Marco Brumat
YOU?
Author Swipe
View article: Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity
Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity Open
Many genetic loci affect circulating lipid levels, but it remains unknown whether lifestyle factors, such as physical activity, modify these genetic effects. To identify lipid loci interacting with physical activity, we performed genome-wi…
View article: Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries Open
Heavy alcohol consumption is an established risk factor for hypertension; the mechanism by which alcohol consumption impact blood pressure (BP) regulation remains unknown. We hypothesized that a genome-wide association study accounting for…
View article: Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color Open
A GWAS including 192,986 European and 1636 Asian participants identifies 50 novel discrete associations with eye color.
F cell numbers are associated with an X‐linked genetic polymorphism and correlate with haematological parameters in patients with sickle cell disease Open
Summary Patients with sickle cell disease (SCD) with high fetal haemoglobin (HbF) tend to have a lower incidence of complications and longer survival due to inhibition of deoxyhaemoglobin S (HbS) polymerisation by HbF. HbF‐containing cells…
COVID-19 experience: first Italian survey on healthcare staff members from a Mother-Child Research Hospital using combined molecular and rapid immunoassays test Open
The fast spread of the novel coronavirus (SARS-CoV-2) has become a global threat hitting the worldwide fragile health care system. In Italy, there is a continued COVID-19 growth of cases and deaths that requires control measures for the co…
View article: Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk Open
The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Using 1000 Genomes Project-imputed genotype data in up to similar to 370,000 women, we identify 389 independent s…
HIGH-THROUGHPUT DATA ANALYSIS OF HEARING PHENOTYPES ON 9000 SUBJECTS FROM TEN COHORTS AND IN 200.000 INDIVIDUALS FROM UK BIOBANK Open
La funzione uditiva (Normal Hearing Function - NHF) e il suo declino dovuto all’età (la presbiacusia, o Age-Related Hearing Loss - ARHL) sono influenzati sia da fattori ambientali che da fattori genetici, ma quali siano esattamente i geni …
A bird’s-eye view of Italian genomic variation through whole-genome sequencing Open
The genomic variation of the Italian peninsula populations is currently under characterised: the only Italian whole-genome reference is represented by the Tuscans from the 1000 Genome Project. To address this issue, we sequenced a total of…
View article: Associations of autozygosity with a broad range of human phenotypes
Associations of autozygosity with a broad range of human phenotypes Open
In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close re…
Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment Open
Previous research has shown that genes play a substantial role in determining a person’s susceptibility to age-related hearing impairment. The existing studies on this subject have different results, which may be caused by difficulties in …
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels Open
Elevated serum urate levels cause gout and correlate with cardiometabolic diseases via poorly understood mechanisms. We performed a trans-ancestry genome-wide association study of serum urate in 457,690 individuals, identifying 183 loci (1…
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. Open
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 pe…
Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss Open
Age-related hearing loss (ARHL) is the most common sensory impairment in the elderly affecting millions of people worldwide. To shed light on the genetics of ARHL, a large cohort of 464 Italian patients has been deeply characterized at cli…
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations Open
Hereditary hearing loss (HHL) is a common disorder characterized by a huge genetic heterogeneity. The definition of a correct molecular diagnosis is essential for proper genetic counseling, recurrence risk estimation, and therapeutic optio…
View article: Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries Open
Heavy alcohol consumption is an established risk factor for hypertension; the mechanism by which alcohol consumption impact blood pressure (BP) regulation remains unknown. We hypothesized that a genome-wide association study accounting for…
View article: Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K i
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K i Open
Heavy alcohol consumption is an established risk factor for hypertension; the mechanism by which alcohol consumption impact blood pressure (BP) regulation remains unknown. We hypothesized that a genome-wide association study accounting for…