ABCMdb

ABCB1 p.Glu1144Lys

Predicted by SNAP2:	A: N (61%), C: D (59%), D: N (82%), F: D (71%), G: D (71%), H: D (71%), I: D (71%), K: D (75%), L: D (66%), M: D (66%), N: D (71%), P: D (85%), Q: N (57%), R: D (66%), S: D (71%), T: D (71%), V: D (66%), W: D (75%), Y: D (71%),
Predicted by PROVEAN:	A: D, C: D, D: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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Publications
[hide] Polymorphisms in multidrug resistance 1 (MDR1) gen... Genes Immun. 2004 Nov;5(7):530-9. Potocnik U, Ferkolj I, Glavac D, Dean M
Polymorphisms in multidrug resistance 1 (MDR1) gene are associated with refractory Crohn disease and ulcerative colitis.
Genes Immun. 2004 Nov;5(7):530-9., [PMID:15505619]

Abstract [show]
We used coding and noncoding polymorphisms evenly spaced across the ABCB1/MDR1 gene to perform association analysis in Slovenian patients with inflammatory bowel diseases and to obtain haplotype structure and patterns of linkage disequilibrium (LD) in the MDR1 gene. A disease association study was performed in 307 IBD patients, including 144 patients with ulcerative colitis (UC) and 163 patients with Crohn's disease (CD), and 355 healthy controls. Here we report an association between MDR1 alleles, polymorphisms and haplotypes and refractory CD patients, who do not respond to standard therapy, including patients who develop fistulas. We also report an association with UC and MDR1 polymorphisms in a Slovenian population. Haplotypes significantly associated with diseases were defined by single-nucleotide polymorphisms (SNPs) in exons 12 (1236 C>A), 21(A893S), and 26 (3435 C>T). In addition, two intronic SNPs in LD with the disease haplotype, one in intron 13 (rs2235035) and another in intron 16 (rs1922242), were significantly associated with refractory Crohn (P=0.026, odds ratio (OR) 2.7 and P=0.025, OR 2.8, respectively), as well as with UC (P=0.006, OR 1.8 and P=0.026, OR 1.9, respectively). Our results suggest that MDR1 is a potential target for therapy in refractory CD patients and in patients with UC.

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No. Sentence Comment
19 We have identified a nonsynonymous substitution in exon 28 (E1144K), in a patient with UC. Login to comment