Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Leukemia, chronic myeloid

OMIM:608232
Mode of inheritance:Somatic mutation
Disease classification:Neoplasms


Polymorphisms

Gene symbolGSTM1
DNA Changenull or non-null genotype
A.A. Change
Variation Typeothers
Cases92
Controls93
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
non-null genotype51.1%59.1%1
null genotype48.9%40.9%1.4 (0.78-2.48)0.271
ReferenceKassogue Y, Dehbi H, Quachouh M, Quessar A, Benchekroun S, Nadifi S.Association of glutathione S-transferase (GSTM1 and GSTT1) genes with chronic myeloid leukemia.
Springerplus. 2015 May 1;4:210.
Gene symbolGSTT1
DNA Changenull or non-null genotype
A.A. Change
Variation Typeothers
Cases92
Controls93
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
non-null genotype82.6%90.3%1
null genotype17.4%9.7%1.97 (0.82-4.71)0.13
ReferenceKassogue Y, Dehbi H, Quachouh M, Quessar A, Benchekroun S, Nadifi S.Association of glutathione S-transferase (GSTM1 and GSTT1) genes with chronic myeloid leukemia.
Springerplus. 2015 May 1;4:210.
Gene symbolABCB1
Reference transcriptNM_000927.4
DNA Changec.1236T>C
A.A. Changep.Gly412Gly
Exon/Intronexon 13
Variation Typesubstitution
Reference SNPrs1128503
Cases89 CML patients
Controls99 unrelated healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C62.36%68.2%1
T37.64%31.8%1.3 (0.8-1.9)0.28
CC44.9%43.4%1
CT34.8%49.5%0.7 (0.4-1.3)0.225
TT20.3%7.1%2.7 (1-7.32)0.041
CT+TT55.1%56.6%0.9 (0.5-1.7)0.835
ReferenceYaya K, Hind D, Meryem Q, Asma Q, Said B, Sellama N.Single nucleotide polymorphisms of multidrug resistance gene 1 (MDR1) and risk of chronic myeloid leukemia.
Tumour Biol. 2014 Nov;35(11):10969-75.
Gene symbolABCB1
Reference transcriptNM_000927.4
DNA Changec.2677T>G (2677G>T/A)
A.A. Changep.Ser893Ala
Exon/Intronexon 22
Variation Typesubstitution
Reference SNPrs2032582
Cases89 CML patients
Controls99 unrelated healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G76.4%72.22%1
T23.6%27.78%0.8 (0.5-1.3)0.406
GG59.6%48.5%1
GT33.7%47.5%0.6 (0.32-1.1)0.074
TT6.7%4%1.36 (0.36-5.1)0.65
GT+TT40.4%51.5%0.64 (0.36-1.14)0.13
ReferenceYaya K, Hind D, Meryem Q, Asma Q, Said B, Sellama N.Single nucleotide polymorphisms of multidrug resistance gene 1 (MDR1) and risk of chronic myeloid leukemia.
Tumour Biol. 2014 Nov;35(11):10969-75.
Gene symbolABCB1
Reference transcriptNM_000927.4
DNA Changec.3435T>C
A.A. Changep.Ile1145Ile
Exon/Intronexon 27
Variation Typesubstitution
Reference SNPrs1045642
Cases89 CML patients
Controls99 unrelated healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C68%65.15%1
T32%34.15%0.88 (0.57-1.35)0.591
CC50.6%39.4%1
CT34.8%51.5%0.5 (0.3-1)0.042
TT14.6%9.1%1.25 (0.48-3.2)0.644
CT49.4%61.6%0.64 (0.36-1.13)0.125
ReferenceYaya K, Hind D, Meryem Q, Asma Q, Said B, Sellama N.Single nucleotide polymorphisms of multidrug resistance gene 1 (MDR1) and risk of chronic myeloid leukemia.
Tumour Biol. 2014 Nov;35(11):10969-75.
Gene symbolCYP2B6
Reference transcript NM_000767.4
DNA Changec.516G>T
A.A. Changep.Gln172His
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs3745274
Cases48
Controls64
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G42%44.5%1
T58%55.5%1.12 (0.6-2)0.669
GG12.5%12.5%1
GT58.3%64.1%1 (0.3-2.9)0.874
TT29.2%23.4%1.24 (0.3-4.5)0.739
ReferenceKassogue Y, Quachouh M, Dehbi H, Quessar A, Benchekroun S, Nadifi S.Functional polymorphism of CYP2B6 G15631T is associated with hematologic and cytogenetic response in chronic myeloid leukemia patients treated with imatinib.
Med Oncol. 2014 Jan;31(1):782.

Variant not named according to HGVS recommendations