Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels.
Journal of Medical Genetics 53(7):441 (2016)
So far, more than 170 loci have been associated with circulating lipid levels through genome-wide association studies (GWAS). These associations are largely driven by common variants, their function is often not known, and many are likely to be markers for the causal variants. In this study we a...
The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily.
European Journal of Human Genetics 24(3):429 (2016)
Greek colonisation of South Italy and Sicily (Magna Graecia) was a defining event in European cultural history, although the demographic processes and genetic impacts involved have not been systematically investigated. Here, we combine high-resolution surveys of the variability at the uni-parent...
A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.
Human Molecular Genetics 25(2):358 (2016)
Genome-wide association studies have previously identified 23 genetic loci associated with circulating fibrinogen concentration. These studies used HapMap imputation and did not examine the X-chromosome. 1000 Genomes imputation provides better coverage of uncommon variants, and includes indels. ...
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
Nature Communications 7:10023 (2016)
Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replica...
The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape
Current Biology 25(21):2878 (2015)
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.
Nature Genetics 47(11):1294 (2015)
Menopause timing has a substantial impact on infertility and risk of disease, including breast cancer, but the underlying mechanisms are poorly understood. We report a dual strategy in ∼70,000 women to identify common and low-frequency protein-coding variation associated with age at natural meno...
The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape.
Current Biology 25(19):2518 (2015)
Over the past few years, studies of DNA isolated from human fossils and archaeological remains have generated considerable novel insight into the history of our species. Several landmark papers have described the genomes of ancient humans across West Eurasia, demonstrating the presence of large-...
Molecular Characterization of Glucose-6-phosphate Dehydrogenase Deficiency in Families from the Republic of Macedonia and Genotype-phenotype Correlation.
Medicinski arhiv 69(5):284 (2015)
Glucose-6-phospahte dehydrogenase deficiency (G6PD) is one of the most common inherited disorders affecting around 400 million people worldwide. Molecular analysis of the G6PD gene identified more than 140 distinct mutations, the majority being single base missense mutations. G6PD Mediterranean ...
Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.
Nature Communications 6:8658 (2015)
Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (phase 1)-imputed g...
Ancient human genomes suggest three ancestral populations for present-day Europeans.
Nature 513(7518):409 (2014)
We sequenced the genomes of a ∼7,000-year-old farmer from Germany and eight ∼8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differenti...
Correlation of serial MRI findings and clinical outcome in the first Croatian patient with acute necrotizing encephalopathy.
Croatian Medical Journal 55(4):431 (2014)
Genome-wide association analysis identifies six new loci associated with forced vital capacity.
Nature Genetics 46(7):669 (2014)
Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in 32,917 a...
The OSR1 rs12329305 polymorphism contributes to the development of congenital malformations in cases of stillborn/neonatal death.
Medical Science Monitor 20:1531 (2014)
Involvement of development-related gene polymorphisms in multifactorial/polygenic etiology of stillborn/neonatal deaths due to malformations has been insufficiently tested. Since these genes showed evolutional stability and their mutations are very rare, we can assume that their polymorphic vari...
Common variants in Mendelian kidney disease genes and their association with renal function.
Journal of the American Society of Nephrology 24(12):2105 (2013)
Many common genetic variants identified by genome-wide association studies for complex traits map to genes previously linked to rare inherited Mendelian disorders. A systematic analysis of common single-nucleotide polymorphisms (SNPs) in genes responsible for Mendelian diseases with kidney pheno...
Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
Circulation 128(12):1310 (2013)
Estimates of the heritability of plasma fibrinogen concentration, an established predictor of cardiovascular disease, range from 34% to 50%. Genetic variants so far identified by genome-wide association studies explain only a small proportion (<2%) of its variation.
We conducted a meta-analysis ...
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
Nature Genetics 45(2):145 (2013)
Elevated serum urate concentrations can cause gout, a prevalent and painful inflammatory arthritis. By combining data from >140,000 individuals of European ancestry within the Global Urate Genetics Consortium (GUGC), we identified and replicated 28 genome-wide significant loci in association wit...
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
PLoS Genetics 9(9):e1003796 (2013)
Calcium is vital to the normal functioning of multiple organ systems and its serum concentration is tightly regulated. Apart from CASR, the genes associated with serum calcium are largely unknown. We conducted a genome-wide association meta-analysis of 39,400 individuals from 17 population-based...
Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function.
Human Molecular Genetics 21(24):5329 (2012)
In conducting genome-wide association studies (GWAS), analytical approaches leveraging biological information may further understanding of the pathophysiology of clinical traits. To discover novel associations with estimated glomerular filtration rate (eGFR), a measure of kidney function, we dev...
FTO genotype is associated with phenotypic variability of body mass index.
Nature 490(7419):267 (2012)
There is evidence across several species for genetic control of phenotypic variation of complex traits, such that the variance among phenotypes is genotype dependent. Understanding genetic control of variability is important in evolutionary biology, agricultural selection programmes and human me...
Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
The American Journal of Human Genetics 91(4):744 (2012)
Many disorders are associated with altered serum protein concentrations, including malnutrition, cancer, and cardiovascular, kidney, and inflammatory diseases. Although these protein concentrations are highly heritable, relatively little is known about their underlying genetic determinants. Thro...