Introduction
Twin and family studies
Candidate gene studies
Gene | Variant | Test type | Evidence for association to | Study | |
---|---|---|---|---|---|
AN | BN | ||||
Catechol-O-methyltransferase (COMT) | Val-158-Met | TDT | Yes | ND | Frisch et al. [66] |
Val-158-Met | TDT | Yes | ND | Michaelovsky et al. [68] | |
Val-158-Met | CC | Yes | Yes | Frieling et al. [150] | |
Val-158-Met | CC | Yes | No | Mikolajczyk et al. [69] | |
Val-158-Met | TDT | No | ND | Gabrovsek et al. [70] | |
Dopamine D2 receptor (DRD2) | TaqA1 | CC | Yes | Yes | Nisoli et al. [65] |
−141 Indel | TDT/CC | Yes | ND | Bergen et al. [64] | |
Dopamine D3 receptor (DRD3) | Bal I polymorphism in exon 1 | CC | No | ND | Bruins-Slot et al. [151] |
Dopamine D4 receptor (DRD4) | 13 bp deletion 48 bp deletion | TDT | No | ND | Hinney et al. [60] |
Haplotype exon III VNTR, 120 bp repeat, 521C>T, 809A>G | TDT | Yes | ND | Bachner-Melman et al. [59] | |
Exon III VNTR | CC | Yes | Kaplan et al. [63] | ||
Exon III VNTR | CC | No | Karwautz et al. [61] | ||
Serotonin transporter (SERT, 5-HTT, SCL6A4) | 5-HTTLPR | CC | No | ND | Sundaramurthy et al. [50] |
5-HTTLPR | CC | Yes | ND | Matsushita et al. [49] | |
5-HTTLPR intron 2 VNTR | CC | ND | No | Lauzurica et al. [51] | |
5-HTTLPR | Meta-analysis | Yes | ND | Gorwood et al. [52] | |
5-HTTLPR | TDT | No | ND | Urwin et al. [55] | |
5-HTTLPR | CC | No | ND | Rybakowski et al. [40] | |
5-HTTLPR | CC | No | Yes | Di Bella et al. [152] | |
5-HTTLPR | CC | Yes | ND | Fumeron et al. [153] | |
5-HTTLPR | CC | No | ND | Hinney et al. [48] | |
5-HT
1B/1Dβ
receptor | 821G>C | CC | Yes | ND | Levitan et al. [154] |
Phe-124-Cys | CC | No | ND | Hinney et al. [155] | |
5-HT
2A
receptor | −1438 G/A | CC | Yes | ND | Rybakowski et al. [40] |
−1438 G/A | CC | No | ND | Ando et al. [42] | |
−1438 G/A | CC | No | Yes | Nishiguchi et al. [46] | |
−1438 G/A | TDT | No | ND | Gorwood et al. [45] | |
−1438 G/A | Meta-analysis | Yes | ND | Gorwood et al. [52] | |
−1438 G/A | CC | Yes | No | Nacmias et al. [39] | |
−1438 G/A | CC | Yes | ND | Collier et al. [37] | |
−1438 G/A | CC | No | ND | Hinney et al. [156] | |
−1438 G/A | CC | No | ND | Campbell et al. [44] | |
−1438 G/A | CC | Yes | ND | Sorbi et al. [41] | |
5-HT
2A
receptor | −1438 G/A | CC | Yes | No | Enoch et al. [38] |
−1438 G/A | CC | No | No | Ziegler et al. [47] | |
−1438 G/A | CC | Yes | Yes | Ricca et al. [157] | |
−1438 G/A | CC | No | ND | Kipman et al. [96] | |
Thr-25-Asn 102T>C, 516C>T, His-452-Tyr | CC | No | ND | Hinney et al. [48] | |
Thr-25-Asn 102T>C, His-452-Tyr | CC | No | No | Nacmias et al. [39] | |
5-HTR
3B
receptor | Tyr129Ser | CC | Yes | No | Hammer et al. [158] |
Norepinephrine transporter gene (NET, SLC6A2) | 4-bp ins/del in AAGG4 repeat island | TDT | Yes | ND | Urwin et al. [53] |
Epistasis between 4-bp ins/del in AAGG4 repeat island and 5-HTTLPR | TDT | No | ND | Urwin et al. [55] | |
