rs10783854 - CTDSP2 - ATP23

Magnitude 2.2 · 2 studies on file

Reported associations

• Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways. - Nature genetics (2022) · Watanabe K, Jansen PR, Savage JE, Nandakumar P, Wang X, Hinds DA, Gelernter J, Levey DF, Polimanti R, Stein MB, Van Someren EJW, Smit AB, Posthuma D · PubMed 35835914

  Insomnia is a heritable, highly prevalent sleep disorder for which no sufficient treatment currently exists. Previous genome-wide association studies with up to 1.3 million subjects identified over 200 associated loci. This extreme polygenicity suggested that many more loci remain to be discovered. The current study almost doubled the sample size to 593,724 cases and 1,771,286 controls, thereby increasing statistical power, and identified 554 risk loci (including 364 novel loci). To capitalize on this large number of loci, we propose a novel strategy to prioritize genes using external biological resources and functional interactions between genes across risk loci. Of all 3,898 genes naively implicated from the risk loci, we prioritize 289 and find brain-tissue expression spec

• GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures - Unknown journal (n.d.) · Unknown authors · PubMed 31053729

  ABSTRACT: Bone area is one measure of bone size that is easily derived from dual-energy X-ray absorptiometry (DXA) scans. In a GWA study of DXA bone area of the hip and lumbar spine (N ≥ 28,954), we find thirteen independent association signals at twelve loci that replicate in samples of European and East Asian descent (N = 13,608 - 21,277). Eight DXA area loci associate with osteoarthritis, including rs143384 in GDF5 and a missense variant in COL11A1 (rs3753841). The strongest DXA area association is with rs11614913[T] in the microRNA MIR196A2 gene that associates with lumbar spine area (P = 2.3 × 10−42, β = −0.090) and confers risk of hip fracture (P = 1.0 × 10−8, OR = 1.11). We demonstrate that the risk allele is less efficient in repressing

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