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

APOA5

Gene name: apolipoprotein A-V
OMIM ID: 606368
Chromosome location: 11q23.3

Polymorphisms

Disease/PhenotypeAbdominal obesity-metabolic syndrome 1
Reference transcriptNM_052968.4
DNA Change-1131T>C
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs662799
Cases176
Controls105
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
TT28.4%61.9%1
TC66.9%32.4%10.13 (4.65-22.06)<0.0001
CC4.7%5.7%1.49 (0.37-6.00)0.575
TC+CC71.6%38.1%7.82 (3.79-16.14)<0.0001
ReferenceAjjemami M, Ouatou S, Charoute H, Fakiri M, Rhaissi H, Benrahma H, Rouba H, Barakat A.Haplotype analysis of the Apolipoprotein A5 gene in Moroccan patients with the metabolic syndrome.
J Diabetes Metab Disord. 2015 Apr 16;14:29.
Disease/PhenotypeAbdominal obesity-metabolic syndrome 1
Reference transcriptNM_001166598.1
DNA Changec.56C>G
A.A. Changep.Ser19Trp
Exon/Intronexon 3
Variation Typesubstitution
Reference SNPrs3135506
Cases176
Controls105
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
CC53.1%68%1
CG6.6%27.2%2.13 (1.05-4.31)0.035
GG10.3%4.8%1.72 (0.48-6.21)0.407
CG+GG46.9%32%2.07 (1.07-4.03)0.032
ReferenceAjjemami M, Ouatou S, Charoute H, Fakiri M, Rhaissi H, Benrahma H, Rouba H, Barakat A.Haplotype analysis of the Apolipoprotein A5 gene in Moroccan patients with the metabolic syndrome.
J Diabetes Metab Disord. 2015 Apr 16;14:29.
Disease/PhenotypeAbdominal obesity-metabolic syndrome 1
Reference transcriptNM_001166598.1
DNA Changec.553G>T
A.A. Changep.Gly185Cys
Exon/Intronexon 5
Variation Typesubstitution
Reference SNPrs2075291
Cases176
Controls105
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GG85.2%81.9%1
GT13.1%14.3%0.97 (0.38-2.48)0.943
TT1.7%3.8%0.27 (0.05-1.59)0.148
GT+TT14.8%18.1%0.73 (0.32-1.71)0.472
ReferenceAjjemami M, Ouatou S, Charoute H, Fakiri M, Rhaissi H, Benrahma H, Rouba H, Barakat A.Haplotype analysis of the Apolipoprotein A5 gene in Moroccan patients with the metabolic syndrome.
J Diabetes Metab Disord. 2015 Apr 16;14:29.
Disease/PhenotypeAbdominal obesity-metabolic syndrome 1
Reference transcriptNM_052968.4
DNA Change1259T>C (c.*158C>T)
A.A. Change
Exon/Intron3' of the ATG codon
Variation Typesubstitution
Reference SNPrs2266788
Cases176
Controls105
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
TT65.7%51%1
TC16%27.9%0.56 (0.25-1.27)0.166
CC18.3%21.1%0.69 (0.32-1.52)0.365
TC+CC34.3%49%0.63 (0.33-1.17)0.143
ReferenceAjjemami M, Ouatou S, Charoute H, Fakiri M, Rhaissi H, Benrahma H, Rouba H, Barakat A.Haplotype analysis of the Apolipoprotein A5 gene in Moroccan patients with the metabolic syndrome.
J Diabetes Metab Disord. 2015 Apr 16;14:29.
Disease/PhenotypeHypertension, susceptibility to
Reference transcriptNM_052968.4
DNA Change-1131T>C
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs662799
Cases149
Controls134
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
TT65.1%95.5%1
TC13.4%1.5%11.16 (2.46-50.69)0.002
CC21.5%3%14.20 (4.50-44.77)<0.0001
TC+CC34.9%4.5%13.20 (5.14-33.91)<0.0001
ReferenceOuatou S, Ajjemami M, Charoute H, Sefri H, Ghalim N, Rhaissi H, Benrahma H, Barakat A, Rouba H. Association of APOA5 rs662799 and rs3135506 polymorphisms with arterial hypertension in Moroccan patients.
Lipids Health Dis. 2014 Apr 1;13:60.
Disease/PhenotypeHypertension, susceptibility to
Reference transcriptNM_001166598.1
DNA Changec.56C>G
A.A. Changep.Ser19Trp
Exon/Intronexon 3
Variation Typesubstitution
Reference SNPrs3135506
Cases149
Controls134
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
CC71.1%87.3%1
CG14.1%11.2%1.54 (0.72-3.29)0.269
GG14.8%1.5%13.75 (3.01-62.75)0.001
CG+GG28.9%12.7%2.90 (1.49-5.63)0.002
