Risk Genes of Inflammatory Bowel Disease in Asia: What Are the Most Important Pathways Affected?

Guo, Changcun; Wu, Kaichun

doi:10.1159/000442917

Cited by 8 publications

(4 citation statements)

References 43 publications

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“…Furthermore, it is noted that familial aggregation is lower among South Asian IBD patients. This contributed to the hypothesis that genetic contribution to IBD is lower among Asians compared to their Caucasian counterparts, which is refuted by some scientists[12].…”

Section: Discussionmentioning

confidence: 99%

Genetic associations of inflammatory bowel disease in a South Asian population

Niriella

Liyanage

Kodisinghe

et al. 2018

WJCC

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AIMTo estimate prevalence and phenotypic associations of selected inflammatory bowel disease (IBD)-associated genetic variants among Sri Lankan patients.METHODSA case study of histologically confirmed ulcerative colitis (UC) or Crohn’s disease (CD) patients with ≥ 1 year disease duration, who were compared to unrelated, gender-matched, healthy individuals as controls, was conducted at four major centers in Sri Lanka. Phenotypic data of the cases were obtained and all participants were genotyped for 16 selected genetic variants: IL12B:rs1045431, IL23R:rs11805303, ARPC2:rs12612347, IRGM:rs13361189, IL26/IL22:rs1558744, CDH1:rs1728785, IL10:rs3024505, FCGR2A:rs3737240, PTGER4:rs4613763, IL17REL/PIM3:rs5771069, HNF4a:rs6017342, STAT3:rs744166, SMURF1:rs7809799, LAMB1:rs886774, HLA-DRB5, DQA1, DRB1, DRA:rs9268853, MST1, UBA7, and APEH:rs9822268. The genotypes of all variants were in Hardy-Weinberg Equilibrium (P > 10−3). To account for multiple hypothesis testing, P-values < 0.003 were considered significant.RESULTSA total of 415 patients and 465 controls were recruited. Out of the single nucleotide polymorphisms (SNPs) tested, the majority were not associated with IBD in Sri Lankans. Significant positive associations were noted between rs886774 (LAMB1-gene) and UC (odds ratio (OR) = 1.42, P = 0.001). UC patients with rs886774 had mild disease (OR = 1.66, P < 0.001) and remained in remission (OR = 1.48, P < 0.001). A positive association was noted between rs10045431 (IL 12B gene) and upper gastrointestinal involvement in CD (OR = 4.76, P = 0.002).CONCLUSIONThis confirms the heterogeneity of allelic mutations in South Asians compared to Caucasians. Most SNPs and disease associations reported here have not been described in South Asians.

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Section: Discussionmentioning

confidence: 99%

Genetic associations of inflammatory bowel disease in a South Asian population

Niriella

Liyanage

Kodisinghe

et al. 2018

WJCC

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“…To the best of our knowledge, over 200 single nucleotide polymorphisms (SNPs) in several genes (such as NOD2/CARD15, NOD1/CARD4 , and ABCB1 ) are related to CD in Western populations [6–9]. However, due to genetic differences, some SNPs failed to show a link to CD in the Asian population [10,11]. For example, mutations within genes from the NOD2/CARD15, ATG16L1 , and IL23/Th17 signaling pathways were demonstrated to confer susceptibility to CD only in Western patients and not in Chinese and Japanese patients [12–15].…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms of the TNF Gene and Three Susceptibility Loci Are Associated with Crohn’s Disease and Perianal Fistula Crohn’s Disease: A Study among the Han Population from South China

Zhang

Wang²,

Jiang

et al. 2019

Med Sci Monit

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BackgroundAlthough 90 susceptibility loci of Crohn’s disease (CD) have been confirmed in the Asian population, susceptibility genes for perianal fistula of CD (pCD) in this population remain unknown. This study explored susceptibility genes for CD and pCD in the Han population from South China.Material/MethodsIn total, 490 patients diagnosed with CD between July 2012 and June 2016 at the Sixth Affiliated Hospital of Sun Yat-sen University were included and divided into the CD group (n=240) and the pCD group (n=250). The healthy control group was composed of 260 volunteers. Peripheral blood samples were taken, and single nucleotide polymorphism (SNP) locus sequencing was used to screen for susceptibility loci. SNPs were sequenced using matrix-assisted laser desorption ionization time-of-flight mass spectrometry.ResultsNine SNPs in TNFSF1 on chromosome 9 were associated with CD. Among them, the rs6478106 locus is a risk locus for CD. The distribution frequency of the T allele of the rs6478106 SNP was significantly different between cases and controls (32.49% versus 18.27%, P<0.001). Rs72553867, located in the IRGM gene on chromosome 5, rs4409764, located in the NKX2–3 gene on chromosome 10, and rs3731772, located in the AOX1 gene on chromosome 2, were susceptibility factors for pCD. Nine SNPs located in TNFSF15 on chromosome 9 were related to CD in Han individuals from Southern China.ConclusionsThe rs6478106 T allele is associated with the risk of CD in the investigated population. SNPs rs72553867 (IRGM gene), rs4409764 (NKX2–3 gene), and rs3731772 (AOX1 gene) increase the risk of pCD.

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“…We also identified 51 eQTL at 18 IBD risk loci. The association of the human leucocyte antigen (HLA) region with Asian IBD risk has been replicated in several studies and was found to make a bigger contribution to the Asian IBD than to that of Caucasians . The HLA region has extended LD, and the association of this region with IBD may be caused by a tight LD between a causal variant and a tag SNP.…”

Section: Discussionmentioning

confidence: 95%