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ABCB1

From SNPedia
(Redirected from MDR1)

is agene
is mentioned by
Full nameATP-binding cassette, sub-family B (MDR/TAP), member 1
Other namesMDR1
EntrezGene5243
PheGenI5243
VariationViewer5243
ClinVarABCB1
GeneCardsABCB1
dbSNP5243
SADR5243
HugeNav5243
wikipediaABCB1
googleABCB1
gopubmedABCB1
EVSABCB1
HEFalMpABCB1
MyGene2ABCB1
23andMeABCB1
UniProtP08183
EnsemblENSG00000085563
OMIM171050
# SNPs45
 Max MagnitudeChromosome positionSummary
rs100220587,511,858
rs10248420287,535,670
rs1027603687,550,882
rs1028010187,524,269
rs1045642387,509,329
rs1128501087,566,218
rs1128503087,550,285
rs11983225287,532,204
rs120218487,584,585
rs120218687,583,942
rs1272006787,540,040
rs1732744287,583,674
rs20325821.587,531,302
rs2032583287,531,245
rs209176687,545,188
rs218852487,601,119
rs2214102087,600,185
rs2229107087,509,343
rs2229109087,550,493
rs2235015287,570,248
rs223503587,549,770
rs2235040287,536,434
rs223504687,544,750
rs2235067287,520,606
rs28364274087,504,335
rs2837309387,714,707
rs2840178187,519,012
rs2874650487,602,095
rs3213619087,600,877
rs34976462087,600,893
rs35023033087,544,882
rs35730308087,509,442
rs35810889087,585,532
rs378924387,591,570
rs3842087,504,050
rs414873787,541,836
rs414873887,533,733
rs4148739287,531,733
rs414874087,522,787
rs472870287,551,362
rs72552784087,516,598
rs777956287,515,500
rs7787082087,527,735
rs9282564087,600,124
rs95682587,562,959

Many polymorphisms have been reported for this gene, also known as MDR1.

ABCB1, also called CD243, codes for a cell membrane protein, P-glycoprotein(permeability glycoprotein, abbreviated as P-gp), that transports chemicals out of cells. It is expressed in various tissues, including the blood–brain barrier. Two SNPs are discussed frequently; note that they may be in linkage disequilibrium:

  • rs2032582, also known as G2677T, is mentioned by:
    • [PMID 17120199] The G2677T/A (T) variant in exon 21 is at a 2.6 fold higher risk of developing lung cancer. Another SNP, C3435T (in exon 26) may modulate the influence. (G2677 is also known as Ala893Thr.) The highest risk for lung cancer (up to 20 fold higher risk) is seen for 2677(T;T) plus heterozygous 3435(C;T) carriers.
  • rs1045642, also known as C3435T, is mentioned by:
    • [PMID 17185560] A "Silent" Polymorphism in the MDR1 Gene Changes Substrate Specificity.
    • [PMID 17190370] (R)-lansoprazole (Prevacid) concentrations are significantly increased in CYP2C19 extensive metabolizers with ABCB1 C3435T C allele.
    • [PMID 15536457] In a Korean population, plasma concentrations of fexofenadine (Allegra) were 17% lower in 2677AA/3435CC subjects and 47% higher in the 2677TT/3435TT subjects compared to 2677GG/3435CC subjects.
    • [PMID 11994059] In contrast, in this study no association was observed between the C3435T polymorphism and fexofenadine plasma or urine concentrations in a German Caucasian population.


A general article on MDR1 SNPs is:

  • [PMID 17187507] Ethnicity-related polymorphisms and haplotypes in the human ABCB1 gene.