PMID- 18515590
OWN - NLM
STAT- MEDLINE
DCOM- 20080718
LR  - 20231213
IS  - 0146-0404 (Print)
IS  - 0146-0404 (Linking)
VI  - 49
IP  - 6
DP  - 2008 Jun
TI  - Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese 
      patients with polypoidal choroidal vasculopathy.
PG  - 2613-9
LID - 10.1167/iovs.07-0860 [doi]
AB  - PURPOSE: Polypoidal choroidal vasculopathy (PCV) is a major cause of 
      serosanguinous maculopathy in Chinese patients with age-related macular 
      degeneration (AMD). Variants in the CFH and HTRA1/LOC387715 genes are strongly 
      associated with AMD in Caucasians and Chinese. Variants in the C2 and BF genes 
      have been found to confer a significantly reduced risk of AMD. This study was 
      undertaken to determine whether these associations occur in Chinese patients with 
      PCV. METHODS: Patients of Chinese ethnicity with clinically and angiographically 
      diagnosed PCV and normal control subjects were recruited from the Singapore 
      National Eye Centre. Five single-nucleotide polymorphisms (SNPs) in the CFH gene, 
      two each within the C2 and BF genes and two variants located in the LOC387715 and 
      HTRA1 genes, were screened in all patients and control subjects. RESULTS: 
      Seventy-two patients with PCV and 93 normal control subjects were studied. A 
      significant association was noted with CFH variants rs3753394 and rs800292 among 
      the PCV cases (P = 0.0015 and P = 0.0045, respectively). Individuals homozygous 
      for the TT genotype of rs3753394 had a significantly higher risk (P = 0.0076) of 
      PCV (OR = 4.29; 95% CI: 1.47-12.50) than those carrying a single copy of the T 
      allele (P = 0.3210; OR = 1.69; 95% CI: 0.60-4.78), after adjustment for such risk 
      factors as age and sex. The genotype frequencies of rs11200638 and rs10490924 in 
      HTRA1 and LOC387715, respectively, were also found to be significantly different 
      between patients with PCV and normal control subjects (P = 0.00032 and P = 0.003, 
      respectively). The AA genotype of rs11200638 and TT genotype of rs10490924 
      conferred a 4.9-fold (95% CI: 1.85-12.95) and 4.89-fold (95% CI: 1.85-12.90) 
      increased risk of PCV, respectively, after adjustment for age and sex. The Y402H 
      variant of CFH (rs1061170) and the BF and C2 variants were not significantly 
      different in patients and normal control subjects. CONCLUSIONS: The SNPs 
      rs3753394 and rs800292 of CFH and rs11200638 of HTRA1 are significantly 
      associated with the risk of PCV in Chinese patients.
FAU - Lee, Kelvin Y
AU  - Lee KY
AD  - Singapore National Eye Centre, Singapore.
FAU - Vithana, Eranga N
AU  - Vithana EN
FAU - Mathur, Ranjana
AU  - Mathur R
FAU - Yong, Victor H
AU  - Yong VH
FAU - Yeo, Ian Y
AU  - Yeo IY
FAU - Thalamuthu, Anbupalam
AU  - Thalamuthu A
FAU - Lee, Mun-Wai
AU  - Lee MW
FAU - Koh, Adrian H
AU  - Koh AH
FAU - Lim, Marcus C
AU  - Lim MC
FAU - How, Alicia C
AU  - How AC
FAU - Wong, Doric W
AU  - Wong DW
FAU - Aung, Tin
AU  - Aung T
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (CFH protein, human)
RN  - 0 (Complement C2)
RN  - 80295-65-4 (Complement Factor H)
RN  - EC 3.4.21.- (High-Temperature Requirement A Serine Peptidase 1)
RN  - EC 3.4.21.- (HTRA1 protein, human)
RN  - EC 3.4.21.- (Serine Endopeptidases)
RN  - EC 3.4.21.47 (Complement Factor B)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Asian People/genetics
MH  - Choroid/blood supply
MH  - Choroid Diseases/*genetics
MH  - Complement C2/*genetics
MH  - Complement Factor B/*genetics
MH  - Complement Factor H/genetics
MH  - Female
MH  - Fluorescein Angiography
MH  - Gene Frequency
MH  - Genotype
MH  - Haplotypes
MH  - High-Temperature Requirement A Serine Peptidase 1
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Macular Degeneration/genetics
MH  - Male
MH  - Middle Aged
MH  - Peripheral Vascular Diseases/*genetics
MH  - Polymerase Chain Reaction
MH  - *Polymorphism, Single Nucleotide
MH  - Risk Factors
MH  - Serine Endopeptidases/*genetics
MH  - Singapore/epidemiology
EDAT- 2008/06/03 09:00
MHDA- 2008/07/19 09:00
CRDT- 2008/06/03 09:00
PHST- 2008/06/03 09:00 [pubmed]
PHST- 2008/07/19 09:00 [medline]
PHST- 2008/06/03 09:00 [entrez]
AID - 49/6/2613 [pii]
AID - 10.1167/iovs.07-0860 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2613-9. doi: 10.1167/iovs.07-0860.