Despoina Manousaki

ORCID: 0000-0002-4133-0618
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About
Contact & Profiles
Research Areas
  • Genetic Associations and Epidemiology
  • Vitamin D Research Studies
  • Diabetes and associated disorders
  • Pancreatic function and diabetes
  • Nutrition, Genetics, and Disease
  • Bone health and osteoporosis research
  • Growth Hormone and Insulin-like Growth Factors
  • Obesity, Physical Activity, Diet
  • RNA Research and Splicing
  • Liver Disease Diagnosis and Treatment
  • Bone fractures and treatments
  • Scoliosis diagnosis and treatment
  • Diabetes Management and Research
  • Hypothalamic control of reproductive hormones
  • Hip and Femur Fractures
  • Vitamin C and Antioxidants Research
  • Digestive system and related health
  • Birth, Development, and Health
  • Medical Imaging and Analysis
  • Amyotrophic Lateral Sclerosis Research
  • Folate and B Vitamins Research
  • Genetics and Neurodevelopmental Disorders
  • Endoplasmic Reticulum Stress and Disease
  • Connective tissue disorders research
  • Machine Learning in Bioinformatics

Université de Montréal
2014-2025

Centre Hospitalier Universitaire Sainte-Justine
2014-2024

Praevium Research (United States)
2023

Jewish General Hospital
2016-2021

McGill University
2016-2021

Centre Hospitalier de l’Université de Montréal
2020

King's College London
2016

Children's Hospital Agia Sophia
2009

The objective of the study was to evaluate long-term effect GnRH analog (GnRHa) treatment on final height (FH), body mass index (BMI), composition, bone mineral density (BMD), and ovarian function.Ninety-two females, evaluated in adulthood, were categorized as follows: group A, 47 girls with idiopathic central precocious puberty (33 GnRHa treated 14 nontreated); B, 24 isolated GH deficiency (15 nine treated); C, 21 short stature (seven treated, seven nontreated).FH, BMD, percent fat...

10.1210/jc.2009-0793 article EN cc-by The Journal of Clinical Endocrinology & Metabolism 2009-11-07

To test whether genetically decreased vitamin D levels are associated with Alzheimer disease (AD) using mendelian randomization (MR), a method that minimizes bias due to confounding or reverse causation.We selected single nucleotide polymorphisms (SNPs) strongly 25-hydroxyvitamin (25OHD) (p < 5 × 10-8) from the Study of Underlying Genetic Determinants Vitamin and Highly Related Traits (SUNLIGHT) Consortium (N = 33,996) act as instrumental variables for MR study. We measured effect each these...

10.1212/wnl.0000000000003430 article EN Neurology 2016-11-18

Most replicated genetic determinants for type 1 diabetes are common (minor allele frequency [MAF] &amp;gt;5%). We aimed to identify novel rare or low-frequency (MAF &amp;lt;5%) single nucleotide polymorphisms with large effects on risk of diabetes. undertook deep imputation genotyped data followed by genome-wide association testing and meta-analysis 9,358 case 15,705 control subjects from 12 European cohorts. Candidate variants were in a separate cohort 4,329 9,543 subjects. Our identified...

10.2337/db19-0831 article EN Diabetes 2020-01-31

Background Vitamin D deficiency has been associated with type 1 diabetes in observational studies, but evidence from randomized controlled trials (RCTs) is lacking. The aim of this study was to test whether genetically decreased vitamin levels are causally using Mendelian randomization (MR). Methods and findings For our two-sample MR study, we selected as instruments single nucleotide polymorphisms (SNPs) that strongly 25-hydroxyvitamin (25OHD) a large genome-wide association (GWAS) on...

10.1371/journal.pmed.1003536 article EN cc-by PLoS Medicine 2021-02-25

Background: Obesity is associated with increased risk of multiple sclerosis (MS); however, the underlying mechanisms remain unclear. Objective: To determine extent to which decreased vitamin D bioavailability and altered levels adiponectin leptin mediate association between obesity MS. Methods: We performed Mendelian randomization (MR) analyses estimate effects on MS body mass index (BMI), 25-hydroxyvitamin (25OHD), adiponectin, in a cohort 14,802 cases 26,703 controls. then estimated...

10.1177/1352458521995484 article EN Multiple Sclerosis Journal 2021-02-19

OBJECTIVE To identify circulating proteins influencing type 1 diabetes susceptibility using Mendelian randomization (MR). RESEARCH DESIGN AND METHODS We used a large-scale two-sample MR study, cis genetic determinants (protein quantitative trait loci [pQTL]) of up to 1,611 from five large genome-wide association studies, screen for causal associations these with risk in 9,684 case subjects and 15,743 control subjects. Further, pleiotropy-robust methods were sensitivity analyses both...

10.2337/dc21-1049 article EN Diabetes Care 2021-11-10

Abstract Age at menarche (AAM) and age natural menopause (ANM) are highly heritable traits have been linked to various health outcomes. We aimed identify circulating proteins associated with altered ANM AAM using an unbiased two-sample Mendelian randomization (MR) colocalization approach. By testing causal effects of 1,271 on AAM, we identified 22 causally in MR, among which 13 (GCKR, FOXO3, SEMA3G, PATE4, AZGP1, NEGR1, LHB, DLK1, ANXA2, YWHAB, DNAJB12, RMDN1 HPGDS) colocalized. Among 1,349...

