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

TLR4

Gene name: toll-like receptor 4
OMIM ID: 603030
Chromosome location: 9q33.1

Polymorphisms

Disease/PhenotypeInflammatory bowel disease (Crohn disease) 1
Reference transcriptNM_138554.4
DNA Changec.896A>G
A.A. Changep.Asp299Gly
Exon/Intronexon 3
Variation Typesubstitution
Reference SNPrs4986790
Cases83 with Crohn’s disease
Controls112
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G5.4%4.5%1.23 (0.49-3.09)0.66
AG10.8%7.1%1.57 (0.58-4.25)0.38
ReferenceSenhaji N, Diakité B, Serbati N, Zaid Y, Badre W, Nadifi S.Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms: New data and a meta-analysis.
BMC Gastroenterol. 2014 Dec 10;14:206.
Disease/PhenotypeInflammatory bowel disease (Crohn disease) 1
Reference transcriptNM_138554.4
DNA Changec.896A>G
A.A. Changep.Asp299Gly
Exon/Intronexon 3
Variation Typesubstitution
Reference SNPrs4986790
Cases34 with ulcerative colitis
Controls112
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G8.8%4.5%2.07 (0.72-5.92)0.17
AG17.6%7.1%2.76 (0.88-8.61)0.08
ReferenceSenhaji N, Diakité B, Serbati N, Zaid Y, Badre W, Nadifi S.Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms: New data and a meta-analysis.
BMC Gastroenterol. 2014 Dec 10;14:206.
Disease/PhenotypeInflammatory bowel disease (Crohn disease) 1
Reference transcriptNM_138554.4
DNA Changec.1196C>T
A.A. Changep.Thr399Ile
Exon/Intronexon 3
Variation Typesubstitution
Reference SNPrs4986791
Cases83 with Crohn’s disease
Controls112
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
T4.2%1.3%3.24 (0.83-12.74)0.09
CT8.4%2.7%3.35 (0.84-13.35)0.09
ReferenceSenhaji N, Diakité B, Serbati N, Zaid Y, Badre W, Nadifi S.Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms: New data and a meta-analysis.
BMC Gastroenterol. 2014 Dec 10;14:206.
Disease/PhenotypeInflammatory bowel disease (Crohn disease) 1
Reference transcriptNM_138554.4
DNA Changec.1196C>T
A.A. Changep.Thr399Ile
Exon/Intronexon 3
Variation Typesubstitution
Reference SNPrs4986791
Cases34 with ulcerative colitis
Controls112
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
T4.4%1.3%3.4 (0.67-17.25)0.14
CT2.9%2.7%1.14 (0.11-11.29)0.91
TT2.9%-10.11 (0.40-254.1)0.16
ReferenceSenhaji N, Diakité B, Serbati N, Zaid Y, Badre W, Nadifi S.Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms: New data and a meta-analysis.
BMC Gastroenterol. 2014 Dec 10;14:206.
Disease/PhenotypeMycobacterium tuberculosis, susceptibility to
Reference transcriptNM_003266.3
DNA Changec.*1205G>C
A.A. Change
Exon/Intron3' of the stop codon
Variation Typesubstitution
Reference SNPrs11536889
Cases342
Controls199
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G87%92%0.61 (0.39-0.95)
C13%8%1.63 (1.06-2.57)0.021
GG78%84%0.68 (0.42-1.10)0.100
GC18%15%1.20 (0.73-1.98)0.448
CC4%0.5%7.82 (1.06-161.44)0.040
ReferenceArji N, Busson M, Iraqi G, Bourkadi JE, Benjouad A, Bouayad A, Mariaselvam C, Salah S, Fortier C, Amokrane K, Marzais F, Boukouaci W, Krishnamoorthy R, Charron D, El Aouad R, Tamouza R.Genetic diversity of TLR2, TLR4, and VDR loci and pulmonary tuberculosis in Moroccan patients.
J Infect Dev Ctries. 2014 Apr 15;8(4):430-40.