Sanni Lahdenperä
A5079438855- Diabetes, Cardiovascular Risks, and Lipoproteins
- Lipoproteins and Cardiovascular Health
- Lipid metabolism and disorders
- Genetic Associations and Epidemiology
- Antioxidant Activity and Oxidative Stress
- Pancreatic function and diabetes
- Cancer, Lipids, and Metabolism
- Metabolism, Diabetes, and Cancer
- Diabetes Treatment and Management
- Bioinformatics and Genomic Networks
- Estrogen and related hormone effects
- Diabetes and associated disorders
- Sleep and related disorders
- BRCA gene mutations in cancer
- Menopause: Health Impacts and Treatments
- Lipid metabolism and biosynthesis
- Multiple Sclerosis Research Studies
- Chronic Disease Management Strategies
- Genetic factors in colorectal cancer
- Endoplasmic Reticulum Stress and Disease
- Sleep and Wakefulness Research
- Atherosclerosis and Cardiovascular Diseases
- Cardiovascular Health and Disease Prevention
- Paraoxonase enzyme and polymorphisms
- Glaucoma and retinal disorders
Biogen (United States)
2019-2025
University of Helsinki
1992-2024
Institute for Molecular Medicine Finland
1995-2024
Sanofi (Finland)
2006-2007
Helsinki University Hospital
1996-2002
Public Health Institute
1995-1996
North Karelia Central Hospital
1996
Central Finland Health Care District
1996
Abstract Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses 141 species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10 −8 ), 10 which associate risk including five new loci- COL5A1 , GLTPD2 SPTLC3 MBOAT7 GALNT16 (false...
Abstract Polygenic risk scores (PRS) for breast cancer have potential to improve prediction, but there is limited information on their utility in various clinical situations. Here we show that among 122,978 women the FinnGen study with 8401 cases, PRS modifies of two high-impact frameshift variants. Similarly, after diagnosis, individuals elevated an developing contralateral cancer, and can considerably assessment female first-degree relatives. In more detail, c.1592delT variant PALB2...
Narcolepsy type 1 (NT1) is caused by a loss of hypocretin/orexin transmission. Risk factors include pandemic 2009 H1N1 influenza A infection and immunization with Pandemrix®. Here, we dissect disease mechanisms interactions environmental triggers in multi-ethnic sample 6,073 cases 84,856 controls. We fine-mapped GWAS signals within HLA (DQ0602, DQB1*03:01 DPB1*04:02) discovered seven novel associations (CD207, NAB1, IKZF4-ERBB3, CTSC, DENND1B, SIRPG, PRF1). Significant at TRA DQB1*06:02 loci...
OBJECTIVE: To search for determinants of endothelial dysfunction in type 2 diabetes. RESEARCH DESIGN AND METHODS: We performed a comprehensive analysis cardiovascular risk markers and measured blood flow responses to endothelium-dependent (acetylcholine [ACh] NG-monomethyl-L-arginine) -independent (sodium nitroprusside [SNP]) vasoactive agents 30 nonsmoking men with diabetes (age 51 +/- 1 years, BMI 27.8 0.4 kg/m2, HbA1c 7.4 0.3%) 12 matched normal control men. RESULTS: ACh-induced...
Insulin is often postponed for years because initiation time-consuming. We sought to compare of insulin individually and in groups with respect change A1C several other parameters type 2 diabetic patients.A randomized (1:1), multicenter, two-arm, parallel design study a recruiting period up 14 weeks 24-week treatment period. Either 4-8 or individually, using the same personnel education program, 121 insulin-naive patients an 7.0-12.0% were initiate bedtime glargine. The visited center before...
High density lipoprotein (HDL) subfractions (2b, 2a, 3a, 3b, and 3c) separated by gradient gel electrophoresis (GGE) defined Gaussian summation analysis, the compositions of HDL2 HDL,, preparative ultracentrifugation, were studied in four groups men with or without non-insulin-dependent diabetes mellitus (NIDDM) coronary artery disease (CAD): group 1 (DM+CAD+, n = 50); 2 (DM-CAD+, 3 (DM+CAD-, 4 (DM-CAD-, 31).HDL GGE subfraction distributions, available 125 subjects, not significantly...
Physical activity increases the production of oxygen free radicals, which may consume antioxidants and oxidize low-density lipoprotein (LDL). To determine whether this occurs during strenuous aerobic exercise, we studied 11 well-trained runners who participated in Helsinki City Marathon. Blood samples were collected before, immediately after, 4 days after race to its effect on circulating LDL oxidizability vitro. was increased as determined from a reduction lag time for formation conjugated...
Abstract Large-scale biobank initiatives and commercial repositories store genomic data collected from millions of individuals, tools to leverage the rapidly growing pool health in disease prevention are needed. Here, we describe derivation validation genomics-enhanced risk for two common cardiometabolic diseases, coronary heart type 2 diabetes. Data used our analyses include FinnGen study (N = 309,154) UK Biobank project 343,672). The integrate contemporary genome-wide polygenic scores with...
