Genome-wide association study of right-sided colonic diverticulosis in a Korean population

Eun Kyung Choe, Jong Eun Lee, Su Jin Chung, Sun Young Yang, Young Sun Kim, Eun Soon Shin, Seung Ho Choi, Jung Ho Bae

Research output: Contribution to journalArticleResearchpeer-review

Abstract

Diverticulosis results from complex interactions related to aging, environmental factors and genetic predisposition. Despite epidemiologic evidence of genetic risk factors, there has been no attempt to identify genes that confer susceptibility to colonic diverticulosis. We performed the first genome-wide association study (GWAS) on susceptibility to diverticulosis in a Korean population. A GWAS was carried out in 7,948 healthy individuals: 893 patients and 1,075 controls comprised the test set, and 346 patients and 305 controls comprised the replication set. Diverticulosis was diagnosed by colonoscopy during comprehensive medical check-ups, and single-nucleotide polymorphisms (SNPs) related to diverticulosis were detected with the Affymetrix Axiom KORV1.1-96 Array. In all, 9 SNPs were identified in three SNP aggregates in the test set (P < 10 −3 , within 200 kb) after adjusting for sex. All the SNPs were replicated in the replication set (P < 0.05). Three SNPs were near the WNT4 gene, four near the RHOU gene, and two in the OAS1/3 genes. The top SNP associated with right-sided colonic diverticulosis was rs22538787, located near the WNT4 gene [combined set, P-value = 3.128 × 10 −6 , odds ratio = 1.415 (95% confidence interval: 1.223–1.637)]. These 9 novel SNP alleles associated with the WNT4, RHOU, and OAS1/3 genes are possibly involved in the underlying genetic susceptibility to right-sided diverticulosis. Our results provide basic knowledge about the development of diverticulosis in an Asian population.

Original languageEnglish
Article number7360
Pages (from-to)7360
JournalScientific Reports
Volume9
Issue number1
DOIs
StatePublished - 14 May 2019

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Colonic Diverticulosis
Genome-Wide Association Study
Diverticulum
Single Nucleotide Polymorphism
Population
Genes
Genetic Predisposition to Disease
Colonoscopy
Alleles
Odds Ratio
Confidence Intervals

Cite this

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title = "Genome-wide association study of right-sided colonic diverticulosis in a Korean population",
abstract = "Diverticulosis results from complex interactions related to aging, environmental factors and genetic predisposition. Despite epidemiologic evidence of genetic risk factors, there has been no attempt to identify genes that confer susceptibility to colonic diverticulosis. We performed the first genome-wide association study (GWAS) on susceptibility to diverticulosis in a Korean population. A GWAS was carried out in 7,948 healthy individuals: 893 patients and 1,075 controls comprised the test set, and 346 patients and 305 controls comprised the replication set. Diverticulosis was diagnosed by colonoscopy during comprehensive medical check-ups, and single-nucleotide polymorphisms (SNPs) related to diverticulosis were detected with the Affymetrix Axiom KORV1.1-96 Array. In all, 9 SNPs were identified in three SNP aggregates in the test set (P < 10 −3 , within 200 kb) after adjusting for sex. All the SNPs were replicated in the replication set (P < 0.05). Three SNPs were near the WNT4 gene, four near the RHOU gene, and two in the OAS1/3 genes. The top SNP associated with right-sided colonic diverticulosis was rs22538787, located near the WNT4 gene [combined set, P-value = 3.128 × 10 −6 , odds ratio = 1.415 (95{\%} confidence interval: 1.223–1.637)]. These 9 novel SNP alleles associated with the WNT4, RHOU, and OAS1/3 genes are possibly involved in the underlying genetic susceptibility to right-sided diverticulosis. Our results provide basic knowledge about the development of diverticulosis in an Asian population.",
author = "Choe, {Eun Kyung} and Lee, {Jong Eun} and Chung, {Su Jin} and Yang, {Sun Young} and Kim, {Young Sun} and Shin, {Eun Soon} and Choi, {Seung Ho} and Bae, {Jung Ho}",
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Genome-wide association study of right-sided colonic diverticulosis in a Korean population. / Choe, Eun Kyung; Lee, Jong Eun; Chung, Su Jin; Yang, Sun Young; Kim, Young Sun; Shin, Eun Soon; Choi, Seung Ho; Bae, Jung Ho.

In: Scientific Reports, Vol. 9, No. 1, 7360, 14.05.2019, p. 7360.

Research output: Contribution to journalArticleResearchpeer-review

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T1 - Genome-wide association study of right-sided colonic diverticulosis in a Korean population

AU - Choe, Eun Kyung

AU - Lee, Jong Eun

AU - Chung, Su Jin

AU - Yang, Sun Young

AU - Kim, Young Sun

AU - Shin, Eun Soon

AU - Choi, Seung Ho

AU - Bae, Jung Ho

PY - 2019/5/14

Y1 - 2019/5/14

N2 - Diverticulosis results from complex interactions related to aging, environmental factors and genetic predisposition. Despite epidemiologic evidence of genetic risk factors, there has been no attempt to identify genes that confer susceptibility to colonic diverticulosis. We performed the first genome-wide association study (GWAS) on susceptibility to diverticulosis in a Korean population. A GWAS was carried out in 7,948 healthy individuals: 893 patients and 1,075 controls comprised the test set, and 346 patients and 305 controls comprised the replication set. Diverticulosis was diagnosed by colonoscopy during comprehensive medical check-ups, and single-nucleotide polymorphisms (SNPs) related to diverticulosis were detected with the Affymetrix Axiom KORV1.1-96 Array. In all, 9 SNPs were identified in three SNP aggregates in the test set (P < 10 −3 , within 200 kb) after adjusting for sex. All the SNPs were replicated in the replication set (P < 0.05). Three SNPs were near the WNT4 gene, four near the RHOU gene, and two in the OAS1/3 genes. The top SNP associated with right-sided colonic diverticulosis was rs22538787, located near the WNT4 gene [combined set, P-value = 3.128 × 10 −6 , odds ratio = 1.415 (95% confidence interval: 1.223–1.637)]. These 9 novel SNP alleles associated with the WNT4, RHOU, and OAS1/3 genes are possibly involved in the underlying genetic susceptibility to right-sided diverticulosis. Our results provide basic knowledge about the development of diverticulosis in an Asian population.

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DO - 10.1038/s41598-019-43692-8

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JO - Scientific reports

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