Leptin
| −1387G>A (promoter) | CC | No | No | Hinney et al. [81] |
Agouti related protein
| 526G>A (silent) in linkage disequilibrium with Ala-67-Thr 605C>T (silent) | CC CC | Yes No | ND | Vink et al. [83] |
Pro-opiomelanocortin (POMC) | Insertion of 9 bp between codon 73 and 74 | CC | No | ND | Hinney et al. [159] |
Brain-derived neurotrophic factor (BDNF) | −270C>T, Val-66-Met | CC | Yes | ND | Ribasés et al. [105] |
−270C>T, Val-66-Met | CC | Yes | Yes | Ribasés et al. [106] | |
−270C>T, Val-66-Met | FBAT | Yes | ND | Ribasés et al. [114] | |
−270C>T, Val-66-Met | CC | No | No | Friedel et al. [108] | |
−270C>T, Val-66-Met | CC | Yes | ND | Rybakowski et al. [109] | |
Val-66-Met | TDT | No | ND | Dardennes et al. [23] | |
−270C>T, Val-66-Met | nd | Yes | Kaplan et al. [84] | ||
Neurotrophic tyrosine kinase receptor type 3 (NTRK3) | rs7180942 | FBAT | Yes | Yes | Mercader et al. [110] |
Cannabinoid receptor gene (CNR1) | rs1049353 rs2180619 rs806379 rs1535255 rs2023239 | TDT/CC | No | ND | Müller et al. [113] |
AAT trinucleotide repeat | ETDT | Yes | ND | Siegfried et al. [43] | |
Fatty acid amide hydrolase (FAAH) | rs932816 rs324420 rs324419 rs873978 rs2295632 | TDT | No | ND | Müller et al. [113] |
N-acylethanolamine-hydrolyzing acid amidase (NAAA) | rs2292534 rs4859567 rs10518142 rs6819442 | TDT | No | ND | Müller et al. [113] |
Monoglyceride lipase (MGLL) | rs893294 | TDT | No | ND | Müller et al. [113] |
Neurotransmitter systems implicated in eating disorders
Serotonergic system
Norepinephrine
Dopaminergic system
Body weight regulation: leptinergic–melanocortinergic system
Melanocortin-4 receptor
Brain-derived neurotrophic factor (BDNF)
Endocannabinoid system
Genes with effect on BMI from genome-wide association studies
Genome-wide linkage studies
Chr | Grice et al. [121] AN sample | Devlin et al. [122] AN sample | Bulik et al. [126] BN sample | Bacanu et al. [125] AN and BN samples | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Position in cM | Mulitipoint NPL (AN sample) | Mulitipoint NPL (subsample with ANR) | Position in cM | LOD score (covariate obsessionality in AN) | Position in cM | MLS (BN sample) | Position in cM | LOD (AN sample) | Position in cM | LOD (BN sample) | |
1 | NR | NR | NR | 202 |
1.06
| NR | NR | 206 |
1.549
| 208 |
0.773
|
2 | 186 |
0.12
|
1.70
| 184 |
1.12
| NR | NR | 134 |
0.73
| NR | NR |
4 | 25 |
1.42
|
1.82
| 22 |
1.10
| NR | NR | NR | NR | NR | NR |
6 | NR | NR | NR | NR | NR | NR | NR | 153 |
1.052
| 179 |
0.944
|
10 | NR | NR | NR | NR | NR | 24 |
2.70
| NR | NR | NR | NR |
10 | NR | NR | NR | NR | NR | 44 |
2.92
| NR | NR | NR | NR |
11 | NR | NR | NR | NR | NR | NR | NR | 136 |
0.406
| 100 |
1.039
|
13 | NR | NR | NR | 29 |
1.18
| NR | NR | 15 |
0.525
| NR | NR |
16 | 22 |
0.78
|
1.70
| NR | NR | NR | NR | NR | 15 |
0.88
|