A novel splicing variant of CADM2 as a protective transcript of psoriasis
2011
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
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.
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