ReferenceOuatou S, Ajjemami M, Charoute H, Sefri H, Ghalim N, Rhaissi H, Benrahma H, Barakat A, Rouba H. Association of APOA5 rs662799 and rs3135506 polymorphisms with arterial hypertension in Moroccan patients.
Lipids Health Dis. 2014 Apr 1;13:60.
Disease/PhenotypeHypertension, susceptibility to
Reference transcriptNM_001166598.1
DNA Changec.553G>T
A.A. Changep.Gly185Cys
Exon/Intronexon 5
Variation Typesubstitution
Reference SNPrs2075291
Cases149
Controls134
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GG88.6%97%1
GT10.1%2.2%4.72 (1.28-17.35)0.020
TT1.3%0.8%1.64 (0.14-19.78)0.695
GT+TT11.4%3%3.92 (1.23-12.43)0.02
ReferenceOuatou S, Ajjemami M, Charoute H, Sefri H, Ghalim N, Rhaissi H, Benrahma H, Barakat A, Rouba H. Association of APOA5 rs662799 and rs3135506 polymorphisms with arterial hypertension in Moroccan patients.
Lipids Health Dis. 2014 Apr 1;13:60.
Disease/PhenotypeIschemic stroke, susceptibility to
Reference transcriptNM_052968.4
DNA Change-1131T>C
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs662799
Cases175 patients
Controls201 controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
T255 (72.9%)326 (81.1%)1
C95 (27.1%)76 (18.9%)1.54 (1.01-2.33)0.007
TT99 (56.6%)134 (66.7%)1
TC 57 (32.6%)58 (28.8%)1.33 (0.85-2.08)0.212
CC19 (10.9%)9 (4.5%)2.86 (1.24-6.58)0.013
ReferenceDiakite B, Hamzi K, Hmimech W, Nadifi S; GMRAVC. Genetic polymorphisms of T-1131C APOA5 and ALOX5AP SG13S114 with the susceptibility of ischaemic stroke in Morocco.
J Genet. 2016 Jun;95(2):303-9.
Disease/PhenotypeIschemic stroke, susceptibility to
Reference transcriptNM_052968.4
DNA Change-1131T>C
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs662799
Cases118 MI patients
Controls184 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
T137 (58,05%)262 (71,19%)1
C99 (41,95%)106 (28,81%)1,78 (1,26-2,51)0.03
TT34 (28,81%)94 (51,08%)1
TC69 (58,47%)74 (40,21%)2,57 (1,56-4,17)0,3
CC15 (12,72%)16 (8,71%)2,60 (1,18-5,66)0,03
ReferenceHassani Idrissi H, Hmimech W, Diakite B, Korchi F, Baghdadi D, Habbal R, Nadifi S. Association of G894T eNOS, 4G/5G PAI and T1131C APOA5 polymorphisms with susceptibility to myocardial infarction in Morocco.
Meta Gene. 2016 Apr 3;9:56-61. doi: 10.1016/j.mgene.2016.03.004. eCollection 2016.
Disease/PhenotypeObesity, susceptibility to
Reference transcriptNM_052968.4
DNA Change-1131T>C
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs662799
Cases164 obeses
Controls295 non-obeses
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
TT77 (47.8%)20 (12.4%)1
TC64 (39.8%)90 (30.9%)1.69 (1.10-2.62)0.017
CC20 (12.4%)13 (4.5%)4.13 (1.86-9.03)<0.0001
ReferenceLakbakbi El Yaagoubi F, Charoute H, Bakhchane A, Ajjemami M, Benrahma H, Errouagui A, Kandil M, Rouba H, Barakat A. Association analysis of APOA5 rs662799 and rs3135506 polymorphisms with obesity in Moroccan patients.
Pathol Biol (Paris). 2015 Dec;63(6):243-7. doi: 10.1016/j.patbio.2015.09.002.
Disease/PhenotypeObesity, susceptibility to
Reference transcriptNM_001166598.1
DNA Changec.56C>G
A.A. Changep.Ser19Trp
Exon/Intronexon 3
Variation Typesubstitution
Reference SNPrs3135506
Cases164 obeses
Controls295 non-obeses
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
CC95 (58.3%)211 (72%)1
CG47 (28.8%)68 (23.2%)1.69 (1.07-2.68)0.026
GG21 (12.9%)14 (4.8%)3.16 (1.52-6.62)0.002
ReferenceLakbakbi El Yaagoubi F, Charoute H, Bakhchane A, Ajjemami M, Benrahma H, Errouagui A, Kandil M, Rouba H, Barakat A. Association analysis of APOA5 rs662799 and rs3135506 polymorphisms with obesity in Moroccan patients.
Pathol Biol (Paris). 2015 Dec;63(6):243-7. doi: 10.1016/j.patbio.2015.09.002.