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The brain grey/white matter volume as well as the volume of cerebrospinal fluid in the cortical sulci between two gyri are extracted in the MR images of the UK Biobank subjects. We studied the genetic influence on these cortical features that are also well known to vary with age.
We found that the heritability of the sulcal opening ranges from 15 to 45% (SE = 4.8%). We identified 4 new loci that contribute to this opening, including one that also affects the sulci grey matter thickness. We identified the most significant variant (rs864736) on this locus as being an expression quantitative trait locus (eQTL) for the KCNK2 gene. This gene regulates the immune-cell into the central nervous system (CNS) and controls the CNS inflammation, which is implicated in cortical atrophy and cognitive decline. These results expand our knowledge of the genetic contribution to cortical shrinking and promote further investigation into these variants and genes in pathological context such as Alzheimer s disease in which brain shrinkage is a key biomarker.