Association of the Y402H polymorphism in complement factor H gene and neovascular age-related macular degeneration in Chinese patients

Ling Ing Lau, Shih Jen Chen, Ching Yu Cheng, May Yung Yen, Fenq Lih Lee, Ming Wei Lin, Wen-Ming Hsu, Yau Huei Wei

Research output: Contribution to journalArticle

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Abstract

PURPOSE. Age-related macular degeneration (AMD), with its complex traits and multiple risk factors, is the leading cause of blindness in the elderly. A strong association between a coding variant, Y402H, in the complement factor H gene (CFH) and AMD has been recently identified in white patients. This study was conducted to investigate the association between the Y402H polymorphism in CFH and neovascular AMD in Chinese patients. METHODS. One hundred sixty-three Chinese patients with neovascular AMD and 232 age-matched healthy controls were enrolled in the study. Genomic DNA from white blood cells was extracted. The Y402H polymorphism in CFH, with the substitution of T to C at nucleotide position 1277 in exon 9, was determined by polymerase chain reaction-restriction fragment length polymorphism analysis. The association between the genetic polymorphism and the disease was examined by χ2 test and logistic regression. RESULTS. The frequency of the risk allele, 1277C, was 11.3% in AMD patients compared with 2.8% in controls (P < 0.00001). Genotype frequency differed significantly between the two groups (1277TT 81.0%, 1277TC 15.3%, and 1277CC 3.7% in the AMD group; 1277TT 94.4%, 1277TC 5.6%, and 1277CC 0% in the control group; P < 0.0001). The 1277C allele significantly increased the risk for neovascular AMD and had an odds ratio of 4.4 (95% confidence interval [95% CI], 2.3- 8.5; P < 0.00001). CONCLUSIONS. The allele frequency of Y402H polymorphism in CFH has an ethnic variation, with much lower 1277C frequency in Chinese than in white patients. Despite this, the polymorphism is significantly associated with neovascular AMD in the Chinese population.

Original languageEnglish
Pages (from-to)3242-3246
Number of pages5
JournalInvestigative Ophthalmology and Visual Science
Volume47
Issue number8
DOIs
Publication statusPublished - Aug 1 2006
Externally publishedYes

Fingerprint

Complement Factor H
Macular Degeneration
Genes
Gene Frequency
Inborn Genetic Diseases
Genetic Polymorphisms
Blindness
Restriction Fragment Length Polymorphisms
Exons
Leukocytes
Nucleotides
Logistic Models
Alleles
Odds Ratio
Genotype
Confidence Intervals
Polymerase Chain Reaction
Control Groups
DNA

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

Cite this

Association of the Y402H polymorphism in complement factor H gene and neovascular age-related macular degeneration in Chinese patients. / Lau, Ling Ing; Chen, Shih Jen; Cheng, Ching Yu; Yen, May Yung; Lee, Fenq Lih; Lin, Ming Wei; Hsu, Wen-Ming; Wei, Yau Huei.

In: Investigative Ophthalmology and Visual Science, Vol. 47, No. 8, 01.08.2006, p. 3242-3246.

Research output: Contribution to journalArticle

Lau, Ling Ing ; Chen, Shih Jen ; Cheng, Ching Yu ; Yen, May Yung ; Lee, Fenq Lih ; Lin, Ming Wei ; Hsu, Wen-Ming ; Wei, Yau Huei. / Association of the Y402H polymorphism in complement factor H gene and neovascular age-related macular degeneration in Chinese patients. In: Investigative Ophthalmology and Visual Science. 2006 ; Vol. 47, No. 8. pp. 3242-3246.
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title = "Association of the Y402H polymorphism in complement factor H gene and neovascular age-related macular degeneration in Chinese patients",
abstract = "PURPOSE. Age-related macular degeneration (AMD), with its complex traits and multiple risk factors, is the leading cause of blindness in the elderly. A strong association between a coding variant, Y402H, in the complement factor H gene (CFH) and AMD has been recently identified in white patients. This study was conducted to investigate the association between the Y402H polymorphism in CFH and neovascular AMD in Chinese patients. METHODS. One hundred sixty-three Chinese patients with neovascular AMD and 232 age-matched healthy controls were enrolled in the study. Genomic DNA from white blood cells was extracted. The Y402H polymorphism in CFH, with the substitution of T to C at nucleotide position 1277 in exon 9, was determined by polymerase chain reaction-restriction fragment length polymorphism analysis. The association between the genetic polymorphism and the disease was examined by χ2 test and logistic regression. RESULTS. The frequency of the risk allele, 1277C, was 11.3{\%} in AMD patients compared with 2.8{\%} in controls (P < 0.00001). Genotype frequency differed significantly between the two groups (1277TT 81.0{\%}, 1277TC 15.3{\%}, and 1277CC 3.7{\%} in the AMD group; 1277TT 94.4{\%}, 1277TC 5.6{\%}, and 1277CC 0{\%} in the control group; P < 0.0001). The 1277C allele significantly increased the risk for neovascular AMD and had an odds ratio of 4.4 (95{\%} confidence interval [95{\%} CI], 2.3- 8.5; P < 0.00001). CONCLUSIONS. The allele frequency of Y402H polymorphism in CFH has an ethnic variation, with much lower 1277C frequency in Chinese than in white patients. Despite this, the polymorphism is significantly associated with neovascular AMD in the Chinese population.",
author = "Lau, {Ling Ing} and Chen, {Shih Jen} and Cheng, {Ching Yu} and Yen, {May Yung} and Lee, {Fenq Lih} and Lin, {Ming Wei} and Wen-Ming Hsu and Wei, {Yau Huei}",
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T1 - Association of the Y402H polymorphism in complement factor H gene and neovascular age-related macular degeneration in Chinese patients

