A novel splicing variant of CADM2 as a protective transcript of psoriasis

► CADM2 gene(a cell adhesion molecule) is identified as a candidate gene for psoriasis. ► The SNP typing finds a 110-kb haplotype block for the protective risk of psoriasis. ► Novel initial exons of the gene are discovered in the haplotype block. ► The expression of the gene is significantly correla...

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Bibliographic Details
Published in:Biochemical and biophysical research communications 2011-09, Vol.412 (4), p.626-632
Main Authors: Hiruma, Azusa, Ikeda, Shigaku, Terui, Tadashi, Ozawa, Maki, Hashimoto, Takashi, Yasumoto, Shinichiro, Nakayama, Juichiro, Kubota, Yumiko, Iijima, Masafumi, Sueki, Hirohiko, Matsumoto, Yoshinari, Kato, Masayuki, Akasaka, Emiko, Ikoma, Norihiro, Mabuchi, Tomotaka, Tamiya, Shiho, Matsuyama, Takashi, Ozawa, Akira, Inoko, Hidetoshi, Oka, Akira
Format: Article
Language:English
Subjects:
Alleles
Alternative Splicing
Amino Acid Sequence
Blood
CADM2
Cell Adhesion Molecules - genetics
Chromosomes, Human, Pair 3 - genetics
Ethnic groups
Exons
Genetic Predisposition to Disease
Genome-Wide Association Study
GWAS
Haplotype
Haplotypes
Humans
Microsatellites
Molecular Sequence Data
Psoriasis
Psoriasis - genetics
Replication
Single-nucleotide polymorphism
Skin
Splicing
Transcription
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Summary:► CADM2 gene(a cell adhesion molecule) is identified as a candidate gene for psoriasis. ► The SNP typing finds a 110-kb haplotype block for the protective risk of psoriasis. ► Novel initial exons of the gene are discovered in the haplotype block. ► The expression of the gene is significantly correlated with the risk allele. CADM2, a candidate gene for psoriasis, was identified by a genome-wide association study using microsatellites in the Japanese population (561 cases and 561 controls). Moreover, haplotype analysis included an additional 68 SNPs and indicated that a 110-kb haplotype block was detected for the protective risk haplotype of psoriasis. We also identified an initial exon of novel splicing variants in this haplotype block. A functional analysis by qRT-PCR using RNAs from the blood of 56 cases and 64 controls significantly demonstrated an inverse correlation between expression frequencies in a novel splicing variant and the number of alleles associated with psoriasis. To confirm these results, we must perform replication studies using other ethnic groups and more functional analysis particularly for skin tissues.
ISSN:0006-291X
1090-2104
DOI:10.1016/j.bbrc.2011.08.013