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

IL17A

Gene name: interleukin 17A
OMIM ID: 603149
Chromosome location: 6p12.2

Polymorphisms

Disease/PhenotypeInflammatory bowel disease (Crohn disease) 1
Reference transcriptNM_002190.2
DNA Changec.-197G>A
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs2275913
Cases199 IBD patients
Controls311 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GG5 (2.75%)10 (3.46%)
GA48 (26.37%)74 (25.61%)1.00 (0.66-1.50) (Dominant)0.98
AA129 (70.88%)205 (70.93%)0.78 (0.26-2.34) (Recessive)0.66
ReferenceSenhaji N, Serrano A, Badre W, Serbati N, Karkouri M, Zaid Y, Nadifi S, Martin J. Association of inflammatory cytokine gene polymorphisms with inflammatory bowel disease in a Moroccan cohort.
Genes Immun. 2016 Jan-Feb;17(1):60-5. doi: 10.1038/gene.2015.52. Epub 2015 Dec 3.
Disease/PhenotypeInflammatory bowel disease (Crohn disease) 1
Reference transcriptNM_002190.2
DNA Changec.-877A>G
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs4711998
Cases199 IBD patients
Controls311 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GG32 (17.58%)44 (15.22%)
GA77 (42.31%)132 (45.67%)0.95 (0.65-1.40) (Dominant)0.82
AA73 (40.11%)113 (39.10%)1.18 (0.72-1.95) (Recessive)0.49
ReferenceSenhaji N, Serrano A, Badre W, Serbati N, Karkouri M, Zaid Y, Nadifi S, Martin J. Association of inflammatory cytokine gene polymorphisms with inflammatory bowel disease in a Moroccan cohort.
Genes Immun. 2016 Jan-Feb;17(1):60-5. doi: 10.1038/gene.2015.52. Epub 2015 Dec 3.
Disease/PhenotypeInflammatory bowel disease (Crohn disease) 1
Reference transcriptNM_002190.2
DNA Changec.*159G>A
A.A. Change
Exon/Intron3' of the stop codon
Variation Typesubstitution
Reference SNPrs7747909
Cases199 IBD patients
Controls311 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
AA2 (1.10%)6 (2.08%)
AG50 (27.47%)67 (23.18%)1.18 (0.78-1.79) (Dominant)0.42
GG130 (71.43%)216 (74.74%)0.52 (0.1-2.62) (Recessive)0.43
ReferenceSenhaji N, Serrano A, Badre W, Serbati N, Karkouri M, Zaid Y, Nadifi S, Martin J. Association of inflammatory cytokine gene polymorphisms with inflammatory bowel disease in a Moroccan cohort.
Genes Immun. 2016 Jan-Feb;17(1):60-5. doi: 10.1038/gene.2015.52. Epub 2015 Dec 3.
Disease/PhenotypeInflammatory bowel disease (Crohn disease) 1
Reference transcriptNM_002190.2
DNA Changec.-737C>T
A.A. Change
Exon/Intron3' of the stop codon
Variation Typesubstitution
Reference SNPrs8193036
Cases199 IBD patients
Controls311 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
CC6 (3.30%)15 (5.19%)
CT63 (34.62%)111 (38.41%)0.78 (0.54-1.15) (Dominant)0.22
TT113 (62.09%)163 (56.40%)0.62 (0.23-1.63) (Recessive)0.33
ReferenceSenhaji N, Serrano A, Badre W, Serbati N, Karkouri M, Zaid Y, Nadifi S, Martin J. Association of inflammatory cytokine gene polymorphisms with inflammatory bowel disease in a Moroccan cohort.
Genes Immun. 2016 Jan-Feb;17(1):60-5. doi: 10.1038/gene.2015.52. Epub 2015 Dec 3.
Disease/PhenotypeInflammatory bowel disease (Crohn disease) 1
Reference transcriptNM_002190.2
DNA Changec.-444A>G
A.A. Change
Exon/Intron3' of the stop codon
Variation Typesubstitution
Reference SNPrs3819024
Cases199 IBD patients
Controls311 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GG6 (3.30%)20 (6.92%)
GA60 (32.97%)88 (30.45%)0.95 (0.64-1.40) (Dominant)0.80
AA116 (63.74%)181 (62.63%)0.45 (0.18-1.16) (Recessive)0.10
ReferenceSenhaji N, Serrano A, Badre W, Serbati N, Karkouri M, Zaid Y, Nadifi S, Martin J. Association of inflammatory cytokine gene polymorphisms with inflammatory bowel disease in a Moroccan cohort.
Genes Immun. 2016 Jan-Feb;17(1):60-5. doi: 10.1038/gene.2015.52. Epub 2015 Dec 3.