著者

Mukai Saki Hidaka Yoshihiko Hirota-Kawadobora Masako Matsuda Kazuyuki Fujihara Noriko Takezawa Yuka Kubota Seiko Koike Kenichi Honda Takayuki Yamauchi Kazuyoshi

出版者

Elsevier

雑誌

Molecular immunology (ISSN:01615890)

巻号頁・発行日

vol.49, no.1-2, pp.48-55, 2011-10

被引用文献数

8 1

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Mutations and polymorphisms of factor H gene (FH1) are known to be closely involved in the developmentof atypical hemolytic uremic syndrome (aHUS). Several groups have identified disease risk mutations andpolymorphisms of FH1 for the development of aHUS, and have investigated frequencies of aHUS in a numberof ethnic groups. However, such studies on Japanese populations are limited. In the present study,we analyzed FH1 in Japanese aHUS patients and healthy volunteers, and examined whether those variantsimpacted on a tendency for the development of aHUS in Japanese populations. Similar to previousstudies, we found that a high frequency of FH1 mutations, located in exon 23 of FH1, encodes short consensusrepeat 20 in C-terminal end of factor H molecule in patients with aHUS (40%), but not in healthyvolunteers. Interestingly, no significant differences in frequency of well-known disease risk polymorphismsfor aHUS were observed between healthy volunteers and aHUS patients. Our results suggestedthat although FH1 mutations relates to the development of Japanese aHUS in accordance with other ethnicstudies, other factor may be required for factor H polymorphism to be a risk factor of Japanese aHUS.