Expressive

rs115884658 - EHMT2

Magnitude 4.5 · 2 studies on file

Reported associations

  • Genetic factors underlying the bidirectional relationship between autoimmune and mental disorders - Findings from a Danish population-based study. - Brain, behavior, and immunity (2021) · Liu X, Nudel R, Thompson WK, Appadurai V, Schork AJ, Buil A, Rasmussen S, Allesøe RL, Werge T, Mors O, Børglum AD, Hougaard DM, Mortensen PB, Nordentoft M, Benros ME · PubMed 32534018

    Previous studies have indicated the bidirectionality between autoimmune and mental disorders. However, genetic studies underpinning the co-occurrence of the two disorders have been lacking. In this study, we examined the potential genetic contribution to the association between autoimmune and mental disorders and investigated the genetic basis of overall autoimmune disease. We used diagnostic information from patients with seven autoimmune diseases and six mental disorders from the Danish population-based case-cohort sample (iPSYCH2012). We explored the epidemiological association using survival analysis and modelled the effect of polygenic risk scores (PRSs) on autoimmune and mental diseases. Genetic factors were investigated using GWAS and imputed HLA alleles in the iPSYCH cohort. Of 64,

  • Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes - Unknown journal (n.d.) · Unknown authors · PubMed 29358691

    ABSTRACT: The reanalysis of existing GWAS data represents a powerful and cost-effective opportunity to gain insights into the genetics of complex diseases. By reanalyzing publicly available type 2 diabetes (T2D) genome-wide association studies (GWAS) data for 70,127 subjects, we identify seven novel associated regions, five driven by common variants (LYPLAL1, NEUROG3, CAMKK2, ABO, and GIP genes), one by a low-frequency (EHMT2), and one driven by a rare variant in chromosome Xq23, rs146662075, associated with a twofold increased risk for T2D in males. rs146662075 is located within an active enhancer associated with the expression of Angiotensin II Receptor type 2 gene (AGTR2), a modulator of insulin sensitivity, and exhibits allelic specific activity in muscle cells. Beyond providing insi

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