Table 1 |
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|
Genotypes and TDT results of the analysed variants in CNR1. NAAA and MGLL in the AN trios |
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|
Gene |
SNP1,2 |
Alleles3 major/minor |
Location Exchange |
N4 |
Genotypes (%)5 |
Allele frequ.6 |
Transm. rate7 |
p-value8 |
|
|
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|
A/A 26 (42.62) |
A: 0.64 |
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|
A/G 26 (42.62) |
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|
CNR1 |
rs2180619 |
-22,959A/G |
Putative promoter |
61 |
G/G 9 (14.75) |
G: 0.36 |
0.49 (G) |
1.00 |
|
|
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|
A/A 16 (26.23) |
A: 0.55 |
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|
A/T 35 (57.38) |
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|
CNR1 |
rs806379 |
-6,274A/T |
Intron 2 |
61 |
T/T 10 (16.39) |
T: 0.45 |
0.52 (T) |
0.90 |
|
|
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|
T/T 43 (70.49) |
T: 0.84 |
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|
T/G 16 (26.23) |
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|
CNR1 |
rs1535255 |
-6,215T/G |
Intron 2 |
61 |
G/G 2 (3.28) |
G: 0.16 |
0.50 (G) |
1.00 |
|
|
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|
T/T 43 (70.49) |
T: 0.84 |
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|
T/C 16 (26.23) |
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|
CNR1 |
rs2023239 |
-5,489T/C |
Exon 3 Non-coding |
61 |
C/C 2 (3.28) |
C: 0.16 |
0.50 (C) |
1.00 |
|
|
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|
G/G 38 (41.76) |
G: 0.65 |
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|
G/A 43 (47.25) |
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|
CNR1 |
rs1049353 |
1,359G/A |
Exon 4 Thr453Thr |
91 |
A/A 10 (10.99) |
A: 0.35 |
0.59 (A) |
0.11 |
|
|
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|
G/G 33 (54.10) |
G: 0.75 |
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|
G/A 26 (42.62) |
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|
FAAH |
rs932816 |
-272G/A |
Putative promoter |
61 |
A/A 2 (3.28) |
A: 0.25 |
0.39 (A) |
0.13 |
|
|
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|
C/C 40 (66.67) |
C: 0.80 |
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|
C/A 16 (26.67) |
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|
FAAH |
rs324420 |
10,741C/A |
Exon 3 Thr129Pro |
60 |
A/A 4 (6.67) |
A: 0.20 |
0.56 (A) |
0.61 |
|
|
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|
G/G 49 (80.33) |
G: 0.89 |
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|
G/A 11 (18.03) |
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|
FAAH |
rs324419 |
11,966G/A |
Exon 7 Cys299Cys |
61 |
A/A 1 (1.64) |
A: 0.11 |
0.59 (A) |
0.52 |
|
|
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|
G/G 60 (98.36) |
G: 0.99 |
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|
G/A 1 (1.64) |
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|
FAAH |
rs873978 |
13,883G/A |
Intron 7 |
61 |
A/A 0 (0.00) |
A: 0.01 |
1.00 (A) |
1.00 |
|
|
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|
C/C 34 (56.67) |
C: 0.73 |
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|
C/A 20 (33.33) |
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|
FAAH |
rs2295632 |
19,542C/A |
3'UTR |
60 |
A/A 6 (10.0) |
A: 0.27 |
0.42 (A) |
0.42 |
|
|
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|
G/G 34 (56.67) |
G: 0.75 |
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|
G/A 22 (36.67) |
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|
NAAA |
rs2292534 |
368A/G |
Intron 1 |
60 |
A/A 4 (6.67) |
A: 0.25 |
0.57 (A) |
0.42 |
|
|
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|
A/A 38 (62.30) |
A: 0.78 |
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|
A/T 19 (31.15) |
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|
NAAA |
rs4859567 |
9,263A/T |
Intron 3 |
61 |
T/T 4 (6.56) |
T: 0.22 |
0.43 (T) |
0.42 |
|
|
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|
G/G 36 (60.00) |
G: 0.78 |
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|
G/T 21 (35.00) |
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|
NAAA |
rs10518142 |
19,229G/T |
Intron 5 |
60 |
T/T 3 (5.00) |
T: 0.22 |
0.63 (T) |
0.13 |
|
|
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|
C/C 22 (36.07) |
C: 0.61 |
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|
C/T 31 (50.82) |
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|
NAAA |
rs6819442 |
22,995C/T |
Intron 9 |
61 |
T/T 8 (13.11) |
T: 0.39 |
0.56 (T) |
0.42 |
|
|
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|
T/T 36 (59.02) |
T: 0.75 |
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|
T/A 19 (31.15) |
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|
MGLL |
rs893294 |
121,143T/A |
Intron 8 |
61 |
A/A 6 (9.84) |
A: 0.25 |
0.54 (A) |
0.75 |
|
|
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|
1 All SNPs were tested for Hardy-Weinberg equilibrium (exact p ≥ 0.05); 2 The TGC haplotype comprises the minor alleles of rs806379, rs1535255, and rs2023239; 3 Numbers are given according to genomic entry AL136096.7 and the translation start codon (nt+1 is the A of ATG); SNP alleles correspond to dbSNP http://www.ncbi.nlm.nih.gov/SNP/ webcite; 4 Number of anorexia nervosa trios genotyped; 5 Genotype frequencies in the patients with AN; 6 Allele frequencies in the patients with AN; 7 Transmission rate of the minor alleles; 8 for TDT |
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|
Müller et al. Child and Adolescent Psychiatry and Mental Health 2008 2:33 doi:10.1186/1753-2000-2-33 |
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