Analysis of single nucleotide polymorphisms in the NOS2A gene and interaction with smoking in age-related macular degeneration.

Analysis of single nucleotide polymorphisms in the NOS2A gene and interaction with smoking in age-related macular degeneration.
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DOI:
10.1111/j.1469-1809.2010.00570.x
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发表时间:
2010-05
影响因子:
1.9
通讯作者:
Scott WK
Scott WK
中科院分区:
生物学4区
文献类型:
--
作者:
Ayala-Haedo JA;Gallins PJ;Whitehead PL;Schwartz SG;Kovach JL;Postel EA;Agarwal A;Wang G;Haines JL;Pericak-Vance MA;Scott WK

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视网膜相关性黄斑变性(AMD)是一种复杂的退行性视网膜疾病,受遗传和环境危险因素的影响。我们评估了NOS 2A基因中的单核苷酸多态性(SNPs)是否增加了AMD的风险并调节了吸烟的影响。对998名白人受试者(712名AMD病例和286名对照)进行了NOS 2A中17个SNP的基因分型。多变量Logistic回归模型包括SNP基因型、年龄、性别、吸烟状况和基因型/吸烟交互作用。SNP rs 8072199与AMD显著相关(OR = 1.3; 95%CI:1.02,1.65; P = 0.035)。在rs 2248814处检测到与吸烟的显著相互作用(P = 0.037)。按基因型分层的数据显示,AMD与吸烟的关联在AA基因型携带者中(OR = 35.98; 95%CI:3.19,405.98)比AG基因型携带者(OR=3.05; 95%CI:1.36,6.74)或GG基因型携带者(OR=2.1; 95%CI:0.91,4.84)更强。结果表明,AA基因型与吸烟可能存在协同作用,尽管该结果在较大样本中具有重复性。我们的数据表明,NOS 2A基因中的SNPs与AMD风险增加相关,并可能调节吸烟对AMD的影响。
Age-related macular degeneration (AMD) is a complex degenerative retinal disease influenced by both genetic and environmental risk factors. We assessed whether single nucleotide polymorphisms (SNPs) in the NOS2A gene increase risk and modulate the effect of smoking in AMD. 998 Caucasian subjects (712 AMD cases and 286 controls) were genotyped for 17 SNPs in NOS2A. Multivariable logistic regression models containing SNP genotypes, age, sex, smoking status and genotype/smoking interaction were constructed. SNP rs8072199 was significantly associated with AMD (OR = 1.3; 95% CI : 1.02, 1.65; P = 0.035). A significant interaction with smoking was detected at rs2248814 (P = 0.037). Stratified data by genotypes demonstrated that the association between AMD and smoking was stronger in carriers of AA genotypes (OR = 35.98; 95% CI: 3.19, 405.98) than in carriers of the AG genotype (OR=3.05; 95% CI: 1.36, 6.74) or GG genotype (OR=2.1; 95% CI: 0.91, 4.84). The results suggest a possible synergistic interaction of AA genotype with smoking, although the result bears replication in larger samples. Our data suggests that SNPs in the NOS2A gene are associated with increased risk for AMD and might modulate the effect of smoking on AMD.
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