Expressive

rs12218858 - EEF1AKMT2

Magnitude 4.5 · 3 studies on file

Reported associations

  • Genetic analysis of elevated levels of creatinine and cystatin C biomarkers reveals novel genetic loci associated with kidney function. - Human molecular genetics (2025) · D'Antonio M, Arthur TD, Gonzalez Rivera WG, Wu X, Nguyen JP, Gymrek M, Woo-Yeong P, Frazer KA · PubMed 39927731

    The rising prevalence of chronic kidney disease (CKD), affecting an estimated 37 million adults in the United States, presents a significant global health challenge. CKD is typically assessed using estimated Glomerular Filtration Rate (eGFR), which incorporates serum levels of biomarkers such as creatinine and cystatin C. However, these biomarkers do not directly measure kidney function; their elevation in CKD results from diminished glomerular filtration. Genome-wide association studies (GWAS) based on eGFR formulas using creatinine (eGFRcre) or cystatin C (eGFRcys) have identified distinct non-overlapping loci, raising questions about whether these loci govern kidney function or biomarker metabolism. In this study, we show that GWAS on creatinine and cystatin C levels in healthy individu

  • Body surface area is a potential obesity index: Its genetic determination and its causality for later-life diseases. - Obesity (Silver Spring, Md.) (2022) · Yu XH, Cao RR, Yang YQ, Deng FY, Bo L, Lei SF · PubMed 36502284

    This study aimed to identify novel genetic factors that contribute to body surface area (BSA) and explore its relationship with complex traits and diseases. Based on more than 330,000 European individuals in the UK Biobank, the first large-scale genome-wide association study for BSA was performed. Comprehensive genetic analysis and enrichment analysis were then performed to explore the biological function of the identified loci. The genetic correlations and causal associations between BSA and other anthropometry parameters, early growth indices, and later-life diseases, respectively, were assessed by complex genetic approaches. Genome-wide association study analysis identified a total of 456 conditionally independent single-nucleotide polymorphism mapping genes with known functions in the

  • Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. - Molecular psychiatry (2021) · van der Meer D, Rokicki J, Kaufmann T, Córdova-Palomera A, Moberget T, Alnæs D, Bettella F, Frei O, Doan NT, Sønderby IE, Smeland OB, Agartz I, Bertolino A, Bralten J, Brandt CL, Buitelaar JK, Djurovic S, van Donkelaar M, Dørum ES, Espeseth T, Faraone SV, Fernández G, Fisher SE, Franke B, Haatveit B, Hartman CA, Hoekstra PJ, Håberg AK, Jönsson EG, Kolskår KK, Le Hellard S, Lund MJ, Lundervold AJ, Lundervold A, Melle I, Monereo Sánchez J, Norbom LC, Nordvik JE, Nyberg L, Oosterlaan J, Papalino M, Papassotiropoulos A, Pergola G, de Quervain DJF, Richard G, Sanders AM, Selvaggi P, Shumskaya E, Steen VM, Tønnesen S, Ulrichsen KM, Zwiers MP, Andreassen OA, Westlye LT · PubMed 30279459

    The hippocampus is a heterogeneous structure, comprising histologically distinguishable subfields. These subfields are differentially involved in memory consolidation, spatial navigation and pattern separation, complex functions often impaired in individuals with brain disorders characterized by reduced hippocampal volume, including Alzheimer's disease (AD) and schizophrenia. Given the structural and functional heterogeneity of the hippocampal formation, we sought to characterize the subfields' genetic architecture. T1-weighted brain scans (n = 21,297, 16 cohorts) were processed with the hippocampal subfields algorithm in FreeSurfer v6.0. We ran a genome-wide association analysis on each subfield, co-varying for whole hippocampal volume. We further calculated the single-nucleotide poly

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