rs1135640 - ACOX1

Magnitude 2.0 · 1 study on file

Reported associations

• Exome chip analysis identifies low-frequency and rare variants in MRPL38 for white matter hyperintensities on brain MRI - Unknown journal (n.d.) · Unknown authors · PubMed 30002152

  ABSTRACT: Background and Purpose White matter hyperintensities (WMH) on brain magnetic resonance imaging are typical signs of cerebral small vessel disease and may indicate various pre-clinical, age-related neurological disorders such as stroke. Though WMH are highly heritable, known common variants explain a small proportion of the WMH variance. The contribution of low-frequency/rare coding variants to WMH burden has not been explored. Methods In the discovery sample we recruited 20,719 stroke/dementia-free adults from 13 population-based cohort studies within the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium, among which 17,790 were of European ancestry (EA) and 2,929 of African ancestry (AA). We genotyped these participants at ~250,000 mostly exonic variants wi

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