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    J Hum Genet. 2008;53(11-12):1016-21. doi: 10.1007/s10038-008-0337-4. Epub 2008 Sep 30.

    Molecular basis of complement factor I (CFI) polymorphism: one of two polymorphic suballeles responsible for CFI A is Japanese-specific.

    Yuasa I, Nakagawa M, Umetsu K, Harihara S, Matsusue A, Nishimukai H, Fukumori Y, Saitou N, Park KS, Jin F, Lucotte G, Chattopadhyay PK, Henke L, Henke J.

    Source

    Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago, 683-8503 Japan. yuasai@med.tottori-u.ac.jp

    Abstract

    Isoelectric focusing has revealed that human complement factor I (CFI) is controlled by two polymorphic alleles, CFI(*)A and CFI(*)B, and a few rare variant alleles. In this study the molecular basis of the CFI polymorphism was investigated in 174 Japanese. The CFI(*)A was divided into two suballeles, CFI(*)As (R201S) and CFI(*)Ah (R406H). CFI(*)Aj, a rare variant allele originating from CFI(*)Ah, had an additional mutation (R502L). The distribution of these three mutations and two registered SNPs was investigated in a total of 2,471 individuals in 20 populations from various areas, and six haplotypes were observed. Haplotype H3, which is characterized by CFI(*)As, was found only in Far East populations: the frequencies were about 0.03 in the main island of Japan and lower than 0.01 in Okinawa and Korea. Haplotype H5, characterized by CFI(*)Ah, prevailed almost exclusively in East Asians and was observed at the highest frequencies in southern Chinese Han and Thais. CFI(*)Ah must have arisen in a southeastern part of Asia and thereafter have spread to neighboring populations.

    PMID:
    18825487
    [PubMed - indexed for MEDLINE]

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