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Copyright ©The Author(s) 2015.
World J Gastroenterol. Oct 28, 2015; 21(40): 11282-11303
Published online Oct 28, 2015. doi: 10.3748/wjg.v21.i40.11282
Table 3 Genetic association studies of infliximab response in inflammatory bowel disease patients
Study (year)Patients recruitedResponse criteriaGenes investigatedConclusion
Taylor et al[55] (2001)75CDAIPolymorphims TNF/LTA regionHomozygosity for the LTA1-1-1-1 haplotype may identify subgroups with poorer response
Louis et al[56] (2002)226CDAITNFANo association with treatment outcome
Mascheretti et al[57] (2002)90CDAITNF and TNFR polymorphism196Arg homozygotes had poorer clinical response than 196Met
444heterozygotes and homozygotes (P = 0.036)
No predictive treatment outcome
Mascheretti et al[58] (2002)534CDAICARD15/NOD2A strong relation to susceptibility to CD but not association with treatment outcome
Vermeire et al[59] (2002)245CDAICARD15/NOD2Not predictive of treatment outcome
Pierik et al[60] (2004)166CDAITNF/TNFRBiological response to infliximab was lower in patients carrying TNFR1-36G
Matsukura et al[61] (2008)TNFRSF1A28% of G allele heterozygotes and homozygotes responded
80HBITNFRSF1Bcompared to 73% of A allele homozygotes (P = 0.04)
5% of patients with AT haplotype responded compared to 20%-40% of patients with other haplotypes (P = 0.01)
Louis et al[62] (2004)200CDAIFcγRIIIaPositive (V/V genotype) association with good treatment outcome
Urcelay et al[63] (2005)40CDAIIBD5(5q31)Polymorphims TT is associated with negative response
Hlavaty et al[64] (2005)287CDAIFASL/CASP9Positive association
Hlavaty et al[65] (2007)287CDAIFASLNegative association (stadistical model)
Willot et al[66] (2006)189CRPCRPPolymorphims evaluated are not associated with treatment outcome
Dideberg et al[67] (2006)214CDAITNF/LTA regionNo association
Dideberg et al[68] (2006)186CDAI and CRPADAM17Minor allele homozygotes for each SNP associated with clinicalresponse (P < 0.002)
Jürgens et al[69] (2010)90CAIIL-23RIL-2/IL-21Homozygous carriers of IBDrisk-increasing IL-23R variants more likely to respond to infliximab than homozygous carriers of IBD risk-decreasing IL-23R variants (P = 0.001)
Dubinsky et al[70] (2010)94HBI and Partial Mayo scorers2241880 2q37/ATG16L1rs21889625q31rs6908425 6p22/CDKAL1rs762421 21q22/ICOSLGrs2395185 6p21/HLA-DAQ1rs2836878 21q22/BRWD1Six known susceptibility lociassociated with primary nonresponse(P < 0.05). Only the 21q22.2/BRWDIloci remained significant in thepredictive model