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Fig. 2 | Clinical Epigenetics

Fig. 2

From: The cardiovascular and hypothalamus-pituitary-adrenal axis response to stress is controlled by glucocorticoid receptor sequence variants and promoter methylation

Fig. 2

The genomic organisation, sequence variants and haplotype structure of the glucocorticoid receptor gene (NR3C1). a A schematic representation of the NR3C1 genomic organisation. Rectangles represent transcribed exons. Exons 1A–1I are alternatively spliced to a common acceptor site at the start of exon 2. White exons are non-coding, grey exons represent the coding sequence. The lower section of the panel shows the six haplotypes observed, their constituent variants and frequencies. Minor alleles are represented by bold red letters. b The linkage disequilibrium (LD) structure of the NR3C1. LD between two variants are given by colour, blue/grey no LD; white, limited LD; light red to dark red, medium to strong LD. Numbers within the LD diamonds represent the value of D prime (D’) between the two loci. D’ is statistic normalised parameters of disequilibrium

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