Eleni Zengini

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Fasting glucose and insulin are intermediate traits for type 2 diabetes. Here we explore the role of coding variation on these traits by analysis of variants on the HumanExome BeadChip in 60,564 non-diabetic individuals and in 16,491 T2D cases and 81,877 controls. We identify a novel association of a low-frequency nonsynonymous SNV in GLP1R (A316T;(More)
Isolated populations are emerging as a powerful study design in the search for low-frequency and rare variant associations with complex phenotypes. Here we genotype 2,296 samples from two isolated Greek populations, the Pomak villages (HELIC-Pomak) in the North of Greece and the Mylopotamos villages (HELIC-MANOLIS) in Crete. We compare their genomic(More)
Konstantinos Hatzikotoulas1*, Andreas Roposch2* for the †DDH Case Control Consortium, Karan M Shah3, Matthew J Clark3, Selina Bratherton3, Vasanti Limbani4, Julia Steinberg1, Eleni Zengini1, Kaltuun Warsame2, Madhushika Ratnayake5, Maria Tselepi5, Jeremy Schwartzentruber1, John Loughlin5, Deborah M Eastwood4, Eleftheria Zeggini1*, J Mark Wilkinson3*(More)
Osteoarthritis (OA) is a common complex disease with high public health burden and no curative therapy. High bone mineral density (BMD) is associated with an increased risk of developing OA, suggesting a shared underlying biology. Here, we performed the first systematic overlap analysis of OA and BMD on a genome wide scale. We used summary statistics from(More)
OBJECTIVE Osteoarthritis (OA) has a strong genetic component but the success of previous genome-wide association studies (GWAS) has been restricted due to insufficient sample sizes and phenotype heterogeneity. Our aim was to examine the effect of clinically relevant endophenotyping according to site of maximal joint space narrowing (maxJSN) and bone(More)
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