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

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• 作者：Azusa Hiruma^a ; Shigaku Ikeda^b ; Tadashi Terui^c ; Maki Ozawa^d ; Takashi Hashimoto^e ; Shinichiro Yasumoto^f ; Juichiro Nakayama^g ; Yumiko Kubota^h ; Masafumi Iijimaⁱ ; Hirohiko Sueki^j ; Yoshinari Matsumoto^k ; Masayuki Kato^a ; Emiko Akasaka^a ; Norihiro Ikoma^a ; Tomotaka Mabuchi^a ; Shiho Tamiya^a ; Takashi Matsuyama^a ; Akira Ozawa^a ; Hidetoshi Inoko^l ; Akira Oka^m ;   ; ^{oka246@is.icc.u-tokai.ac.jp}
• 关键词：Psoriasis ; GWAS ; CADM2 ; Haplotype
• 刊名：Biochemical and Biophysical Research Communications
• 出版年：2011
• 出版时间：9 September 2011
• 年：2011
• 卷：412
• 期：4
• 页码：626-632
• 全文大小：912 K
• ISSN：S0006291X11013982

文摘

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.