Academic Journal
Multiple Gene Polymorphisms in the Complement Factor H Gene Are Associated with Exudative Age-Related Macular Degeneration in Chinese
| العنوان: | Multiple Gene Polymorphisms in the Complement Factor H Gene Are Associated with Exudative Age-Related Macular Degeneration in Chinese |
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| المؤلفون: | Tsz Kin Ng, Jia Li, Chen, David T L Liu, Pancy O S Tam, Wai Man Chan, Ke Liu, Yi Jun Hu, Kelvin K L Chong, Charles S L Lau, Sylvia W Y Chiang, Dennis S C Lam, Chi Pui Pang |
| المساهمون: | The Pennsylvania State University CiteSeerX Archives |
| المصدر: | http://iovs.arvojournals.org/data/Journals/IOVS/932954/z7g00808003312.pdf. |
| المجموعة: | CiteSeerX |
| الوصف: | PURPOSE. Variants in the complement factor H (CFH) gene have been shown to be strongly associated with age-related macular degeneration (AMD). In this study, sequence alterations in CFH were investigated in 163 Chinese patients with exudative AMD and 155 unrelated Chinese control subjects. METHODS. All the 22 CFH exons, intron-exon boundaries, and promoter sequences were screened by polymerase chain reaction and DNA sequencing. RESULTS. Fifty-eight sequence changes, 42 of them novel, were identified. Six SNPs with an allele frequency Ͼ30% were significantly associated with exudative AMD. SNP rs3753396 was novel; the rest had been reported: rs3753394, rs551397, rs800292, rs2274700, and rs1329428. Two haplotype blocks were constructed. The TG haplotype for rs551397 and rs800292 was the major haplotype that conferred a significantly increased susceptibility to exudative AMD (P corr ϭ 0.0001, OR ϭ 1.91, 95% CI ϭ 1.36 -2.68). CONCLUSIONS. The findings support prior evidence that the CFH gene is one of the AMD-associated genes. There is a different distribution pattern of CFH variants in the Chinese compared with other populations. Individual SNP and haplotype analyses revealed that the ancient alleles at the 5Ј end of CFH contribute to an increased susceptibility to exudative AMD. (Invest Ophthalmol Vis Sci. 2008;49:3312-3317) DOI:10.1167/iovs.07-1517 A ge-related macular degeneration (AMD; MIM 603075; Mendelian Inheritance in Man) is a major cause of irreversible visual impairment and blindness in people older than 65 years in developed countries. 1,2 The occurrence of AMD is pan ethnic, and a high prevalence AMD has been reported in the elderly Chinese population. 5 Therefore, a greater understanding of the primary pathophysiology is needed to advance treatment and preventive measures. The etiology of AMD is complex and multifactorial, probably resulting from interactions between environmental and multigenetic factors. 6 Genetic association studies have revealed that single nucleotide polymorphisms (SNPs) in the ... |
| نوع الوثيقة: | text |
| وصف الملف: | application/pdf |
| اللغة: | English |
| Relation: | http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1049.6363; http://iovs.arvojournals.org/data/Journals/IOVS/932954/z7g00808003312.pdf |
| الاتاحة: | http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1049.6363 http://iovs.arvojournals.org/data/Journals/IOVS/932954/z7g00808003312.pdf |
| Rights: | Metadata may be used without restrictions as long as the oai identifier remains attached to it. |
| رقم الانضمام: | edsbas.7754E0AD |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |