Figure 1.
ESR1 SNPs, mapping, and association with restrictive AN. (a) Association between restrictive AN and SNPs (filled symbol) or haplotypes (open symbol) for combined parental (triangle), maternal (circle), and paternal (square) transmissions. The strongest association is observed for the eight-SNPs haplotype (p=6.10−6). (b) Genomic organization of ESR1 gene (bars correspond to exons and arrowhead indicates the orientation of transcription) and position of the 13 encompassing SNPs (interrupted bars) at scale. (c) Pairwise linkage disequilibrium of SNPs. Haplotype blocks 1 and 2 are indicated. The haplotype of eight-SNPs is boxed.