ISSN 1662-4009 (online)

Previous issue | Volume 20 | ESPEYB20

Yearbook of Paediatric Endocrinology 2023

8. Type 1 Diabetes

New Genetic Approaches

ey0020.8-17 | New Genetic Approaches | ESPEYB20

8.17. Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the [ldquo]omnigenic[rdquo] sparse effector hypothesis of complex trait genetics

A Iakovliev , SJ McGurnaghan , C Hayward , M Colombo , D Lipschutz , A Spiliopoulou , HM Colhoun , PM McKeigue

Brief summary: Using data on 4964 type 1 diabetes (T1D) cases and 7497 controls, this study assessed whether the effect of common genetic variants (SNPs) on risk of T1D is mediated through trans-effects on the expression of core genes. Nine putative core genes were identified, all implicated in immune system regulation. In addition, four T1D-associated genomic regions were identified as master regulators that have trans-effects on gene expression.<p class="abstext...