Sandra Lai
- Genetic Associations and Epidemiology
- T-cell and B-cell Immunology
- Food Safety and Hygiene
- Salmonella and Campylobacter epidemiology
- Legionella and Acanthamoeba research
- Immune Cell Function and Interaction
- Folate and B Vitamins Research
- Listeria monocytogenes in Food Safety
- Nutrition, Genetics, and Disease
- Thyroid Disorders and Treatments
- Bacterial biofilms and quorum sensing
- Gout, Hyperuricemia, Uric Acid
- Hormonal Regulation and Hypertension
- Immunotherapy and Immune Responses
- Multiple Sclerosis Research Studies
- Diabetes and associated disorders
- Probiotics and Fermented Foods
- Platelet Disorders and Treatments
- Hemoglobinopathies and Related Disorders
- Cell Adhesion Molecules Research
- Blood groups and transfusion
- Growth Hormone and Insulin-like Growth Factors
- Antibiotic Resistance in Bacteria
- Vibrio bacteria research studies
- Wnt/β-catenin signaling in development and cancer
Institute of Genetic and Biomedical Research
2013-2025
National Research Council
2014-2025
UK Health Security Agency
2021-2024
Public Health England
2006-2021
National Institute on Aging
2009
National Institutes of Health
2009
United States Department of Veterans Affairs
2009
University of Maryland, Baltimore
2009
Statistical Research (United States)
2009
University of Michigan–Ann Arbor
2009
The obesity epidemic is responsible for a substantial economic burden in developed countries and major risk factor type 2 diabetes cardiovascular disease. disease the result not only of several environmental factors, but also genetic predisposition. To take advantage recent advances gene-mapping technology, we executed genome-wide association scan to identify variants associated with obesity-related quantitative traits genetically isolated population Sardinia. Initial analysis suggested that...
beta-Thalassemia and sickle cell disease both display a great deal of phenotypic heterogeneity, despite being generally thought as simple Mendelian diseases. The reasons for this are not well understood, although the level fetal hemoglobin (HbF) is one characterized ameliorating factor in these conditions. To better understand genetic basis we carried out genome-wide scans with 362,129 common SNPs on 4,305 Sardinians to look linkage association HbF levels, other red blood cell-related...
In family studies, phenotypic similarities between relatives yield information on the overall contribution of genes to trait variation. Large samples are important for these especially when comparing heritability subgroups such as young and old, or males females. We recruited a cohort 6,148 participants, aged 14–102 y, from four clustered towns in Sardinia. The includes 34,469 relative pairs. To extract genetic information, we implemented software variance components analysis, designed...
Genomewide association studies of autoimmune diseases have mapped hundreds susceptibility regions in the genome. However, only for a few signals has causal gene been identified, and even fewer variant underlying mechanism defined. Coincident associations DNA variants affecting both risk disease quantitative immune variables provide an informative route to explore mechanisms drug-targetable pathways.Using case-control samples from Sardinia, Italy, we performed genomewide study multiple...
High serum uric acid levels elevate pro-inflammatory–state gout crystal arthropathy and place individuals at high risk for cardiovascular morbidity mortality. Genome-wide scans in the genetically isolated Sardinian population identified variants associated with as a quantitative trait. They mapped within GLUT9, Chromosome 4 glucose transporter gene predominantly expressed liver kidney. SNP rs6855911 showed strongest association (p = 1.84 × 10−16), along eight others 7.75 10−16 to 6.05...
Identifying the genes that influence levels of pro-inflammatory molecules can help to elucidate mechanisms underlying this process. We first conducted a two-stage genome-wide association scan (GWAS) for key inflammatory biomarkers Interleukin-6 (IL-6), general measure inflammation erythrocyte sedimentation rate (ESR), monocyte chemotactic protein-1 (MCP-1), and high-sensitivity C-reactive protein (hsCRP) in large cohort individuals from founder population Sardinia. By analysing 731,213...
Genetic variation within the male-specific portion of Y chromosome (MSY) can clarify origins contemporary populations, but previous studies were hampered by partial genetic information. Population sequencing 1204 Sardinian males identified 11,763 MSY single-nucleotide polymorphisms, 6751 which have not previously been observed. We constructed a phylogenetic tree containing all main haplogroups found in Europe, along with many Sardinian-specific lineage clusters each haplogroup. The was...
Bilirubin, resulting largely from the turnover of hemoglobin, is found in plasma two main forms: unconjugated or conjugated with glucuronic acid. Unconjugated bilirubin transported into hepatocytes. There, it glucuronidated by UGT1A1 and secreted bile canaliculi. We report a genome wide association scan 4300 Sardinian individuals for total serum levels. In addition to known loci previously involved regulation levels, (P = 6.2 × 10−62) G6PD 2.5 10−8), we observed strong on chromosome 12...
Pulse wave velocity (PWV), a noninvasive index of central arterial stiffness, is potent predictor cardiovascular mortality and morbidity. Heritability linkage studies have pointed toward genetic component affecting PWV. We conducted genome-wide association study to identify single-nucleotide polymorphisms (SNPs) associated with PWV.The cohort included participants from the SardiNIA for whom PWV measures were available. Genotyping was performed in 4221 individuals, using either Affymetrix...
To perform an international trial to derive alert and action levels for the use of quantitative PCR (qPCR) in monitoring Legionella determine effectiveness control measures against legionellae. Laboratories (7) participated from six countries. Legionellae were determined by culture qPCR methods with comparable detection limits. Systems monitored over ≥10 weeks. For cooling towers (232 samples), there was a significant difference between log mean (GU l(-1) ) (CFU pneumophila (0·71) spp....
ABSTRACT The TYK2 :p.Pro1104Ala (rs34536443) hypomorph variant has been associated with protection against numerous autoimmune disorders. Thus, its mechanism of action becomes great interest. Here, consistent the participation activated immune cells in autoimmunity, we show that regulates levels at a human, general population level and is particularly higher T B lymphocytes, especially naïve (non‐activated) compartment. Also, protective function regulatory CD4+ was increased. this decreases...