PMID- 18566738
OWN - NLM
STAT- MEDLINE
DCOM- 20081014
LR  - 20211020
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 53
IP  - 8
DP  - 2008
TI  - Association study of the C3 gene with adult and childhood asthma.
PG  - 728-738
LID - 10.1007/s10038-008-0304-0 [doi]
AB  - Bronchial asthma (BA) is a multifactorial disorder, the development of which is 
      affected by both environmental and genetic factors. The complement system plays 
      an important role in immunological response against invading microorganisms. It 
      has been shown that complement-C3-deficient mice have reduced inflammation of 
      asthmatic airways. Previously, we reported the association of four single nuclear 
      proteins (SNPs) in the exons of the C3 gene with childhood and adult BA. The C3 
      gene, however, is a large gene, and functional SNPs associated with 
      susceptibility to BA have not yet been identified. We analyzed 26 SNPs in the C3 
      gene and its promoter region to narrow down the regions showing association with 
      childhood and adult BA. Childhood and adult atopic BA patients and healthy child 
      and adult controls were recruited from urban cities in Japan and genotyped. In 
      SNP analysis, an SNP (SNP24, rs11569562) located in intron 31 of the C3 gene was 
      associated with adult BA [corrected P (Pcor) = 0.030]. In linkage disequilibrium 
      (LD) block 4 spanning exons 24-41, the frequency of the CCC haplotype in adult BA 
      was significantly higher than that in adult controls (Pcor = 0.038). Neither the 
      SNP nor the haplotype showing association with adult BA demonstrated a 
      significant association with serum total immunoglobulin E (IgE) level in BA 
      patients and controls. Our results suggest that LD block 4 confers susceptibility 
      to adult BA with mechanisms relevant to the effector phase of allergic 
      inflammation.
FAU - Inoue, Hiroki
AU  - Inoue H
AD  - Department of Public Health, Graduate School of Medicine, Chiba University, 1-8-1 
      Inohana, Chuo-ku, Chiba, 260-8670, Japan.
FAU - Mashimo, Yoichi
AU  - Mashimo Y
AD  - Department of Public Health, Graduate School of Medicine, Chiba University, 1-8-1 
      Inohana, Chuo-ku, Chiba, 260-8670, Japan.
FAU - Funamizu, Makiko
AU  - Funamizu M
AD  - Department of Public Health, Graduate School of Medicine, Chiba University, 1-8-1 
      Inohana, Chuo-ku, Chiba, 260-8670, Japan.
FAU - Shimojo, Naoki
AU  - Shimojo N
AD  - Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, 
      Japan.
FAU - Hasegawa, Koichi
AU  - Hasegawa K
AD  - Laboratory for Genetics of Allergic Diseases, SNP Research Center, The Institute 
      of Physical and Chemical Research (RIKEN), Yokohama, Japan.
FAU - Hirota, Tomomitsu
AU  - Hirota T
AD  - Laboratory for Genetics of Allergic Diseases, SNP Research Center, The Institute 
      of Physical and Chemical Research (RIKEN), Yokohama, Japan.
FAU - Doi, Satoru
AU  - Doi S
AD  - Department of Pediatrics, Osaka Prefectural Medical Center for Respiratory and 
      Allergic Diseases, Habikino, Japan.
FAU - Kameda, Makoto
AU  - Kameda M
AD  - Department of Pediatrics, Osaka Prefectural Medical Center for Respiratory and 
      Allergic Diseases, Habikino, Japan.
FAU - Miyatake, Akihiko
AU  - Miyatake A
AD  - Miyatake Asthma Clinic, Osaka, Japan.
FAU - Kohno, Yoichi
AU  - Kohno Y
AD  - Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, 
      Japan.
FAU - Okamoto, Yoshitaka
AU  - Okamoto Y
AD  - Department of Otolaryngology, Graduate School of Medicine, Chiba University, 
      Chiba, Japan.
FAU - Tamari, Mayumi
AU  - Tamari M
AD  - Laboratory for Genetics of Allergic Diseases, SNP Research Center, The Institute 
      of Physical and Chemical Research (RIKEN), Yokohama, Japan.
FAU - Hata, Akira
AU  - Hata A
AD  - Department of Public Health, Graduate School of Medicine, Chiba University, 1-8-1 
      Inohana, Chuo-ku, Chiba, 260-8670, Japan.
FAU - Suzuki, Yoichi
AU  - Suzuki Y
AD  - Department of Public Health, Graduate School of Medicine, Chiba University, 1-8-1 
      Inohana, Chuo-ku, Chiba, 260-8670, Japan. ysuzuki@faculty.chiba-u.jp.
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20080620
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (C3 protein, human)
RN  - 0 (Complement C3)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Animals
MH  - Asthma/*genetics/*immunology
MH  - Cattle
MH  - Child
MH  - Child, Preschool
MH  - Complement C3/*genetics
MH  - Dogs
MH  - Female
MH  - Genetic Predisposition to Disease/genetics
MH  - Haplotypes
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Male
MH  - Middle Aged
MH  - Polymorphism, Single Nucleotide
EDAT- 2008/06/21 09:00
MHDA- 2008/10/15 09:00
CRDT- 2008/06/21 09:00
PHST- 2007/11/29 00:00 [received]
PHST- 2008/05/16 00:00 [accepted]
PHST- 2008/06/21 09:00 [pubmed]
PHST- 2008/10/15 09:00 [medline]
PHST- 2008/06/21 09:00 [entrez]
AID - 10.1007/s10038-008-0304-0 [pii]
AID - 10.1007/s10038-008-0304-0 [doi]
PST - ppublish
SO  - J Hum Genet. 2008;53(8):728-738. doi: 10.1007/s10038-008-0304-0. Epub 2008 Jun 
      20.