10.1038/s42003-023-05737-7 article EN cc-by Communications Biology 2024-01-06

Circulating proteins may be promising biomarkers or drug targets. Leveraging genome-wide association studies of type 1 diabetes (18,942 cases and 501,638 controls European ancestry) circulating protein abundances (10,708 ancestry individuals), Mendelian randomization analyses were conducted to assess the associations between 1,560 candidate risk diabetes, followed by multiple sensitivity colocalization analyses, horizontal pleiotropy examinations, replications. Bulk tissue single-cell gene...

10.2337/db24-0380 article EN Diabetes 2025-01-06

&lt;p dir="ltr"&gt;Circulating proteins may be promising biomarkers or drug targets. Leveraging genome-wide association studies of type 1 diabetes (18,942 cases and 501,638 controls European ancestry) circulating protein abundances (10,708 ancestry individuals), Mendelian randomization analyses were conducted to assess the associations between 1,560 candidate risk diabetes, followed by multiple sensitivity colocalization analyses, horizontal pleiotropy examinations, replications. Bulk tissue...

10.2337/figshare.28127258.v1 preprint EN cc-by-nc-sa 2025-01-06

&lt;p dir="ltr"&gt;Circulating proteins may be promising biomarkers or drug targets. Leveraging genome-wide association studies of type 1 diabetes (18,942 cases and 501,638 controls European ancestry) circulating protein abundances (10,708 ancestry individuals), Mendelian randomization analyses were conducted to assess the associations between 1,560 candidate risk diabetes, followed by multiple sensitivity colocalization analyses, horizontal pleiotropy examinations, replications. Bulk tissue...

10.2337/figshare.28127258 preprint EN cc-by-nc-sa 2025-01-06

&lt;p dir="ltr"&gt;Circulating proteins may be promising biomarkers or drug targets. Leveraging genome-wide association studies of type 1 diabetes (18,942 cases and 501,638 controls European ancestry) circulating protein abundances (10,708 ancestry individuals), Mendelian randomization analyses were conducted to assess the associations between 1,560 candidate risk diabetes, followed by multiple sensitivity colocalization analyses, horizontal pleiotropy examinations, replications. Bulk tissue...

10.2337/figshare.28127258.v2 preprint EN cc-by-nc-sa 2025-01-16

A common nonsense mutation in TBC1D4 was recently found to substantially increase the odds of type 2 diabetes Greenlandic Inuit, leading exclusively increased postprandial glucose. We investigated frequency and effect on glucose metabolism diagnosis among Canadian Alaskan Inuit.Exome sequencing variant performed 114 Inuit from Nunavik, Canada, Sanger undertaken 1,027 Genetics Coronary Artery Disease Natives (GOCADAN) Study. Association testing evaluated diabetes-related metabolic traits...

10.2337/dc16-0769 article EN Diabetes Care 2016-08-25

Abstract Context Adult height is highly heritable, yet no genetic predictor has demonstrated clinical utility compared to mid-parental height. Objective To develop a polygenic risk score for adult and evaluate its utility. Design A was constructed based on meta-analysis of genomewide association studies evaluated the Avon Longitudinal Study Parents Children (ALSPAC) cohort. Subjects Participants included 442 599 genotyped White British individuals in UK Biobank 941 child-parent trios...

10.1210/clinem/dgab215 article EN cc-by The Journal of Clinical Endocrinology & Metabolism 2021-03-31

Type 2 diabetes shows an increasing prevalence in both adults and children. Identification of biomarkers for youth adult-onset type is crucial development screening tools or drug targets. In this study, using two-sample Mendelian randomization (MR), we identified 22 circulating proteins causally linked to adult 11 with suggestive evidence association youth-onset diabetes. Among these, colocalization analysis further supported a role C-type mannose receptor (MR odds ratio [OR] 0.85 [95% CI...

10.2337/db21-1046 article EN Diabetes 2022-03-02

Epidemiological studies have reported an association between amyotrophic lateral sclerosis (ALS) and different autoimmune disorders. This study aims to explore the causal relationship disorders ALS using Mendelian randomization (MR).To test genetically predicted effects of liability towards immune-related outcomes on risk, we used summary statistics from largest European genome-wide (GWAS) for these in a two-sample MR setting. To do this, extracted single nucleotide polymorphisms (SNPs)...

10.1186/s12916-022-02578-9 article EN cc-by BMC Medicine 2022-11-02

Observational studies have linked vitamin D insufficiency to pediatric type 2 diabetes (T2D), but evidence from supplementation trials is sparse. Given the rising prevalence of T2D in all ethnicities, determining protective role has significant public health importance. We tested whether serum 25-hydroxyvitamin (25OHD) levels are causally youth-onset risk using Mendelian randomization (MR). selected 54 single-nucleotide polymorphisms (SNPs) associated with 25OHD a European genome-wide...

10.3390/nu15041016 article EN Nutrients 2023-02-17
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