Important Haplotype Information for ABCB1
Submitted by: Leslie Chinn, Jason Gow (PMT)
Reviewed by: Reviewed
Submitted date: August 11, 2006
There is One Important Haplotype for ABCB1.
- ABCB1*13
| Gene HGNC Name: | ABCB1 |
|---|---|
| Haplotype Significance: | *13 occurs at a frequency of 32% in Caucasians, 5% in African Americans, 27% in Asians, 35% in Mexican Americans, and 33.3% in Pacific Islanders [PMID: 12893986]. The coding SNPs 1236, 2677, and 3435 are often studied together without consideration of the intronic SNPs (referred to as "*13 coding"); in some cases only the 2677 and 3435 genotypes are considered. The *1 haplotype CCC (1236, 2677, 3435) contains the reference alleles for these SNPs. The *13 coding haplotype is equivalent to the *2 haplotype TTT (1236, 2677, 3435) and contains the minor alleles for these SNPs. Neither the *1 nor *2 haplotypes consider the genotypes of the intronic SNPs included in the *13 haplotype. |
| Does this haplotype span more than one gene? | No |
| Definitive Publication or Website: | 1236 C>T, 2677 G>T, 3435 C>T named *1 (CGC) or *2 (TTT) [PMID: 11503014, Kim et al. 2001]; 1236, 2677, 3435 (TTT) and 3 intronic SNPs (intron 9, intron 13, intron 14) named *13 [PMID: 12893986, Kroetz et al. 2003]. |
| Phenotype Data Sets: | Positive findings: 2677T/3435T haplotype protects against Parkinson disease in a Chinese population [PMID: 15767512]. *13 coding haplotype is associated with Crohn's disease and ulcerative colitis [PMID: 15505619]. 2677G/3435T significantly increased (2677T/3435C decreased) extent of and susceptibility to ulcerative colitis in Scottish patients [PMID: 15685540]. 2677A/3435C subjects had significantly lower plasma fexofenadine concentrations after a single oral dose [PMID: 15536457]. Negative findings: No association between *13 coding haplotype and drug resistance in Korean epileptic patients [PMID: 16386926]. No association between 2677/3435 haplotype and indinavir PK or PD [PMID: 16284462]. 2677/3435 haplotype not associated with cyclosporine PK in renal transplant patients [PMID: 14517192]. No effect of 2677/3435 on ritonavir trough or response in HIV + patients [PMID: 14600574]. *1 and *13 did not differ in response to loperamide [PMID: 14586389]. |
| Key PubMed IDs: | 12893986, 11503014,15767512,15505619, 15685540, 15536457, 16386926, 16284462,14517192, 14600574, 14586389 |
| How many SNPs, indels, repeats define this haplotype? | Defining SNPs: ABCB1:1236C>T(rs1128503) , ABCB1:2677G>A/T (rs2032582) , ABCB1:3435C>T (rs1045642) Intronic SNPs (locations correspond to positions in AC005068): ABCB1:84821C>T (rs10276036), ABCB1:83766A>G (rs2235033), ABCB1:83249C>T (rs2235013). |