Table 1.
Newly associated genome-wide significant loci for anorexia nervosa
| Locus | Chr | Basepair region | Lead SNP | BP | P | A1/A2 | OR | s.e. | Freq | Type | Number of genes |
Nearest gene | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| range left | range right | ||||||||||||
| 1 | 3 | 47588253 | 51368253 | rs9821797 | 48718253 | 6.99E-15 | A/T | 1.17 | 0.02 | 0.12 | multigenic | 111 | NCKIPSD |
| 2 | 11 | 114997256 | 115424956 | rs6589488 | 115096956 | 6.31E-11 | A/T | 1.14 | 0.02 | 0.13 | single-gene | 1 | CADM1 |
| 3 | 2 | 53881813 | 54362813 | rs2287348 | 54039813 | 5.62E-09 | T/C | 1.11 | 0.02 | 0.16 | multigenic | 13 | ASB3, ERLEC1 |
| 4 | 10 | 131269764 | 131463964 | rs2008387 | 131448764 | 1.73E-08 | A/G | 1.08 | 0.01 | 0.33 | single-gene | 2 | MGMT |
| 5 | 3 | 70670750 | 71074150 | rs9874207 | 71019750 | 2.05E-08 | C/T | 1.08 | 0.01 | 0.49 | single-gene | 2 | FOXP1 |
| 6 | 1 | 96699455 | 97284455 | rs10747478 | 96901455 | 3.13E-08 | T/G | 1.08 | 0.01 | 0.41 | single-gene | 2 | PTBP2 |
| 7 | 5 | 24945845 | 25372845 | rs370838138 | 25081845 | 3.17E-08 | G/C | 1.08 | 0.01 | 0.56 | intergenic | 0 | CDH10 |
| 8 | 3 | 93968107 | 95059107 | rs13100344 | 94605107 | 4.21E-08 | T/A | 1.08 | 0.01 | 0.54 | intergenic | 2 | NSUN3 |
Note. Shown are the results of the GWAS meta-analysis of anorexia nervosa (16,992 cases and 55,552 controls) which detected eight genome-wide significant loci. All of the eight loci are novel. Chr (chromosome) and Region (hg19) are shown for SNPs with P < 1e-05 and linkage-disequilibrium (LD) r2 > 0.1 with the most associated "lead" SNP, the location of which is given in BP (basepair). A1/A2 refers to Allele 1/Allele 2 and OR and s.e. are the odds ratio and standard error for the association between A1 and the phenotype. Freq is the frequency of A1 in controls. Number of genes was determined by genomic location, adult brain eQTL, regulatory chromatin interactions, and MAGMA gene-wise analysis (see Methods). Nearest gene is the nearest gene within the region of LD "friends" of the lead variant (LD-r2 > 0.6 +/− 500 Kb). The meta-analysis was restricted to variants with minor allele frequency (MAF) ≥ 0.01 and information quality (INFO) score ≥ 0.70. All loci were confirmed via forest plots based on consistent direction of effect in the majority of cohorts and via region plots whereby neighboring LD "friends" were required to show a similar effect. Chromosome X was analyzed but had no loci that reached genome-wide significance. Note that although lead variants are annotated to the nearest gene, this does not mean that the gene listed is a causal gene.