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Association of Saitohin gene rs62063857 polymorphism with dry type age-related macular degeneration.
Ophthalmic Genetics ( IF 1.2 ) Pub Date : 2020-07-02 , DOI: 10.1080/13816810.2020.1786842
Mortaza Bonyadi 1 , Hamid Ahmadieh 2 , Mohammad Hossein Jabbarpoor Bonyadi 3 , Koorosh Shahpasand 4 , Fatemeh Suri 2 , Niyousha Nasrabadi 3 , Mehdi Yaseri 5 , Bahare Kheiri 2 , Masoud Soheilian 2
Affiliation  

Purpose: Age-related macular degeneration (AMD) as the leading cause of central visual loss in the developed countries has extensive pathologic similarities with Alzheimer’s disease (AD). Saitohin rs62063857 Q7 R polymorphism is associated with increased risk of AD though we decided to evaluate the possible association of this polymorphism with advanced AMD.

Materials and Methods: 152 advanced AMD patients (134 wet AMD and 18 geographic atrophy) and 75 healthy controls included in this study. Cases and controls went through a standard ophthalmologic examination by a retinal specialist. Saitohin gene rs62063857 polymorphism determined by using PCR technique and restriction enzyme HinFI. To evaluate the differences between groups we used t-test, Chi-Squared and one-tailed Fisher exact test.

Results: Distribution of genotypes was not significantly different between total AMD or wet AMD patients compared to that of controls (total AMD RR+QR: OR = 1.51, CI = 0.82–2.79, P = .12; wet AMD RR+QR: OR = 1.39, CI = 0.74–2.59, P = .19). The RR+QR genotypes were significantly higher in dry AMD group compared to that of controls (RR+QR: OR = 2.75, CI = 0.96–7.9, P = .05).

Conclusion: Our results showed that although STH Q7 R polymorphism was not associated with wet AMD susceptibility it was significantly associated with geographic atrophy.



中文翻译:

斋藤蛋白基因rs62063857多态性与干性老年性黄斑变性的关联。

目的:与年龄相关的黄斑变性(AMD)是发达国家中枢性视力丧失的主要原因,与阿尔茨海默氏病(AD)具有广泛的病理相似性。尽管我们决定评估这种多态性与晚期AMD的可能关联,但Saitohin rs62063857 Q7 R多态性与AD风险增加相关。

材料和方法:这项研究包括152名晚期AMD患者(134名湿性AMD和18名地理萎缩)和75名健康对照。病例和对照由视网膜专家进行了标准的眼科检查。使用PCR技术和限制性内切酶HinFI确定了斋藤基因rs62063857多态性。为了评估组之间的差异,我们使用了t检验,卡方检验和单尾Fisher精确检验。

结果:总AMD或湿性AMD患者的基因型分布与对照组相比无显着差异(总AMD RR + QR:OR = 1.51,CI = 0.82–2.79,P = .12;湿性AMD RR + QR:OR = 1.39,CI = 0.74-2.59,P = .19)。与对照组相比,干AMD组的RR + QR基因型显着更高(RR + QR:OR = 2.75,CI = 0.96-7.9,P = 0.05)。

结论:我们的结果表明,尽管STH Q7 R多态性与湿性AMD易感性无关,但与地理萎缩显着相关。

更新日期:2020-07-02
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