Genome Wide Association Identifies Common Variants at the SERPINA6/SERPINA1 Locus Influencing Plasma Cortisol and Corticosteroid Binding Globulin
- Bolton, J.
- Hayward, C.
- Direk, N.
- Lewis, J.
- Hammond, G.
- Hill, L.
- Anderson, A.
- Huffman, J.
- Wilson, J.
- Campbell, H.
- Rudan, I.
- Wright, A.
- Hastie, N.
- Wild, S.
- Velders, F.
- Hofman, A.
- Uitterlinden, A.
- Lahti, J.
- Räikkönen, K.
- Kajantie, E.
- Widen, E.
- Palotie, A.
- Eriksson, J.
- Kaakinen, M.
- Järvelin, M.
- Timpson, N.
- Davey Smith, G.
- Ring, S.
- Evans, D.
- St Pourcain, B.
- Tanaka, T.
- Milaneschi, Y.
- Bandinelli, S.
- Ferrucci, L.
- van der Harst, P.
- Rosmalen, J.
- Bakker, S.
- Verweij, N.
- Dullaart, R.
- Mahajan, A.
- Lindgren, C.
- Morris, A.
- Lind, L.
- Ingelsson, E.
- Anderson, L.
- Pennell, C.
- Lye, S.
- Matthews, S.
- Eriksson, J.
- Mellstrom, D.
- Ohlsson, C.
- Price, J.
- Strachan, M.
- Reynolds, R.
- Tiemeier, H.
- Walker, B.
- CORtisol NETwork (CORNET) Consortium,
DOIAbstract
Variation in plasma levels of cortisol, an essential hormone in the stress response, is associated in population-based studies with cardio-metabolic, inflammatory and neuro-cognitive traits and diseases. Heritability of plasma cortisol is estimated at 30-60% but no common genetic contribution has been identified. The CORtisol NETwork (CORNET) consortium undertook genome wide association meta-analysis for plasma cortisol in 12,597 Caucasian participants, replicated in 2,795 participants. The results indicate that <1% of variance in plasma cortisol is accounted for by genetic variation in a single region of chromosome 14. This locus spans SERPINA6, encoding corticosteroid binding globulin (CBG, the major cortisol-binding protein in plasma), a...
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