Important Variant Information for AHR
Submitted by: Ryan Owen (PharmGKB)
Reviewed by: Under Review
Submitted date: January 10th, 2008
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There is One Important Variant for AHR.
| Gene HGNC Name: | AHR |
|---|---|
| Variant Summary: | Kawajiri et al first identified the R554K variant of AHR, which occurs at a high frequency in the Japanese population; the authors did not observe any association between the R554K variant and the incidence of lung cancer [7550366]. Smart and Daly [10739168] later observed a difference between reference AHR and AHR-R455K in their ability to induce the transcription of CYP1A1 when treated with the AHR substrate 3-methylcholanthrene (MC). One year later, Wong et al [11207035] did not observe the same result when they used 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) as the substrate to active AHR. Wong et al also determined the allele frequency of AHR-R455K in several different populations (see allele frequency table below). Since those initial reports, most association studies have been negative. AHR-R554K was not found to be associated with Alzheimer's Disease [12852830], bladder cancer [11866883], or interindividual differences in the expression of CYP1A1 [11505220]. A recent functional study found no difference between reference sequence AHR and AHR-R455K in either AHR mRNA or protein expression, although some lower frequency (and far less studied) variants were identified as having reduced AHR protein expression [15860653]. |
| Key PubMed IDs: | 7550366 10739168 11207035 15860653 |
| Genomic Variant & GenBank ID: | G17265602A on AC_000139 |
| mRNA Variant & GenBank ID: | G1661A on NM_001621 |
| Protein Variant & GenBank ID: | R554K on NP_001612 |
| dbSNP rs#: | rs2066853 |
| GoldenPath Position: | chr7:17345635 on hg18 |
| Key Drugs/Substrates: | TCDD and MC |
| Key Phenotypes/Diseases: | N/A |
| Key PharmGKB pathways: | N/A |
| Population | Allele Frequency of 554K | Reference |
|---|---|---|
| Japanese | 0.43 | 7550366 |
| Ivory Coast African |
0.57 | 11207035 |
| African | 0.53 | 11207035 |
| Caribbean African |
0.39 | 11207035 |
| Canadian Chinese |
0.32 | 11207035 |
| Native Indian |
0.14 | 11207035 |
| French Canadian |
0.12 | 11207035 |
| North American (mixed ethnicities) |
0.11 | 11207035 |
| Canadian Inuit |
0.09 | 11207035 |
| German | 0.07 | 11207035 |