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Articles by Priit Palta
Meta-analysis of smartphone applications targeting eating behaviour for weight loss
Abstract Smartphone applications (“apps”) could be safe, cost-effective, and accessible tools for weight loss. Numerous weight-loss apps are available, but their longer-term efficacy is unclear. We conducted a meta-analysis of randomised controlled trials of weight loss apps that target eating behaviour in adults.
Genome-wide meta-analysis identifies genetic drivers of bile acid metabolism in intrahepatic cholestasis of pregnancy
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Abstract Intrahepatic cholestasis of pregnancy, which affects 0.2–2% of pregnancies, is characterized by pruritus, increased aminotransferase activity and elevated serum bile acids. Previous studies have implicated liver-enriched genes in intrahepatic cholestasis of pregnancy.
By Jaakko S. Tyrmi, Juha Karjalainen, Samvida Venkatesh, Clara Benoit-Pilven, Susanna Lemmelä, Søren Brunak, Bitten Aagaard, Mie T Bruun, Christian Erikstrup, Henrik Ullum, Ole B. Pedersen, Karina Banasik, Erik S. Sørensen, Christina Mikkelsen, Michael C Schwinn, Arni Sturluson, Sisse R. Ostrowski, Johannes Kettunen, Henriette Svarre Nielsen, Mette Nyegaard, David Westergaard, Thorunn Rafnar, Patrick Sulem, Kari Stefansson, Priit Palta, Triin Laisk, Taru Tukiainen, Cecilia M Lindgren, Mark Daly, Aki S Havulinna, Hannele Laivuori
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Nature
Verified
Genetic variants affect diurnal glucose levels throughout the day
Abstract Circadian rhythms not only coordinate the timing of wake and sleep but also regulate homeostasis within the body, including glucose metabolism. The genetic variants that contribute to the temporal control of glucose levels have not been previously examined.
Genetic analysis of circulating metabolic traits in 619,372 individuals
Abstract Interpreting the association of genetic variants with complex traits can be improved by gaining a greater understanding of the molecular consequences of these variants. Although genome-wide association studies (GWAS) for complex diseases routinely profile over one million individuals1,2,3,4,5, studies of molecular traits have lagged behind. Here we performed a GWAS meta-analysis for 249 circulating metabolic traits in the Estonian Biobank and the UK Biobank in up to 619,372 individuals.
Genetic architecture of lumbar spinal stenosis
Abstract Lumbar spinal stenosis (LSS) affects over 100 million people globally, with an increasing incidence due to an ageing population. While LSS is known to be heritable, its genetic basis remains poorly understood. We conduct a genome-wide meta-analysis of LSS in 40,303 cases and 741,469 controls. We identify 73 previously unreported loci in addition to 15 known loci, and highlight spinal degeneration as a key pathogenic mechanism.
Genome-wide association study of pulpal and apical diseases - Nature Communications
Abstract Infections of the dental pulp are common sequelae of microbial activity and host susceptibility, affecting >80% of adult population. We performed a genome-wide association study on endodontic infections utilizing Finnish health registry and genotype data from FinnGen. Cases [132,124 (27.2%)] had at least one ICD10-diagnosis code of pulpal or apical diseases, whereas 353,106 individuals without diagnoses served as controls.
The Estonian Biobank’s journey from biobanking to personalized medicine - Nature Communications
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Abstract Large biobanks have set a new standard for research and innovation in human genomics and implementation of personalized medicine. The Estonian Biobank was founded a quarter of a century ago, and its biological specimens, clinical, health, omics, and lifestyle data have been included in over 800 publications to date.
By Lili Milani, Sulev Reisberg, Erik Abner, Krista Fischer, Robin Hofmeister, Mart Kals, Anastassia Kolde, Kristi Krebs, Jaanika Kronberg, Kadri Koiv, Mait Metspalu, Elin Org, Priit Palta, Vasili Pankratov, Anu Reigo, Ene Reimann, Nele Taba, Maris Teder-Laving, Urmo Võsa, Burak Yelmen, Reedik Mägi, Jaak Vilo, Triin Laisk, Kreete Lüll, Miriam Nurm, Steven Smit, Dage Särg, Harry-Anton Talvik
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Nature
Verified
Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses - Nature Medicine
Abstract The genetic background of many female reproductive health diagnoses remains uncharacterized, compromising our understanding of the underlying biology. Here, we map the genetic architecture across 42 female-specific health conditions using data from up to 293,618 women from two large population-based cohorts, the Estonian Biobank and the FinnGen study. Our study illustrates the utility of genetic analyses in understanding women’s health better.
Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations - Nature Communications
Abstract Given that lumbar disc herniation (LDH) is a prevalent spinal condition that causes significant individual suffering and societal costs, the genetic basis of LDH has received relatively little research. Our aim is to increase understanding of the genetic factors influencing LDH. We perform a genome-wide association analysis (GWAS) of LDH in the FinnGen project and in Estonian and UK biobanks, followed by a genome-wide meta-analysis to combine the results.
High incidence and geographic distribution of cleft palate in Finland are associated with the IRF6 gene - Nature Communications
Abstract In Finland, the frequency of isolated cleft palate (CP) is higher than that of isolated cleft lip with or without cleft palate (CL/P). This trend contrasts to that in other European countries but its genetic underpinnings are unknown.
Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure - Nature Communications
Cohort descriptions We identified individuals with ICD-based otosclerosis diagnoses from three national biobank-based cohorts: The Finnish FinnGen cohort, the Estonian Biobank (EstBB) and the UK Biobank (UKBB). Written informed consent was obtained from all study participants at recruitment. The FinnGen data used here comprise 250,844 individuals from FinnGen Data Freeze 6 (https://www.finngen.fi/en)66.
Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis - Communications Biology
Abstract Cardiovascular diseases are the leading cause of premature death and disability worldwide, with both genetic and environmental determinants. While genome-wide association studies have identified multiple genetic loci associated with cardiovascular diseases, exact genes driving these associations remain mostly uncovered.
The role of polygenic risk and susceptibility genes in breast cancer over the course of life
Abstract Polygenic risk scores (PRS) for breast cancer have potential to improve risk prediction, but there is limited information on their utility in various clinical situations. Here we show that among 122,978 women in the FinnGen study with 8401 breast cancer cases, the PRS modifies the breast cancer risk of two high-impact frameshift risk variants.
Genetic architecture of human plasma lipidome and its link to cardiovascular disease
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 of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals).
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