Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population
Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population
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补体因子 H 蛋白中的 p.402Y>H 多态性是意大利人群中年龄相关性黄斑变性的危险因素
DOI：
10.1136/bjo.2006.096487
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发表时间：
2006
影响因子：
4.1
通讯作者：
L. Sacchetti
中科院分区：
文献类型：
--
作者：
F. Simonelli;G. Frisso;F. Testa;R. D. Fiore;D. Vitale;M. Manitto;R. Brancato;E. Rinaldi;L. Sacchetti
目的：探讨补体因子H(CFH)p.402Y和GT；H基因多态性与意大利人群老年性黄斑变性(AMD)的关系。方法：对104例意大利AMD患者和131例正常对照进行CFH基因多态性筛查，发现与AMD相关的基因p.402Y>；H(c.1277T>；C)。对患者和对照组进行视网膜造影术；荧光血管造影术证实了AMD的诊断。采用TaqMan实时定量聚合酶链式反应-单核苷酸多态分析方法对C.1277T>；C多态进行基因分型。结果：AMD组c.1277C等位基因频率高于对照组(57.2%vs39.3%；p<；0.001)。对于CC纯合子，AMD的优势比(OR；Logistic回归分析)为3.9(95%可信区间为1.9~8.2)。CC基因携带者患散发性AMD的风险(OR 4.6；CI：2.0~10.5)高于家族性AMD(OR 2.9；CI：1.0~8.4)。基因分型与AMD的诊断年龄或表型无关。然而，地理萎缩和脉络膜新生血管在散发性AMD中比在家族性AMD中更常见(p = 0.027)。总体而言，CC基因型的人群归因风险百分比为28%(95%可信区间：18%至33%)。结论：P.402Y和GT；H(c.1277T>；C)基因多态与意大利人AMD相关，散发性AMD患者中CC基因频率高于家族性AMD患者。
Aims: To evaluate the complement factor H (CFH) p.402Y>H polymorphism as a risk factor in age related macular degeneration (AMD) in an Italian population. Methods: 104 unrelated Italian AMD patients and 131 unrelated controls were screened for the CFH polymorphism p.402Y>H (c.1277 T>C), which has been associated with AMD. Retinography was obtained for patients and controls; the AMD diagnosis was confirmed by fluorescein angiograms. The c.1277 T>C polymorphism was genotyped with the TaqMan real time polymerase chain reaction single nucleotide polymorphism assay. Results: The frequency of c.1277C allele was higher in AMD patients than in controls (57.2% v 39.3%; p<0.001). The odds ratio (OR; logistic regression analysis) for AMD was 3.9 (95% confidence interval (CI): 1.9 to 8.2) for CC homozygotes. The CC genotype conferred a higher risk for sporadic (OR 4.6; CI: 2.0 to 10.5) than for familial AMD (OR 2.9; CI: 1.0 to 8.4). Genotypes were not related to either age at AMD diagnosis or to AMD phenotype. However, geographic atrophy and choroidal neovascularisation were more frequent in sporadic than in familial AMD (p = 0.027). Overall, the percentage of population attributable risk for the CC genotype was 28% (95% CI:18% to 33%). Conclusion: The association between the p.402Y>H (c.1277T>C) polymorphism and AMD applies to the Italian population and the CC genotype is more frequent in sporadic than in familial AMD cases.
影响因子：
9.8
作者：
Zareparsi, S;Branham, KEH;Swaroop, A
通讯作者：
Swaroop, A
DOI：
10.1073/pnas.0501536102
发表时间：
2005-05-17
影响因子：
11.1
作者：
Hageman, GS;Anderson, DH;Allikmets, R
通讯作者：
Allikmets, R
影响因子：
--
作者：
Klein, ML;Schultz, DW;Acott, TS
通讯作者：
Acott, TS