Table 2. Association analyses of GABRR1 and GABRR2 and their flanking regions.
| Gene | SNP number |
SNP_ID | Chromosome position1 |
SNP location2 | MAF3 | Minor nucleotide4 |
DSM- IV5 |
Early onset5 |
COGA5 |
|---|---|---|---|---|---|---|---|---|---|
| PNRC1 | 1 | rs1130809 | 89,850,613 | exon 2, Thr321 | 0.18 | C | 0.70 | 0.18* | 0.77 |
| 2 | rs11961455 | 89,852,007 | downstream | 0.42 | C | 0.66 | 0.23* | 0.39 | |
| SRrp35 | 3 | rs6938490 | 89,862,949 | 3′UTR | 0.29 | A | 0.90 | 0.47 | 0.33 |
| 4 | rs423516 | 89,884,774 | promoter | 0.29 | T | 0.57 | 0.15 | 0.72 | |
| PM20D2 | 5 | rs4707518 | 89,907,725 | upstream | 0.29 | C | 0.69 | 0.22 | 0.98 |
| 6 | rs1929635 | 89,923,709 | intron 4 | 0.28 | G | 0.49 | 0.13 | 0.73 | |
| GABRR1 | 7 | rs1331100 | 89,935,180 | downstream | 0.29 | G | 0.72 | 0.18 | 0.81 |
| 8 | rs416115 | 89,941,956 | downstream | 0.30 | C | 0.17 | 0.014* | 0.08* | |
| 9 | rs3734201 | 89,945,162 | 3′UTR | 0.42 | C | 0.58 | 0.04 | 0.55 | |
| 10 | rs1796743 | 89,945,463 | exon 10, Ala389 | 0.35 | T | 0.40 | 0.12* | 0.27 | |
| 11 | rs407221 | 89,947,094 | intron 8 | 0.27 | C | 0.21 | 0.23 | 0.37 | |
| 12 | rs368873 | 89,949,881 | intron 7 | 0.29 | G | 0.43 | 0.03* | 0.14* | |
| 13 | rs407206 | 89,951,687 | intron 7 | 0.32 | A | 0.13 | 0.12 | 0.15 | |
| 14 | rs423463 | 89,955,427 | intron 6 | 0.19 | A | 0.68 | 0.41* | 0.97 | |
| 15 | rs453503 | 89,957,318 | intron 5 | 0.19 | T | 0.64 | 0.38* | 0.66 | |
| 16 | rs452667 | 89,960,039 | intron 5 | 0.19 | T | 0.62 | 1.00 | 0.45 | |
| 17 | rs439912 | 89,963,734 | intron 5 | 0.45 | C | 0.13 | 0.56 | 0.32 | |
| 18 | rs422751 | 89,964,592 | exon 5, Asp140 | 0.16 | G | 0.97 | 0.86 | 0.8 | |
| 19 | rs11967322 | 89,966,483 | intron 3 | 0.43 | T | 0.19 | 0.45 | 0.58 | |
| 20 | rs7741132 | 89,969,614 | intron 2 | 0.33 | A | 0.14 | 0.06 | 0.13 | |
| 21 | rs7758893 | 89,973,360 | intron 1 | 0.19 | C | 0.79 | 0.51* | 0.76 | |
| 22 | rs881293 | 89,974,522 | intron 1 | 0.32 | C | 0.63 | 0.29* | 0.71 | |
| 23 | rs1029057 | 89,979,273 | intron 1 | 0.28 | T | 1.00 | 0.87 | 0.44 | |
| 24 | rs6902106 | 89,982,459 | intron 1 | 0.28 | C | 0.34 | 0.14* | 0.09* | |
| 25 | rs17504587 | 89,982,921 | intron 1 | 0.19 | T | 0.04 | 0.03 | 0.01 | |
| 26 | rs1186902 | 89,983,681 | exon 1, Arg21His | 0.28 | C | 0.81 | 0.97 | 0.36 | |
| 27 | rs12200969 | 89,983,685 | exon 1, Val20Met | 0.34 | C | 0.20 | 0.09* | 0.11* | |
| 28 | rs1186903 | 89,984,290 | promoter | 0.35 | A | 0.11* | 0.048* | 0.10* | |
| 29 | rs914479 | 89,986,927 | upstream | 0.35 | C | 0.08* | 0.028* | 0.04* | |
| 30 | rs914478 | 89,987,638 | upstream | 0.34 | C | 0.12* | 0.06* | 0.07* | |
| 31 | rs9342188 | 90,002,245 | intergenic | 0.09 | C | 0.83 | 0.27* | 0.59 | |
| 32 | rs1321355 | 90,007,632 | intergenic | 0.27 | G | 0.10* | 0.10* | 0.08* | |
| 33 | rs282135 | 90,008,949 | intergenic | 0.28 | G | 0.74 | 0.93 | 0.24 | |
| 34 | rs6914006 | 90,014,480 | intergenic | 0.44 | A | 0.46 | 0.47 | 0.73 | |
| GABRR2 | 35 | rs3734198 | 90,021,011 | downstream | 0.43 | G | 0.62 | 0.84 | 0.92 |
| 36 | rs282129 | 90,024,217 | exon 9, Met430Thr | 0.28 | A | 0.03* | 0.08* | 0.02* | |
