PMID: 23443032

Omoumi A, Wang Z, Yeow V, Wu-Chou YH, Chen PK, Ruczinski I, Cheng J, Cheah FS, Lee CG, Beaty TH, Chong SS
Fetal polymorphisms at the ABCB1-transporter gene locus are associated with susceptibility to non-syndromic oral cleft malformations.
Eur J Hum Genet. 2013 Dec;21(12):1436-41. doi: 10.1038/ejhg.2013.25. Epub 2013 Feb 27., [PubMed]
Sentences
No. Mutations Sentence Comment
49 ABCB1 p.Gly1249Ala
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ABCB1 p.Gly1249Ala 23443032:49:753
status: NEW
view ABCB1 p.Gly1249Ala details
 Description Association with function or disease phenotype Reference numbers e12/C1236T rs1128503 G412G Increased exposure to irinotecan in cancer patients Altered ABCB1 expression in 3t3 isogenic fibroblasts Lower ABCB1 expression 36 33 34 ABCB1 e21/G2677T e21/G2677A rs2032582 A893S A893T Less placental trophoblast ABCB1 expression in T and A carriers 29 e26/C3435T rs1045642 I1145I Alteration in the rate of translation Lower ABCB1 expression Affects mRNA stability 37 34 38 ABCC1 5`FR/G-260C rs504348 50 UTR Evidence of recent positive selection in European-Americans 39 ABCC2 e1/C-24T rs717620 24C4T Influenced ABCC2 mRNA expression in normal kidney cortex and liver samples but not placenta Evidence of recent positive selection 22,30,39 39 e10/G1249A rs2273697 V471I Decreased ABCC2 mRNA levels in preterm placentas Evidence of recent positive selection 22 39 ABCG2 e5/C421A rs2231142 Q141K Reduced ABCG2 activity Decreased ABCG2 protein level in placenta Evidence of recent positive selection Substrate recognition and/or transport of drugs 40 41 39 42 e2/G34A rs2231137 V12M Reduced ABCG2 activity Substrate recognition and/or transport of drugs 40 42 I9/T-357C rs2054576 Intron Alteration of pre-mRNA splicing 43 volume of 10ml containing 1 ng of genomic DNA, 5 ml 2  PCR master mix buffer (Qiagen), and 0.5 mM of each primer (information of PCR primers are available in Supplementary Table S3). Login to comment 73 ABCB1 p.Gly1249Ala
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ABCB1 p.Gly1249Ala 23443032:73:460
status: NEW
view ABCB1 p.Gly1249Ala details
 n1 n2 Not-transmitted Observed Correcteda OR 95% CI ABCB1 e12/C1236T rs1128503 150 108 T: 92/45 C: 45/92 5.1  10-5 4.6  104 2.04 1.45-2.99 e21/G2677T e21/G2677A rs2032582 150 111 G: 78/91 T: 96/64 A: 23/42 0.008 0.072 1.50b 1.08-2.09 e26/C3435T rs1045642 150 110 C: 56/87 T: 87/56 0.009 0.081 1.55 1.10-2.21 ABCC1 5`FR/G-260C rs504348 150 7 G: 03/04 C: 04/03 0.705  1.33 0.23-9.10 ABCC2 e1/C-24T rs717620 150 76 C: 41/50 T: 50/41 0.345  1.24 0.811.93 e10/G1249A rs2273697 150 53 G: 34/22 A: 22/34 0.107  1.55 0.88-2.77 e5/C421A rs2231142 150 110 C: 70/62 A: 62/70 0.486  1.13 0.79-1.62 ABCG2 e2/G34A rs2231137 150 105 G: 54/71 A: 71/54 0.127  1.32 0.91-1.91 I9/T-357C rs2054576 150 91 T: 59/51 C: 51/59 0.445  1.16 0.78-1.72 Abbreviations: CI, confidence Interval; OR, odds ratio; n1, number of family samples which were successfully genotyped; n2, number families with at least one heterozygote parent. Login to comment