Expressive

rs11864909 - PDILT

Magnitude 2.2 · 4 studies on file

Reported associations

  • A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes. - Diabetes (2018) · van Zuydam NR, Ahlqvist E, Sandholm N, Deshmukh H, Rayner NW, Abdalla M, Ladenvall C, Ziemek D, Fauman E, Robertson NR, McKeigue PM, Valo E, Forsblom C, Harjutsalo V, Perna A, Rurali E, Marcovecchio ML, Igo RP, Salem RM, Perico N, Lajer M, Käräjämäki A, Imamura M, Kubo M, Takahashi A, Sim X, Liu J, van Dam RM, Jiang G, Tam CHT, Luk AOY, Lee HM, Lim CKP, Szeto CC, So WY, Chan JCN, Ang SF, Dorajoo R, Wang L, Clara TSH, McKnight AJ, Duffy S, Pezzolesi MG, Marre M, Gyorgy B, Hadjadj S, Hiraki LT, Ahluwalia TS, Almgren P, Schulz CA, Orho-Melander M, Linneberg A, Christensen C, Witte DR, Grarup N, Brandslund I, Melander O, Paterson AD, Tregouet D, Maxwell AP, Lim SC, Ma RCW, Tai ES, Maeda S, Lyssenko V, Tuomi T, Krolewski AS, Rich SS, Hirschhorn JN, Florez JC, Dunger D, Pedersen O, Hansen T, Rossing P, Remuzzi G, Brosnan MJ, Palmer CNA, Groop PH, Colhoun HM, Groop LC, McCarthy MI · PubMed 29703844

    Identification of sequence variants robustly associated with predisposition to diabetic kidney disease (DKD) has the potential to provide insights into the pathophysiological mechanisms responsible. We conducted a genome-wide association study (GWAS) of DKD in type 2 diabetes (T2D) using eight complementary dichotomous and quantitative DKD phenotypes: the principal dichotomous analysis involved 5,717 T2D subjects, 3,345 with DKD. Promising association signals were evaluated in up to 26,827 subjects with T2D (12,710 with DKD). A combined T1D+T2D GWAS was performed using complementary data available for subjects with T1D, which, with replication samples, involved up to 40,340 subjects with diabetes (18,582 with DKD). Analysis of specific DKD phenotypes identified a novel signal near (rs99424

  • Use of genetic variation to separate the effects of early and later life adiposity on disease risk: mendelian randomisation study - Unknown journal (n.d.) · Unknown authors · PubMed 32376654

    ABSTRACT: Abstract Objective To evaluate whether body size in early life has an independent effect on risk of disease in later life or whether its influence is mediated by body size in adulthood. Design Two sample univariable and multivariable mendelian randomisation. Setting The UK Biobank prospective cohort study and four large scale genome-wide association studies (GWAS) consortiums. Participants 453 169 participants enrolled in UK Biobank and a combined total of more than 700 000 people from different GWAS consortiums. Exposures Measured body mass index during adulthood (mean age 56.5) and self-reported perceived body size at age 10. Main outcome measures Coronary artery disease, type 2 diabetes, breast cancer, and prostate cancer. Results Having a larger genetically predicted body

  • Plasma proteome variation and its genetic determinants in children and adolescents - Unknown journal (n.d.) · Unknown authors · PubMed 39972214

    ABSTRACT: Our current understanding of the determinants of plasma proteome variation during pediatric development remains incomplete. Here, we show that genetic variants, age, sex and body mass index significantly influence this variation. Using a streamlined and highly quantitative mass spectrometry-based proteomics workflow, we analyzed plasma from 2,147 children and adolescents, identifying 1,216 proteins after quality control. Notably, the levels of 70% of these were associated with at least one of the aforementioned factors, with protein levels also being predictive. Quantitative trait loci (QTLs) regulated at least one-third of the proteins; between a few percent and up to 30-fold. Together with excellent replication in an additional 1,000 children and 558 adults, this reveals substa

  • Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations - Unknown journal (n.d.) · Unknown authors · PubMed 22797727

    ABSTRACT: Chronic kidney disease (CKD), impairment of kidney function, is a serious public health problem, and the assessment of genetic factors influencing kidney function has substantial clinical relevance. Here, we report a meta-analysis of genome-wide association studies for kidney function-related traits, including 71,149 east Asian individuals from 18 studies in 11 population-, hospital- or family-based cohorts, conducted as part of the Asian Genetic Epidemiology Network (AGEN). Our meta-analysis identified 17 loci newly associated with kidney function-related traits, including the concentrations of blood urea nitrogen, uric acid and serum creatinine and estimated glomerular filtration rate based on serum creatinine levels (eGFRcrea) (P < 5.0 × 10−8). We further examined these

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