A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility

Aditi Gupta; Garima Juyal; Ajit Sood; Vandana Midha; Keiko Yamazaki; Arnau Vich Vila; Motohiro Esaki; Toshiyuki Matsui; Atsushi Takahashi; Michiaki Kubo; Rinse K. Weersma; B. K. Thelma

doi:10.1038/ejhg.2016.131

A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility

Aditi Gupta, Garima Juyal, Ajit Sood, Vandana Midha, Keiko Yamazaki, Arnau Vich Vila, Motohiro Esaki, Toshiyuki Matsui, Atsushi Takahashi, Michiaki Kubo, Rinse K. Weersma, B. K. Thelma^*

^*Corresponding author for this work

Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)

Research output: Contribution to journal › Article › Academic › peer-review

11 Citations (Scopus)

Abstract

The first ever genome-wide association study (GWAS) of ulcerative colitis in genetically distinct north Indian population identified two novel genes namely CFB and SLC44A4. Considering their biological relevance, we investigated allelic/genetic heterogeneity in these genes among ulcerative colitis cohorts of north Indian, Japanese and Dutch origin using high-density ImmunoChip case-control genotype data. Comparative linkage disequilibrium profiling and test of association were performed. Of the 28 CFB SNPs, similar strength of association was observed for rs4151657 (novel ulcerative colitis GWAS SNP) in north Indians (P=1.73 x 10(-10)) and Japanese (P= 2.02 x 10(-12)) but not in the Dutch. Further, a three-marker haplotype was shared between north Indians and Japanese (P

Original language	English
Pages (from-to)	111-122
Number of pages	12
Journal	European Journal of Human Genetics
Volume	25
DOIs	https://doi.org/10.1038/ejhg.2016.131
Publication status	Published - 2017

Keywords

GENOME-WIDE ASSOCIATION
INFLAMMATORY-BOWEL-DISEASE
COMPLEMENT FACTOR-B
CROHNS-DISEASE
RISK LOCI
LINKING POLYMORPHISMS
MACULAR DEGENERATION
NORTH INDIANS
TARGET SITES
GENE

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A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility
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Gupta, A., Juyal, G., Sood, A., Midha, V., Yamazaki, K., Vila, A. V., Esaki, M., Matsui, T., Takahashi, A., Kubo, M., Weersma, R. K., & Thelma, B. K. (2017). A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility. European Journal of Human Genetics, 25, 111-122. https://doi.org/10.1038/ejhg.2016.131

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title = "A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility",

abstract = "The first ever genome-wide association study (GWAS) of ulcerative colitis in genetically distinct north Indian population identified two novel genes namely CFB and SLC44A4. Considering their biological relevance, we investigated allelic/genetic heterogeneity in these genes among ulcerative colitis cohorts of north Indian, Japanese and Dutch origin using high-density ImmunoChip case-control genotype data. Comparative linkage disequilibrium profiling and test of association were performed. Of the 28 CFB SNPs, similar strength of association was observed for rs4151657 (novel ulcerative colitis GWAS SNP) in north Indians (P=1.73 x 10(-10)) and Japanese (P= 2.02 x 10(-12)) but not in the Dutch. Further, a three-marker haplotype was shared between north Indians and Japanese (P",

keywords = "GENOME-WIDE ASSOCIATION, INFLAMMATORY-BOWEL-DISEASE, COMPLEMENT FACTOR-B, CROHNS-DISEASE, RISK LOCI, LINKING POLYMORPHISMS, MACULAR DEGENERATION, NORTH INDIANS, TARGET SITES, GENE",

author = "Aditi Gupta and Garima Juyal and Ajit Sood and Vandana Midha and Keiko Yamazaki and Vila, {Arnau Vich} and Motohiro Esaki and Toshiyuki Matsui and Atsushi Takahashi and Michiaki Kubo and Weersma, {Rinse K.} and Thelma, {B. K.}",

year = "2017",

doi = "10.1038/ejhg.2016.131",

language = "English",

volume = "25",

pages = "111--122",

journal = "European Journal of Human Genetics",

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Gupta, A, Juyal, G, Sood, A, Midha, V, Yamazaki, K, Vila, AV, Esaki, M, Matsui, T, Takahashi, A, Kubo, M, Weersma, RK & Thelma, BK 2017, 'A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility', European Journal of Human Genetics, vol. 25, pp. 111-122. https://doi.org/10.1038/ejhg.2016.131

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AU - Gupta, Aditi

AU - Juyal, Garima

AU - Sood, Ajit

AU - Midha, Vandana

AU - Yamazaki, Keiko

AU - Vila, Arnau Vich

AU - Esaki, Motohiro

AU - Matsui, Toshiyuki

AU - Takahashi, Atsushi

AU - Kubo, Michiaki

AU - Weersma, Rinse K.

AU - Thelma, B. K.

PY - 2017

Y1 - 2017

N2 - The first ever genome-wide association study (GWAS) of ulcerative colitis in genetically distinct north Indian population identified two novel genes namely CFB and SLC44A4. Considering their biological relevance, we investigated allelic/genetic heterogeneity in these genes among ulcerative colitis cohorts of north Indian, Japanese and Dutch origin using high-density ImmunoChip case-control genotype data. Comparative linkage disequilibrium profiling and test of association were performed. Of the 28 CFB SNPs, similar strength of association was observed for rs4151657 (novel ulcerative colitis GWAS SNP) in north Indians (P=1.73 x 10(-10)) and Japanese (P= 2.02 x 10(-12)) but not in the Dutch. Further, a three-marker haplotype was shared between north Indians and Japanese (P

AB - The first ever genome-wide association study (GWAS) of ulcerative colitis in genetically distinct north Indian population identified two novel genes namely CFB and SLC44A4. Considering their biological relevance, we investigated allelic/genetic heterogeneity in these genes among ulcerative colitis cohorts of north Indian, Japanese and Dutch origin using high-density ImmunoChip case-control genotype data. Comparative linkage disequilibrium profiling and test of association were performed. Of the 28 CFB SNPs, similar strength of association was observed for rs4151657 (novel ulcerative colitis GWAS SNP) in north Indians (P=1.73 x 10(-10)) and Japanese (P= 2.02 x 10(-12)) but not in the Dutch. Further, a three-marker haplotype was shared between north Indians and Japanese (P

KW - GENOME-WIDE ASSOCIATION

KW - INFLAMMATORY-BOWEL-DISEASE

KW - COMPLEMENT FACTOR-B

KW - CROHNS-DISEASE

KW - RISK LOCI

KW - LINKING POLYMORPHISMS

KW - MACULAR DEGENERATION

KW - NORTH INDIANS

KW - TARGET SITES

KW - GENE

U2 - 10.1038/ejhg.2016.131

DO - 10.1038/ejhg.2016.131

M3 - Article

C2 - 27759029

SN - 1018-4813

VL - 25

SP - 111

EP - 122

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -

A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility

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Keywords

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