AU - Lau, Ling Ing

AU - Chen, Shih Jen

AU - Cheng, Ching Yu

AU - Yen, May Yung

AU - Lee, Fenq Lih

AU - Lin, Ming Wei

AU - Hsu, Wen-Ming

AU - Wei, Yau Huei

PY - 2006/8/1

Y1 - 2006/8/1

N2 - PURPOSE. Age-related macular degeneration (AMD), with its complex traits and multiple risk factors, is the leading cause of blindness in the elderly. A strong association between a coding variant, Y402H, in the complement factor H gene (CFH) and AMD has been recently identified in white patients. This study was conducted to investigate the association between the Y402H polymorphism in CFH and neovascular AMD in Chinese patients. METHODS. One hundred sixty-three Chinese patients with neovascular AMD and 232 age-matched healthy controls were enrolled in the study. Genomic DNA from white blood cells was extracted. The Y402H polymorphism in CFH, with the substitution of T to C at nucleotide position 1277 in exon 9, was determined by polymerase chain reaction-restriction fragment length polymorphism analysis. The association between the genetic polymorphism and the disease was examined by χ2 test and logistic regression. RESULTS. The frequency of the risk allele, 1277C, was 11.3% in AMD patients compared with 2.8% in controls (P < 0.00001). Genotype frequency differed significantly between the two groups (1277TT 81.0%, 1277TC 15.3%, and 1277CC 3.7% in the AMD group; 1277TT 94.4%, 1277TC 5.6%, and 1277CC 0% in the control group; P < 0.0001). The 1277C allele significantly increased the risk for neovascular AMD and had an odds ratio of 4.4 (95% confidence interval [95% CI], 2.3- 8.5; P < 0.00001). CONCLUSIONS. The allele frequency of Y402H polymorphism in CFH has an ethnic variation, with much lower 1277C frequency in Chinese than in white patients. Despite this, the polymorphism is significantly associated with neovascular AMD in the Chinese population.

AB - PURPOSE. Age-related macular degeneration (AMD), with its complex traits and multiple risk factors, is the leading cause of blindness in the elderly. A strong association between a coding variant, Y402H, in the complement factor H gene (CFH) and AMD has been recently identified in white patients. This study was conducted to investigate the association between the Y402H polymorphism in CFH and neovascular AMD in Chinese patients. METHODS. One hundred sixty-three Chinese patients with neovascular AMD and 232 age-matched healthy controls were enrolled in the study. Genomic DNA from white blood cells was extracted. The Y402H polymorphism in CFH, with the substitution of T to C at nucleotide position 1277 in exon 9, was determined by polymerase chain reaction-restriction fragment length polymorphism analysis. The association between the genetic polymorphism and the disease was examined by χ2 test and logistic regression. RESULTS. The frequency of the risk allele, 1277C, was 11.3% in AMD patients compared with 2.8% in controls (P < 0.00001). Genotype frequency differed significantly between the two groups (1277TT 81.0%, 1277TC 15.3%, and 1277CC 3.7% in the AMD group; 1277TT 94.4%, 1277TC 5.6%, and 1277CC 0% in the control group; P < 0.0001). The 1277C allele significantly increased the risk for neovascular AMD and had an odds ratio of 4.4 (95% confidence interval [95% CI], 2.3- 8.5; P < 0.00001). CONCLUSIONS. The allele frequency of Y402H polymorphism in CFH has an ethnic variation, with much lower 1277C frequency in Chinese than in white patients. Despite this, the polymorphism is significantly associated with neovascular AMD in the Chinese population.

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