724%2013.8284%2014.2201%2013.8284Z'%20fill='%238590A2'/%3e%3c/g%3e%3c/svg%3e)
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Academic Career Length
18Years (2009-Present)
(Calculated once Scilit publication data is synced: current year − year of first publication + 1)
Representative Publications
View All Publications17 September 2018 in Nature Genetics
Journal Article
TPThe Million Veteran Program
The Million Veteran Program
EEEvangelos Evangelou
Evangelos EvangelouHWHelen R. Warren
Helen R. Warren
DMDavid Mosen-Ansorena
David Mosen-Ansorena
BMBorbala Mifsud
Borbala MifsudMCMark Caulfield
Mark Caulfield +275
High blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease. We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in over 1 million people of European ancestry. We identify 535 novel blood pressure loci that not only offer new biological insights into blood pressure regulation but also highlight shared genetic architecture between blood pressure and lifestyle exposures. Our findings identify new biological pathways for blood pressure regulation with potential for improved cardiovascular disease prevention in the future.
11 May 2016 in Nature
Journal Article
AOAysu Okbay
Aysu Okbay
JBJonathan P. Beauchamp
Jonathan P. Beauchamp
MFMark Alan Fontana
Mark Alan Fontana
JLJames J. Lee
James J. Lee
TPTune H. Pers
Tune H. PersDBDaniel J. Benjamin
Daniel J. Benjamin
+250
Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals1. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample1,2 of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.
31 May 2019 in Nature Genetics
Journal Article
LSLifelines Cohort Study
Lifelines Cohort Study
MWMatthias Wuttke
Matthias WuttkeVPV. A. Million Veteran Program
V. A. Million Veteran Program
YLYong Li
Yong LiMLMan Li
Man LiCPCristian Pattaro
Cristian Pattaro +322
Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through trans-ancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these, 147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.
1 February 2017 in Nature
Journal Article
EMEirini Marouli
Eirini MarouliMGMariaelisa Graff
Mariaelisa Graff
CGCarolina Medina Gomez
Carolina Medina GomezKLKen Sin Lo
Ken Sin Lo
AWAndrew R. Wood
Andrew R. Wood
GLGuillaume Lettre
Guillaume Lettre +365
Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1–4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height-increasing alleles of STC2 (giving an increase of 1–2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.
28 September 2015 in Nature Genetics
Journal Article
TCThe PRACTICAL Consortium
The PRACTICAL Consortium
FDFelix R Day
Felix R DayKIkConFab Investigators
kConFab Investigators
AIAOCS Investigators
AOCS Investigators
GSGeneration Scotland
Generation Scotland
AMAnna Murray
Anna Murray +241
John Perry and colleagues report the results of a large genome-wide association study meta-analysis to identify variants influencing age at natural menopause. They identify 54 independent signals and find enrichment near genes involved in delayed puberty and DNA damage response. Menopause timing has a substantial impact on infertility and risk of disease, including breast cancer, but the underlying mechanisms are poorly understood. We report a dual strategy in ∼70,000 women to identify common and low-frequency protein-coding variation associated with age at natural menopause (ANM). We identified 44 regions with common variants, including two regions harboring additional rare missense alleles of large effect. We found enrichment of signals in or near genes involved in delayed puberty, highlighting the first molecular links between the onset and end of reproductive lifespan. Pathway analyses identified major association with DNA damage response (DDR) genes, including the first common coding variant in BRCA1 associated with any complex trait. Mendelian randomization analyses supported a causal effect of later ANM on breast cancer risk (∼6% increase in risk per year; P = 3 × 10−14), likely mediated by prolonged sex hormone exposure rather than DDR mechanisms.
2 October 2019 in Nature Genetics
Journal Article
GSGerman Chronic Kidney Disease Study
German Chronic Kidney Disease Study
ATAdrienne Tin
Adrienne TinLSLifelines Cohort Study
Lifelines Cohort Study
VPV. A. Million Veteran Program
V. A. Million Veteran Program
JMJonathan Marten
Jonathan MartenAKAnna Köttgen
Anna Köttgen +222
About Me
Giorgia Girotto, PhD, is a Researcher at the Medical Genetics unit at the University of Trieste and Biologist manager at the Medical Genetics unit - Dipartimento dei Servizi e di Diagnostica avanzata -Children Hospital IRCCS-Burlo Garofolo. She has been involved in mapping disease genes for underlying complex and quantitative traits and she has contributed to the identification of some novel mutations/genes for inherited and complex forms of hearing loss. Together with her team is responsible for the project on inherited and complex forms of hearing loss (leading the International consortium G-EAR) in families and populations coming from Italy, Caucasus, Central Asia, and Gulf region (the last one in collaboration with Hamad Medical Corporation and Sidra Medical Hospital). During her career she spent some time working at the National Institute for Medical Research (London), at the Welcome trust Sanger Institute (Cambridge-UK), at the CRG (Barcelona, Spain) at the MRC (Harwell, Oxford) and at the Sidra Medical Research (Doha, Qatar). During 2010 and 2012 she participated to the “Marcopolo scientific expedition” where she collected samples and she performed audiometric test along the Silk Road. She already gave several speeches to National and International meetings in the field of Human and Medical Genetics. Together with her team, she received four International awards, and published more than 70 manuscripts on peer reviewed journals of the field. In 2015 and 2016, she was aw