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Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease.
Crawford AA, Bankier S, Altmaier E, Barnes CLK, Clark DW, Ermel R, Friedrich N, van der Harst P, Joshi PK, Karhunen V, Lahti J, Mahajan A, Mangino M, Nethander M, Neumann A, Pietzner M, Sukhavasi K, Wang CA, Bakker SJL, Bjorkegren JLM, Campbell H, Eriksson J, Gieger C, Hayward C, Jarvelin MR, McLachlan S, Morris AP, Ohlsson C, Pennell CE, Price J, Rudan I, Ruusalepp A, Spector T, Tiemeier H, Völzke H, Wilson JF, Michoel T, Timpson NJ, Smith GD, Walker BR; CORtisol NETwork (CORNET) consortium. Crawford AA, et al. J Hum Genet. 2021 Jun;66(6):625-636. doi: 10.1038/s10038-020-00895-6. Epub 2021 Jan 20. J Hum Genet. 2021. PMID: 33469137 Free PMC article.
Genome wide association identifies common variants at the SERPINA6/SERPINA1 locus influencing plasma cortisol and corticosteroid binding globulin.
Bolton JL, Hayward C, Direk N, Lewis JG, Hammond GL, Hill LA, Anderson A, Huffman J, Wilson JF, Campbell H, Rudan I, Wright A, Hastie N, Wild SH, Velders FP, Hofman A, Uitterlinden AG, Lahti J, Räikkönen K, Kajantie E, Widen E, Palotie A, Eriksson JG, Kaakinen M, Järvelin MR, Timpson NJ, Davey Smith G, Ring SM, Evans DM, St Pourcain B, Tanaka T, Milaneschi Y, Bandinelli S, Ferrucci L, van der Harst P, Rosmalen JG, Bakker SJ, Verweij N, Dullaart RP, Mahajan A, Lindgren CM, Morris A, Lind L, Ingelsson E, Anderson LN, Pennell CE, Lye SJ, Matthews SG, Eriksson J, Mellstrom D, Ohlsson C, Price JF, Strachan MW, Reynolds RM, Tiemeier H, Walker BR; CORtisol NETwork (CORNET) Consortium. Bolton JL, et al. PLoS Genet. 2014 Jul 10;10(7):e1004474. doi: 10.1371/journal.pgen.1004474. eCollection 2014 Jul. PLoS Genet. 2014. PMID: 25010111 Free PMC article.