No Association of Complement Factor H Gene Polymorphism and Age-Related Macular Degeneration in the Japanese Population

Uka, Junko; Tamura, Hisashi; Kobayashi, Takayuki; Yamane, Kunio; Kawakami, Hideshi; Minamoto, Atsushi; Mishima, Hiromu K.

doi:10.1097/01.iae.0000244068.18520.3e

Cited by 59 publications

(32 citation statements)

References 14 publications

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“…Magnusson et al (2006) have demonstrated that the CFH variant confers a similar risk of soft drusen and advanced forms of AMD, and has hypothesized that the CFH variant is a major risk factor for soft drusen formation, but that additional genetic and/or environmental factors may be required for progression to neovascular AMD. The results of our and other studies (Okamoto et al 2006;Gotoh et al 2006;Uka et al 2006;Fuse et al 2006) in the Japanese population may correlate with Japanese AMD characteristics of a comparatively low incidence of soft drusen and a greater prevalence of wet AMD, and support the hypothesis proposed by Magnusson et al (2006), DeWan et al (2006), and Yang et al (2006). In summary, this study indicates that the rs11200638 variant in the HTRA1 gene is strongly associated with AMD in an ancestrally and geographically distinct population, as is represented by the Japanese population.…”

Section: Discussionsupporting

confidence: 78%

“…The purpose of this study is to confirm the association between this novel SNP rs11200638 in the HTRA1 gene and AMD in the Japanese population, as ethnic variation has been reported in AMD-associated Y402H variant and also in other diseases (Okamoto et al 2006;Gotoh et al 2006;Grassi et al 2006;Lau et al 2006;Uka et al 2006;Fuse et al 2006;Chen et al 2006;Mori et al 2005). In addition, an important question is whether the HTRA1 variant and smoking are independent risk factors, and investigating this was the second objective of the present study.…”

Section: Introductionmentioning

confidence: 92%

“…Grassi et al (2006) (Okamoto et al 2006;Gotoh et al 2006;Uka et al 2006;Fuse et al 2006). Although there remains a great deal to learn relating to CFH variants in the Chinese population, it appears that they more closely resemble CFH variants in a Japanese population than a Western Caucasian population (Lau et al 2006;Chen et al 2006).…”

Section: Discussionmentioning

confidence: 99%

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Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population

et al. 2007

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The purpose of this investigation was to determine whether the high-temperature requirement A-1 (HTRA1) gene polymorphism is associated with age-related macular degeneration (AMD) in native, unrelated Japanese patients. A total of 123 patients with AMD and 133 control subjects without AMD were recruited for this study. The single-nucleotide polymorphism (SNP) rs11200638 in the HTRA1 gene was assessed using a TaqMan assay. The risk A allele frequencies in the AMD cases and control patients were 0.577 and 0.380, respectively, and were associated with a significant risk of developing AMD (p=7.75·10 -6 ). The results were more significant in subtype analyses with wet AMD (p=5.96·10 -7 ). We conclude that the rs11200638 variant in the HTRA1 gene is strongly associated with AMD in the Japanese population. This result supports the hypothesis that the HTRA1 gene may increase susceptibility to AMD development and can participate in a potential new molecular pathway for AMD pathogenesis by extending this association across diverse ethnicities.

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Section: Discussionsupporting

confidence: 78%

Section: Introductionmentioning

confidence: 92%

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Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population

et al. 2007

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“…The Y402H SNP of CFH as a genetic risk factor for AMD is not consistently replicated in some case-control studies in the Asian population [62,63,64,65,66,67,68,69,70,71,72]. This lack of a consistent association could be explained by the lower MAF in this population compared with Caucasian populations.…”

Section: Genetic Factors Associated With Amdmentioning

confidence: 58%

Genetic Factors Associated with Age-Related Macular Degeneration

et al. 2011

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“…Ethnic differences in disease-susceptible genomic alterations have also been shown for the CFH-related phenotypes [24,25]. While the C allele frequency varies between 0.30 and 0.39% in different Caucasian populations, its frequency is 0.11% for Japanese people [24,29]. We found the C allele frequency to be 0.35% in our Turkish population (Table 1).…”

Section: Balkan Journal Of Medical Geneticsmentioning

confidence: 61%

Complement Factor H Y403H Polymorphism in the Turkish Population

Arıkan

Bilgen

Keser

2010

Balkan Journal of Medical Genetics

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Complement factor H (CFH) is an important regulator protein of the alternative pathway of the complement system. The CFH mutations and polymorphisms in CFH have been associated with diseases of the kidney and eye. We investigated the allelic frequency of the most common CFH polymorphism, c.1277 T>C (Y402H), in 100 healthy Turkish volunteers from the Antalya Province by direct sequencing of the corresponding genomic region. We found a frequency of 0.65% for the T and 0.35% for the C alleles. The frequency of the TT, CT and CC genotypes was 0.40, 0.49 and 0.11% respectively. Thus, the disease-related C allele has a frequency in Turkey similar to that of Caucasian populations.

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No Association of Complement Factor H Gene Polymorphism and Age-Related Macular Degeneration in the Japanese Population

Cited by 59 publications

References 14 publications

Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population

Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population

Genetic Factors Associated with Age-Related Macular Degeneration

Complement Factor H Y403H Polymorphism in the Turkish Population

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