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

APOE

Gene name: apolipoprotein E
OMIM ID: 107741
Chromosome location: 19q13.32

Polymorphisms

Disease/PhenotypeCoronary heart disease, susceptibility to
DNA Change
A.A. Change[E2:ARG158CYS] [E3:CYS112 AND ARG158] [E4:CYS112ARG]
Variation Typesubstitution
Cases141 patients (112 men and 29 women)
Controls109 controls (52 men and 57 women)
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
E20,06740,0367 p>0,05
E30,79790,9037 p<0,01
E40.13480.0596 p<0.02
E2/E21 (0,71%)1 (0,92%)
E2/E314 (9,93%)5 (4,59%)
E2/E43 (2,13%)1 (0,92%)
E3/E395 (67,38%)92 (84,40%)
E3/E421 (14,89%)8 (7,34%)
E4/E47 (4,96%)2 (1,83%)
CommentsAn evident association have been found between coronary heart disease and apo E polymorphism.
ReferenceBennouar N, Allami A, Laraqui A, Azeddoug H, El-Kadiri N, Benkouka F, Bendriss A, Ghannam R, Benomar A, Fellat S, Benomar M.[Apolipoprotein E and angiotensin-converting enzyme gene polymorphisms as risk factors of coronary disease].
Ann Biol Clin (Paris). 2004 May-Jun;62(3):295-304.

Disease/PhenotypeEnd-stage renal disease (ESRD)
DNA Change
A.A. Change[E2:ARG158CYS] [E3:CYS112 AND ARG158] [E4:CYS112ARG]
Variation Typeothers
Cases109 end-stage renal disease patients
Controls97 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
e373%82%1
e23%6%0.473 (0.181-1.235)0.093
e424%12%0.491 (0.277-0.870)0.009
E3/E348%67%1
E2/E35%10%0.613 (0.197-1.904)0.285
E2/E42%3%0.818 (0.132–5.074)0.600
E3/E445%20%0.316 (0.166–0.601)<0.001
ReferenceLahrach H, Essiarab F, Timinouni M, Hatim B, El Khayat S, Er-Rachdi L, Jarir J, Kettani A, Ghalim N, Taki H, Lebrazi H, Ramdani B, Saïle R.Association of apolipoprotein E gene polymorphism with end-stage renal disease and hyperlipidemia in patients on long-term hemodialysis.
Ren Fail. 2014 Nov;36(10):1504-9.


  Variant not named according to HGVS recommendations