Deep Resequencing of Ulcerative Colitis-Associated Genes Identifies Novel Variants in Candidate Genes in the Korean Population.

@article{Moon2018DeepRO,
  title={Deep Resequencing of Ulcerative Colitis-Associated Genes Identifies Novel Variants in Candidate Genes in the Korean Population.},
  author={Chang Mo Moon and Seung Won Kim and Jae Bum Ahn and Hyun Woo Ma and Xiumei Che and Tae Il Kim and Won Ho Kim and Jae Hee Cheon},
  journal={Inflammatory bowel diseases},
  year={2018},
  volume={24 8},
  pages={
          1706-1717
        }
}
Background Genome-wide association studies and meta-analyses have revealed the genetic background of ulcerative colitis (UC) by identifying common variants. However, these variants do not fully explain the disease variance in UC. To identify novel variants, we performed deep resequencing of UC-associated genes in Korean UC patients and subsequently investigated the functional roles of identified susceptibility genes. Methods We performed targeted deep resequencing of 108 genes in 24 Korean UC… 
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References

SHOWING 1-10 OF 82 REFERENCES
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease
TLDR
Next-generation sequencing is used to study 56 genes from regions associated with Crohn's disease in 350 cases and 350 controls to identify new, rare and probably functional variants that could aid functional experiments and predictive models.
Deep Resequencing of GWAS Loci Identifies Rare Variants in CARD9, IL23R and RNF186 That Are Associated with Ulcerative Colitis
TLDR
It is suggested that rare variants in genes identified by genome-wide association in UC are unlikely to contribute significantly to the overall variance for the disease, and are expected to help focus functional studies of the corresponding disease loci.
Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC 2
TLDR
A deep targeted resequencing of 122 genes in Dutch UC patients in order to investigate the contribution of rare variants to the genetic susceptibility to UC.
Deep resequencing of 131 Crohn's disease associated genes in pooled DNA confirmed three reported variants and identified eight novel variants
TLDR
The authors' deep resequencing of 131 CD associated genes confirmed 3 reported risk loci and identified 8 novel risk Loci for CD in Koreans, providing new insights into the genetic architecture of CD.
Pooled Sequencing of 531 Genes in Inflammatory Bowel Disease Identifies an Associated Rare Variant in BTNL2 and Implicates Other Immune Related Genes
TLDR
It is suggested that although rare coding variants may make a modest overall contribution to complex disease susceptibility, they can inform the understanding of the molecular pathways that contribute to pathogenesis.
A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population
TLDR
A two-stage genome-wide association study and subsequent replication study using 1,384 Japanese individuals with ulcerative colitis and 3,057 control subjects provides insight into the molecular pathogenesis of ulceratives colitis.
Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease
TLDR
The use of high-throughput resequencing of DNA pools to search for rare coding variants influencing susceptibility to Crohn's disease in 63 GWAS-identified positional candidate genes is described, finding low frequency coding variants conferring protection against inflammatory bowel disease in IL23R.
Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region
Ulcerative colitis is a common form of inflammatory bowel disease with a complex etiology. As part of the Wellcome Trust Case Control Consortium 2, we performed a genome-wide association scan for
Confirmation of the novel association at the BTNL2 locus with ulcerative colitis.
TLDR
Using 58 single nucleotide polymorphisms with 616 UC cases, there was significant association with SNP rs2294881 of the (butyrophilin-like 2) BTNL2 gene, but these three associated variants were neither in linkage disequilibrium with each other nor correlated with the SNPs tagging the human leukocyte antigen (HLA)-DRB1*1502 and HLA-DRB 1*0301 alleles.
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility
TLDR
A genome-wide association study with 440,794 SNPs genotyped in 1,167 individuals with UC and 777 healthy controls strongly suggests that defective IL10 function is central to the pathogenesis of the UC subtype of IBD.
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