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

CTLA4

Gene name: cytotoxic T-lymphocyte-associated protein 4
OMIM ID: 123890
Chromosome location: 2q33.2

Polymorphisms

Disease/PhenotypeDiabetes mellitus, insulin-dependent, susceptibility to
Reference transcriptNM_001037631.2
DNA Changec.-1722T>C
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs733618
Cases118 type 1 diabetic (T1D) patients
Controls114 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
T220 (93.0%)219 (96.0%)0.57 (0.24-1.31)0.18
C16 (6.7%)9 (4.0%)1.77 (0.77-4.09)
TT103 (87.0%)105 (92.0%)0.59 (0.25-1.40)0.23
TC14 (12.0%)9 (8.0%)1.57 (0.65-3.79)0.31
CC1 (1.0%)00.32
ReferenceBouqbis L, Izaabel H, Akhayat O, P?rez-Lezaun A, Calafell F, Bertranpetit J, Comas D. Association of the CTLA4 promoter region (-1661G allele) with type 1 diabetes in the South Moroccan population.
Genes Immun. 2003 Mar;4(2):132-7.
Disease/PhenotypeDiabetes mellitus, insulin-dependent, susceptibility to
Reference transcriptNM_001037631.2
DNA Changec.-1661A>G
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs4553808
Cases118 type 1 diabetic (T1D) patients
Controls114 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G81 (34.0%)45 (20.0%)2.13 (1.39-3.24)0.0004
A155 (66.0%)183 (80.0%)0.47 (0.31-0.72)
AA52 (44.0%)76 (67.0%)0.39 (0.23-0.67)0.0005
AG51 (43.0%)31 (27.0%)2.04 (1.18-3.53)0.01
GG15 (13.0%)7 (6.0%)2.23 (0.87-5.68)0.09
CommentsThe -1661G allele showed a significant association with an odds ratio of 2.13
ReferenceBouqbis L, Izaabel H, Akhayat O, P?rez-Lezaun A, Calafell F, Bertranpetit J, Comas D. Association of the CTLA4 promoter region (-1661G allele) with type 1 diabetes in the South Moroccan population.
Genes Immun. 2003 Mar;4(2):132-7.
Disease/PhenotypeDiabetes mellitus, insulin-dependent, susceptibility to
Reference transcriptNM_001037631.2
DNA Changec.-319C>T
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs5742909
Cases118 type 1 diabetic (T1D) patients
Controls114 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C224 (95.0%)224 (98.0%)0.33 (0.11-1.05)0.049
T12 (5.0%)4 (2.0%)3.00 (0.95-9.44)
CC106 (90.0%) 110 (96.0%)0.32 (0.10-1.03)0.045
CT12 (10.0%)4 (4.0%)3.11 (0.97-9.96)0.045
TT00
ReferenceBouqbis L, Izaabel H, Akhayat O, P?rez-Lezaun A, Calafell F, Bertranpetit J, Comas D. Association of the CTLA4 promoter region (-1661G allele) with type 1 diabetes in the South Moroccan population.
Genes Immun. 2003 Mar;4(2):132-7.
Disease/PhenotypeDiabetes mellitus, insulin-dependent, susceptibility to
Reference transcriptNM_001037631.2
DNA Changec.49A>G
A.A. Changep.Thr17Ala
Exon/Intronexon 1
Variation Typesubstitution
Reference SNPrs231775
Cases118 type 1 diabetic (T1D) patients
Controls114 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
A170 (72.0%) 165 (72.0%)0.98 (0.66-1.48)0.94
G66 (28.0%)63 (28.0%)1.02 (0.68-1.53)
AA59 (50.0%)59 (52.0%)0.93 (0.56-1.56)0.79
AG52 (44.0%)47 (41.0%)1.12 (0.67-1.89)0.66
GG7 (6.0%)8 (7.0%)0.84 (0.29?2.39)0.74
ReferenceBouqbis L, Izaabel H, Akhayat O, P?rez-Lezaun A, Calafell F, Bertranpetit J, Comas D. Association of the CTLA4 promoter region (-1661G allele) with type 1 diabetes in the South Moroccan population.
Genes Immun. 2003 Mar;4(2):132-7.