| 37 | rs13211104 | 90,027,125 | intron 8 | 0.30 | A | 0.03* | 0.07* | 0.03* | |
| 38 | rs9451191 | 90,029,831 | intron 8 | 0.26 | A | 0.021 | 0.002 | 0.17 | |
| 39 | rs723041 | 90,030,782 | intron 8 | 0.13 | T | 0.79 | 0.86 | 0.83 | |
| 40 | rs9294426 | 90,031,297 | intron 7 | 0.29 | A | 0.55 | 0.38 | 1.00 | |
| 41 | rs12206367 | 90,031,345 | intron 7 | 0.12 | A | 0.43 | 0.38 | 0.84 | |
| 42 | rs2273507 | 90,031,964 | intron 7 | 0.20 | G | 0.70 | 0.55 | 0.52 | |
| 43 | rs2273508 | 90,034,567 | intron 4 | 0.11 | T | 0.97 | 0.63 | 0.46 | |
| 44 | rs282121 | 90,036,802 | intron 3 | 0.41 | T | 0.025 | 0.02 | 0.05 | |
| 45 | rs282117 | 90,038,132 | exon 3, Val83 | 0.42 | T | 0.07 | 0.017 | 0.12 | |
| 46 | rs282115 | 90,038,431 | intron 2 | 0.07 | A | 0.78 | 0.20* | 0.96 | |
| 47 | rs9451194 | 90,042,098 | intron 2 | 0.45 | A | 0.91 | 0.53 | 0.65 | |
| 48 | rs9362632 | 90,051,417 | intron 2 | 0.29 | G | 0.87 | 0.88 | 0.36 | |
| 49 | rs3798256 | 90,053,124 | intron 2 | 0.45 | G | 0.22 | 0.06 | 0.36 | |
| 50 | rs964626 | 90,056,015 | intron 2 | 0.21 | C | 0.13* | 0.16* | 0.13* | |
| 51 | rs9451196 | 90,057,273 | intron 2 | 0.12 | T | 0.07* | 0.21* | 0.30* | |
| 52 | rs6454750 | 90,057,490 | intron 2 | 0.45 | T | 1.00 | 0.65 | 0.80 | |
| 53 | rs2148174 | 90,062,644 | intron 2 | 0.33 | T | 0.41 | 0.78 | 0.85 | |
| 54 | rs7742664 | 90,065,463 | intron 2 | 0.22 | T | 0.20* | 0.03* | 0.25* | |
| 55 | rs2325202 | 90,068,229 | intron 1 | 0.36 | G | 0.22 | 0.04* | 0.16 | |
| 56 | rs1570028 | 90,069,154 | intron 1 | 0.49 | A | 0.34 | 0.07* | 0.08 | |
| 57 | rs6942204 | 90,072,687 | intron 1 | 0.27 | C | 0.04 | 0.005 | 0.016 | |
| 58 | rs6454752 | 90,075,080 | intron 1 | 0.23 | T | 0.43 | 0.21* | 0.07* | |
| 59 | rs9294432 | 90,076,686 | intron 1 | 0.47 | T | 0.51 | 0.14* | 0.04* | |
| 60 | rs10944441 | 90,078,260 | intron 1 | 0.18 | A | 0.08* | 0.012* | 0.005* | |
| 61 | rs7764923 | 90,079,640 | intron 1 | 0.24 | T | 0.08* | 0.02* | 0.007* | |
| 62 | rs2236204 | 90,081,831 | promoter | 0.19 | T | 0.09* | 0.015* | 0.006* | |
| 63 | rs9362636 | 90,083,516 | promoter | 0.06 | G | 0.86 | 0.88 | 0.91 | |
| 64 | rs2064831 | 90,089,661 | upstream | 0.18 | C | 0.09* | 0.01* | 0.009* | |
| UBE2J1 | 65 | rs13215418 | 90,093,230 | downstream | 0.17 | T | 0.56 | 0.93 | 0.73 |
| 66 | rs10502 | 90,096,389 | exon 8, Val229Leu | 0.40 | C | 0.34 | 0.11* | 0.07* | |
| 67 | rs12189673 | 90,103,123 | intron 5 | 0.30 | C | 0.62 | 0.25 | 0.05 | |
| 68 | rs7760851 | 90,109,323 | intron 2 | 0.50 | G | 0.40 | 0.48 | 0.009 | |
| 69 | rs7743444 | 90,112,800 | intron 1 | 0.24 | T | 0.88 | 0.97 | 0.52 | |
Chromosome positions are based on NCBI Human Genome Assembly v36.3.
PNRC1 and PM20D2 are transcribed in forward direction; SRrp35, GABRR1, GABRR2 and UBE2J1 are transcribed in the opposite direction.
Minor Allele Frequency in this sample of European Americans.
Nucleotides are shown on the human genome strand.
P-value of UNPHASED PDTsum statistic for association between the SNP and alcohol dependence. P ≤ 0.05 is in bold.
Minor allele is preferentially transmitted to affected individuals.