@article{oai:kanazawa-u.repo.nii.ac.jp:00031006,
 author = {Munesue, Toshio and Yokoyama, Shigeru and Nakamura, Kazuhiko and Anitha, Ayyappan and Yamada, Kazuo and Hayashi, Kenshi and Asaka, Tomoya and Liu, Hong-Xiang and Jin, Duo and Koizumi, Keita and Islam, Mohammad Saharul and Huang, Jian-Jun and Ma, Wen-Jie and Kim, Uh-Hyun and Kim, Sun-Jun and Park, Keunwan and Kim, Dongsup and Kikuchi, Mitsuru and Ono, Yasuki and Nakatani, Hideo and Suda, Shiro and Miyachi, Taishi and Hirai, Hirokazu and Salmina, Alla and Pichugina, Yu A. and Soumarokov, Andrei A. and Takei, Nori and Mori, Norio and Tsujii, Masatsugu and Sugiyama, Toshiro and Yagi, Kunimasa and Yamagishi, Masakazu and Sasaki, Tsukasa and Yamasue, Hidenori and Kato, Nobumasa and Hashimoto, Ryota and Taniike, Masako and Hayashi, Yutaka and Hamada, Jun-ichiro and Suzuki, Shioto and Ooi, Akishi and Noda, Mami and Kamiyama, Yuko and Kido, Mizuho A. and Lopatina, Olga and Hashii, Minako and Amina, Sarwat and Malavasi, Fabio and Huang, Eric J. and Zhang, Jiasheng and Shimizu, Nobuaki and Yoshikawa, Takeo and Matsushima, Akihiro and Minabe, Yoshio and Higashida, Haruhiro},
 issue = {2},
 journal = {Neuroscience Research},
 month = {Jun},
 note = {The neurobiological basis of autism spectrum disorder (ASD) remains poorly understood. Given the role of CD38 in social recognition through oxytocin (OT) release, we hypothesized that CD38 may play a role in the etiology of ASD. Here, we first examined the immunohistochemical expression of CD38 in the hypothalamus of post-mortem brains of non-ASD subjects and found that CD38 was colocalized with OT in secretory neurons. In studies of the association between CD38 and autism, we analyzed 10 single nucleotide polymorphisms (SNPs) and mutations of CD38 by re-sequencing DNAs mainly from a case-control study in Japan, and Caucasian cases mainly recruited to the Autism Genetic Resource Exchange (AGRE). The SNPs of CD38, rs6449197 (p< 0.040) and rs3796863 (p< 0.005) showed significant associations with a subset of ASD (IQ > 70; designated as high-functioning autism (HFA)) in the U.S. 104 AGRE family trios, but not with Japanese 188 HFA subjects. A mutation that caused tryptophan to replace arginine at amino acid residue 140 (R140W; (rs1800561, 4693C>T)) was found in 0.6-4.6% of the Japanese population and was associated with ASD in the smaller case-control study. The SNP was clustered in pedigrees in which the fathers and brothers of T-allele-carrier probands had ASD or ASD traits. In this cohort OT plasma levels were lower in subjects with the T allele than in those without. One proband with the T allele who was taking nasal OT spray showed relief of symptoms. The two variant CD38 poloymorphysms tested may be of interest with regard of the pathophysiology of ASD. © 2010 Elsevier Ireland Ltd and the Japan Neuroscience Society., 金沢大学医薬保健研究域医学系},
 pages = {181--191},
 title = {Two genetic variants of CD38 in subjects with autism spectrum disorder and controls},
 volume = {67},
 year = {2010}
}