@article{oai:tsukuba.repo.nii.ac.jp:00026025,
 author = {山内, 一由 and Mukai, Saki and Hidaka, Yoshihiko and Hirota-Kawadobora, Masako and Matsuda, Kazuyuki and Fujihara, Noriko and Takezawa, Yuka and Kubota, Seiko and Koike, Kenichi and Honda, Takayuki and Yamauchi, Kazuyoshi},
 issue = {1-2},
 journal = {Molecular immunology},
 month = {Oct},
 note = {Mutations and polymorphisms of factor H gene (FH1) are known to be closely involved in the development
of atypical hemolytic uremic syndrome (aHUS). Several groups have identified disease risk mutations and
polymorphisms of FH1 for the development of aHUS, and have investigated frequencies of aHUS in a number
of 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 variants
impacted on a tendency for the development of aHUS in Japanese populations. Similar to previous
studies, we found that a high frequency of FH1 mutations, located in exon 23 of FH1, encodes short consensus
repeat 20 in C-terminal end of factor H molecule in patients with aHUS (40%), but not in healthy
volunteers. Interestingly, no significant differences in frequency of well-known disease risk polymorphisms
for aHUS were observed between healthy volunteers and aHUS patients. Our results suggested
that although FH1 mutations relates to the development of Japanese aHUS in accordance with other ethnic
studies, other factor may be required for factor H polymorphism to be a risk factor of Japanese aHUS.},
 pages = {48--55},
 title = {Factor H gene variants in Japanese: Its relation to atypical hemolytic uremic syndrome},
 volume = {49},
 year = {2011}
}