摘要
目的：研究中国汉族人群补体因子I（CFI）基因5个多态性位点（SNP）与老年黄斑变性（AMD）的相关性。方法：搜集已明确诊断四川地区384例AMD患者样本及384例相匹配的正常对照样本,采集外周血提取基因组DNA,通过Sna Pshot单碱基末端延伸法检测CFI基因上5个SNP位点,采用病例对照研究方法分析该基因相关SNPs与中国汉族人群老年黄斑变性关联性。结果：CFI基因的5个位点均通过HardyWeinberg平衡（P〉0.05）。rs13117504 G等位基因频率（P=0.037,OR=1.24,95%CI：1.01~1.53）,rs10033900 C等位基因频率（P=0.023,OR=1.27,95%CI：1.03~1.57）,rs10033900显性遗传模型AMD与对照组间分布频率差异具有统计学意义（P=0.039,OR=0.74,95%CI：0.55~0.99）;rs6822976等位基因A分布频率与对照组间（P=0.158）,rs7438961等位基因G分布频率与对照组间（P=0.798）,rs7671905等位基因T分布频率与对照组间（P=0.909）差异无统计学意义（P〉0.05）;rs10033900隐性遗传模型AMD与对照组间分布频率差异无统计学意义（P=0.107）,rs13117504,rs6822976,rs7438961,rs7671905显性及隐性遗传模型AMD与对照组间分布频率差异均无统计学意义（P〉0.05）。结论：CFI基因上游rs13117504与rs10033900SNP位点与中国汉族人群AMD显著相关,而rs6822976,rs7438961,rs7671905位点与中国汉族人群老年黄斑变性无明显相关性。
Objective To study the correlation of 5 polymorphisms of Han Chinese patients in Sichuan Province with age-related macular degeneration （AMD）. Methods The blood samples from 384 Han Chinese patients diagnosed with AMD and another 384 matched controls were collected using case-control study method. The chosen gene single nueleotide polymorphisms （SNPs） were genotyped by SnaPShot classify technology in the patients with AMD and 384 controls of Chinese Han population. Results All of the 5 genetype frequencies of the SNPs were in accordance with Hardy-Weinberg Equihbrium（P 〉 0.05）. There were no statistically significant differences between the AMD group and the control group in the rs13117504 G allele frequency （P = 0.037, OR = 1.24, 95% CI： 1.01 - 1.53）, the rs10033900 C allele frequency （P = 0.023, OR = 1.27, 95%CI： 1.03 ~1.57） and the rs1003390 frequency in the AMD dominant model （P = 0.039, OR = 0.74, 95%CI： 0.55 - 0.99）. There were no statistically significant differences between the groups in the rs6822976 A allele frequencies （P = 0.158）, the rs7438961 G allele frequencies （P = 0.798） and, the rs7671905 T allele frequency （P = 0.909）. The rs10033900 in the recessive model of AMD had no significant difference as compared to that in the control group （P = 0.107）. The two groups showed no significant differences in both the dominant and recessive model of AMD in terms of the frequencies of rs13117504, rs6822976, rs7438961 and rs7671905 （P 〉 0.05）. Conclusion The rs13117504 and rs10033900 of SNPs near CFI gene upstream has significant association with age-related macular degeneration, while the rs6822976, rs7438961, rs7671905 of SNPs have no significant correlations with age-related macular degeneration in Han Chinese population.
出处
《实用医学杂志》
CAS
北大核心
2015年第7期1125-1128,共4页
The Journal of Practical Medicine
关键词
老年黄斑变性
补体因子I
单核甘酸多态性
Age-related macular degeneration
CFI
Single nucleotide polymorphism
