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

Coronary heart disease, susceptibility to

OMIM:
Mode of inheritance:Multifactorial
Disease classification:Diseases of the circulatory system


Polymorphisms

Gene symbolAPOE
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.

Gene symbolACE
Reference transcriptNM_000789.3
DNA ChangeInsertion/Deletion
A.A. Change
Exon/Intronintron 16
Variation Typeindel
Reference SNPrs1799752
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
D0.82270.5321p < 0.001
D/D95 (67.38%)36 (33.03%)
D/I42 (29.79%)44 (40.37%)
I/I4 (2.84%)29 (26.61%)
CommentsA significant association was foundnoted between ACE polymorphism and coronary heart disease
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.


Variant not named according to HGVS recommendations