PMID: 19685447

Huebner C, Browning BL, Petermann I, Han DY, Philpott M, Barclay M, Gearry R, McCulloch A, Demmers P, Ferguson LR
Genetic analysis of MDR1 and inflammatory bowel disease reveals protective effect of heterozygous variants for ulcerative colitis.
Inflamm Bowel Dis. 2009 Dec;15(12):1784-93. doi: 10.1002/ibd.21019. Epub 2009 Aug 14., [PubMed]
Sentences
No. Mutations Sentence Comment
53 ABCB1 p.Asn21Asp
X
ABCB1 p.Asn21Asp 19685447:53:248
status: NEW
view ABCB1 p.Asn21Asp details
 Published MDR1 Genotype Studies Study Participants Population Analyzed SNPs Results Brant et al 2003 IBD_NJ¼211 Jewish and non-Jewish American  c.2677G>T/A Association between G2677 allele and IBDHC_NJ¼392  c.3435C>T IBD_J¼114  p.Asn21Asp HC_J¼219 Schwab et al 2003 IBD¼275 German  c.3435C>T Association between T3435 allele and UCUC¼149 CD¼126 No genotype-phenotype association HC¼998 Croucher et al 2003 IBD¼949 German  c.3435C>T No genotype association CD¼629 UC¼320 HC¼531 IBD¼251 British CD¼164 UC¼87 HC¼164 Glas et al 2004 IBD¼258 German  c.3435C>T Association between T3435 allele and UC when using control group 2CD¼135 UC¼123 No genotype association when using control group 1 or pooled controlsHC1¼145 HC2¼145 Gazouli et al 2004 IBD¼205 Greece  c.3435C>T No genotype association CD¼120 UC¼85 HC¼100 Potocnik et al 2004 CD¼163 Slovenian  c.2677G>T/A T2677 allele associated with UC UC¼144  c.3435C>T T1236 allele associated with UC IBD¼307  c.1236C>T (rs1128503) Intron 13 SNP C allele associated with UCHC¼355  C>T (50 upstream promoter) Intron 16 SNP associated with UC  129T>C (Promotor) 50 upstream promoter SNP associated with refractory CD Intron 1b_-81 del G Intron 41 SNP associated with refractory CD  Intron 41_Ex04þ3854 G>T (rs1202172) T1236 allele associated with refractory CD  Intron 42_Ex05-1100A>G Intron 13 SNP associated with refractory CD and proctitis  Intron 13_Ex13þ81C>T (rs2235035) Intron 16 SNP associated with refractory CD  Intron16_Ex17-76T>A (intronic) rs1922242 3 risk haplotypes identified for UC (1236T/2677T/3435T and Intron13C/Intron16A/2677T and 1236T/Intron13C/Intron16A/ 2677T/3435T) One protective haplotype identified for UC Intron13T/Intron16T/2677G) Risk Haplotype 1236T/2677T/3435T associated with refractory CD Intron13T/Intron16T/2677G haplotype protective in proctitis TABLE 1. Login to comment