Analysis of single nucleotide polymorphisms in the region of CLDN2-MORC4 in relation to inflammatory bowel disease

doi:10.3748/wjg.v19.i30.4935

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Aug 14, 2013 (publication date) through Apr 24, 2024

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World Journal of Gastroenterology

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1007-9327

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Gastroenterol. Aug 14, 2013; 19(30): 4935-4943
Published online Aug 14, 2013. doi: 10.3748/wjg.v19.i30.4935

Table 6 Sequence variants identified by resequencing of selected gene regions

Gene¹	Position of SNP	rs-number	Part of gene/predicted consequence	VAF/control²	VAF/patients²
CLDN2	c.-178-678C>G (g.29466911)	rs62605981	Intron/5’ gene flanking region³	0.175	0.139
	c.-178-104_-103delAT (g.29467485_29467486delAT)	rs72466477	Intron/5’ gene flanking region³	0.175	0.083

¹The following reference sequences have been used for claudin (CLDN)2 NT_011651.16 (genomic) and NM_020384.2 (mRNA);

²Variant allele frequencies (VAF) are defined with respect to the corresponding reference sequence;

³The intronic region of CLDN2, according to the CLDN2 reference mRNA (NM_020384), correspond to the promoter region described by Sakaguchi et al[34]. SNP: Single nucleotide polymorphism.

Citation: Söderman J, Norén E, Christiansson M, Bragde H, Thiébaut R, Hugot JP, Tysk C, O’Morain CA, Gassull M, Finkel Y, Colombel JF, Lémann M, Almer S. Analysis of single nucleotide polymorphisms in the region of CLDN2-MORC4 in relation to inflammatory bowel disease. World J Gastroenterol 2013; 19(30): 4935-4943
URL: https://www.wjgnet.com/1007-9327/full/v19/i30/4935.htm
DOI: https://dx.doi.org/10.3748/wjg.v19.i30.4935