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Markus Perola
National Institute for Health and Welfare
Genome-wide association studyPopulationGeneticsMedicineBiology
676Publications
99H-index
51.6kCitations
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Publications 606
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#1Yisong Huang (Georgia Regents University)H-Index: 4
#1Yisong Huang (Georgia Regents University)
Last. Yan V. Sun (Emory University)
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We conducted an epigenome-wide association study meta-analysis on blood pressure (BP) in 4820 individuals of European and African ancestry aged 14 to 69. Genome-wide DNA methylation data from perip...
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#1Anke R. Hammerschlag (PHRI: Public Health Research Institute)
#2Enda M. Byrne (UQ: University of Queensland)H-Index: 35
Last. Wibowo ArindrartoH-Index: 9
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Abstract Background Recent genome-wide association studies (GWAS) identified the first genetic loci associated with attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). The next step is to use these results to increase our understanding of the biological mechanisms involved. Most of the identified variants likely influence gene regulation. The aim of the current study is to shed light on the mechanisms underlying the genetic signals and prioritize genes by integrat...
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#1Yosuke Tanigawa (Stanford University)H-Index: 6
#2Michael Wainberg (Stanford University)H-Index: 10
Last. Markus PerolaH-Index: 99
view all 14 authors...
Protein-altering variants that are protective against human disease provide in vivo validation of therapeutic targets. Here we use genotyping data from UK Biobank (n = 337,151 unrelated White British individuals) and FinnGen (n = 176,899) to conduct a search for protein-altering variants conferring lower intraocular pressure (IOP) and protection against glaucoma. Through rare protein-altering variant association analysis, we find a missense variant in ANGPTL7 in UK Biobank (rs28991009, p.Gln175H...
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#1Fredrik Åberg (UH: University of Helsinki)H-Index: 11
#2Pauli Puukka (UH: University of Helsinki)H-Index: 12
Last. Martti Färkkilä (UH: University of Helsinki)H-Index: 63
view all 9 authors...
: Alcoholic liver disease (ALD) and nonalcoholic fatty liver disease (NAFLD) are the major causes for nonviral liver cirrhosis in the population. Whereas the typical NAFLD patient is one with abdominal obesity, metabolic syndrome (MetS), and no or minimal alcohol use, the patient with pure alcoholic liver cirrhosis has, according to cohort studies, typically consumed >5-10 daily alcohol drinks for several years.1 However, both alcohol use and components of the MetS are continuous variables and, ...
1 CitationsSource
#1Johannes KettunenH-Index: 42
#2Michael V. HolmesH-Index: 35
Last. Mika KähönenH-Index: 88
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#1Chen Li (University of Cambridge)H-Index: 1
#2Svetlana Stoma (University of Leicester)H-Index: 1
Last. Alexessander Da Silva Couto Alves (University of Surrey)H-Index: 1
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Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including up to 78,592 individuals. We identify 49 genomic regions at a false dicovery rate (FDR) 350,000 UK Biobank participants suggest that genetically shorter telomere length increases the risk of hypothyroidism and decreases the risk of thyroid cancer, l...
1 CitationsSource
#1Emmi TikkanenH-Index: 30
#2Linda MustelinH-Index: 11
Last. Peter WuertzH-Index: 32
view all 9 authors...
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#1Fredrik Åberg (UH: University of Helsinki)H-Index: 11
#1Fredrik Aberg (UH: University of Helsinki)H-Index: 6
Last. Antti Jula (National Institute for Health and Welfare)H-Index: 67
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BACKGROUND AND AIMS: The effects of alcohol use in nonalcoholic fatty liver disease are unclear. We investigated the impact of alcohol use in fatty liver disease on incident liver, cardiovascular, and malignant disease, as well as death. APPROACH AND RESULTS: Our study comprised 8,345 persons with hepatic steatosis (fatty liver index >60) who participated in health-examination surveys (FINRISK 1992-2012 or Health 2000), with available data on baseline alcohol intake. Main exclusions were baselin...
5 CitationsSource
#1Minna K. Karjalainen (University of Oulu)H-Index: 11
#2Michael V. HolmesH-Index: 35
Last. Markus Perola (National Institute for Health and Welfare)H-Index: 99
view all 15 authors...
Abstract Background and aims Apolipoprotein A-I (apoA-I) infusions represent a potential novel therapeutic approach for the prevention of coronary artery disease (CAD). Although circulating apoA-I concentrations inversely associate with risk of CAD, the evidence base of this representing a causal relationship is lacking. The aim was to assess the causal role of apoA-I using human genetics. Methods We identified a variant (rs12225230) in APOA1 locus that associated with circulating apoA-I concent...
1 CitationsSource
#1Lucija Klarić (Edin.: University of Edinburgh)H-Index: 9
#2Yakov A. Tsepilov (NSU: Novosibirsk State University)H-Index: 6
Last. Stuart McGurnaghan (Edin.: University of Edinburgh)H-Index: 8
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Effector functions of immunoglobulin G (IgG) are regulated by the composition of a glycan moiety, thus affecting activity of the immune system. Aberrant glycosylation of IgG has been observed in many diseases, but little is understood about the underlying mechanisms. We performed a genome-wide association study of IgG N-glycosylation (N = 8090) and, using a data-driven network approach, suggested how associated loci form a functional network. We confirmed in vitro that knockdown of IKZF1 decreas...
2 CitationsSource
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