Background —It is unknown whether LDL particle size is, independent of other lipids and lipoproteins, associated with endothelial dysfunction in vivo. Methods Results —We determined vivo function 34 healthy men by measuring forearm blood flow responses to intrabrachial artery infusions acetylcholine (ACh, an endothelium-dependent vasodilator) sodium nitroprusside (an endothelium-independent vasodilator). peak was measured gradient gel electrophoresis. Men small particles (LDL diameter ≤25.5...
Uterine leiomyomata (UL) are the most common tumours of female genital tract and primary cause surgical removal uterus. Genetic factors contribute to UL susceptibility. To add understanding heritable genetic risk factors, we conduct a genome-wide association study (GWAS) in up 426,558 European women from FinnGen previous meta-GWAS. In addition 50 known loci, identify 22 loci that have not been associated with prior studies. UL-associated harbour genes enriched for development, growth,...
OBJECTIVE To study the effects of gemfibrozil treatment on LDL particle size, density distribution, and composition in NIDDM patients. RESEARCH DESIGN AND METHODS We performed analyses 16 patients with stable glycemic control. They were randomly allocated to receive either (n = 8) or a placebo for 3 mo double-blind study. The size distribution diameter major peak measured nondenaturing polyacrylamide gradient gel electrophoresis. determined ultracentrifugation method. RESULTS In group mean...
Narcolepsy is a severe sleep disorder with characteristics of fatigue, fragmented sleep, cataplexy and hypnagogic hallucinations. Earlier clinical studies have reported the onset schizophrenia after narcolepsy but causality behind unknown. Our goal was to understand between schizophrenia. To estimate comorbidity schizophrenia, we employed data from FinRegistry that contains for total population Finland in 7.2 million individuals (N = 1664 55,372 schizophrenia). We then used Mendelian...
To study the responses of serum lipoproteins, apoproteins (apo's), and lipoprotein(a) (Lp[a]) to two frequently used hormone replacement therapies (HRTs), 120 postmenopausal women were randomly allocated receive either transdermal therapy consisting 28-day cycles with patches that delivered 17β-estradiol (50 μg/d) combined cyclic oral medroxyprogesterone acetate (10 mg/d for 12 days per cycle) or continuous (2 mg/d) together norethisterone (1 months. Blood samples taken before at 6 months...
Objectives To explore adherence, persistence, and treatment patterns in patients with multiple sclerosis (MS) Finland treated disease-modifying therapies (DMTs) for active MS 2005-2018. Materials Methods The study cohort was identified using the Drug Prescription Register of Social Insurance Institute, Finland. All had at least one prescription glatiramer acetate (GA), beta-interferons, teriflunomide, or delayed-release dimethyl fumarate (DMF). Adherence calculated proportion days covered...
Abstract Dupuytren's disease is characterized by fingers becoming permanently bent in a flexed position. Whereas people of African ancestry are rarely afflicted disease, up to ∼30% men over 60 years suffer from this condition northern Europe. Here, we meta-analyze 3 biobanks comprising 7,871 cases and 645,880 controls find 61 genome-wide significant variants associated with disease. We show that the loci harbor alleles Neandertal origin, including second third most strongly ones (P = 6.4 ×...
Abstract. We studied 11 female alcoholics before and after ethanol withdrawal of 2 weeks 10 healthy normolipidaemic, nonalcoholic women similar age. In alcoholic the HDL mass was increased by 63% ( P<0.01 ) on admission normalized P <0.01) during abstention. The concentrations 3 cholesterol its remained unchanged throughout study. Consistently with fall gradient gel electrophoresis analyses also demonstrated decrease concentration 2b 2a (P<0.05) alcohol withdrawal. On apo A‐II 48%...
We have characterized the molecular basis for familial hepatic lipase (HL) deficiency in a Finnish family. In propositus, HL results from compound heterozygosity two rare gene mutations, previously unknown missense mutation designated L334F and reported T383M mutation. These mutations were introduced into human cDNA by site-directed mutagenesis constructs expressed COS-1 cells. homogenate of cell transfected with mutant cDNA, high amount inactive protein accumulated. media cells, 30% wild...
A Finnish kindred with premature coronary heart disease and decreased HDL cholesterol levels was identified as having an apoA-I variant, (Lys107-->0), caused by a 3-bp deletion of nucleotides 1396 through 1398 in exon 4 the gene. These subjects (n = 10) were heterozygous for this mutation. The mean serum concentration (26.7 +/- 9.7 mg/dL) affected family members 36%, lower than that unaffected (P < .05). Mean apoA-II concentrations heterozygotes reduced 18% 22%, respectively, compared normal...