rs10970976 - ACO1

Magnitude 2.8 · 1 study on file

Reported associations

  • Genome-wide association study to identify genetic determinants of severe asthma. - Thorax (2012) · Wan YI, Shrine NR, Soler Artigas M, Wain LV, Blakey JD, Moffatt MF, Bush A, Chung KF, Cookson WO, Strachan DP, Heaney L, Al-Momani BA, Mansur AH, Manney S, Thomson NC, Chaudhuri R, Brightling CE, Bafadhel M, Singapuri A, Niven R, Simpson A, Holloway JW, Howarth PH, Hui J, Musk AW, James AL, Brown MA, Baltic S, Ferreira MA, Thompson PJ, Tobin MD, Sayers I, Hall IP · PubMed 22561531

    The genetic basis for developing asthma has been extensively studied. However, association studies to date have mostly focused on mild to moderate disease and genetic risk factors for severe asthma remain unclear. To identify common genetic variants affecting susceptibility to severe asthma. A genome-wide association study was undertaken in 933 European ancestry individuals with severe asthma based on Global Initiative for Asthma (GINA) criteria 3 or above and 3346 clean controls. After standard quality control measures, the association of 480 889 genotyped single nucleotide polymorphisms (SNPs) was tested. To improve the resolution of the association signals identified, non-genotyped SNPs were imputed in these regions using a dense reference panel of SNP genotypes from the 1000 Genomes


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