Department of Ophthalmology, Lithuanian University of Health Sciences, Medical Academy, Eiveniu 2 str., Kaunas LT-50161, Lithuania; Neuroscience Institute, Lithuanian University of Health Sciences, Medical Academy, Eiveniu str. 2, Kaunas LT-50161, Lithuania.
Neuroscience Institute, Lithuanian University of Health Sciences, Medical Academy, Eiveniu str. 2, Kaunas LT-50161, Lithuania; Lithuanian University of Health Sciences, Medical Academy, Eiveniu 2 str., Kaunas LT-50161, Lithuania.
Gene. 2019 Feb 20;686:8-15. doi: 10.1016/j.gene.2018.11.004. Epub 2018 Nov 3.
Age-related macular degeneration (AMD) is the leading cause of blindness in elderly individuals in the developed countries. The etiology of AMD is thought to be multifactorial, including environmental and genetic factors. Our purpose was to determine the genotype frequencies of six different SNPs in genes that encode proteins involved in AMD-related molecular changes (SIRT1 rs12778366, FGFR2 rs2981582, STAT3 rs744166, LIPC rs10468017, rs493258 and LPL rs12678919) for evaluation of haplotype risk in patients with AMD.
The study cohort consisted of 652 AMD patients and 829 healthy controls. The genotyping was carried out using the RT-PCR.
TT genotype of the LIPC rs493258 polymorphism was associated with decreased odds of early AMD development under the codominant and recessive models (OR = 0.446; 95% CI: 0.258-0.772; p = 0.004 and OR = 0.455; 95% CI: 0.274-0.756; p = 0.002, respectively) after Bonferroni correction, (p > 0.05/6, since we analyzed 6 different SNPs). The haplotype containing the two minor alleles T-T in rs10468017-rs493258 were significantly (p = 0.034) associated with early AMD development decreasing. There were no associations found with atrophic AMD development.
The study showed that LIPC rs493258 gene and haplotype containing the two minor alleles T-T in rs10468017-rs493258 may decrease AMD development.
年龄相关性黄斑变性（AMD）是发达国家老年人致盲的主要原因。AMD 的病因被认为是多因素的，包括环境和遗传因素。我们的目的是确定编码与 AMD 相关分子变化的蛋白质的六个不同 SNP 的基因型频率（SIRT1 rs12778366、FGFR2 rs2981582、STAT3 rs744166、LIPC rs10468017、rs493258 和 LPL rs12678919），以评估 AMD 患者的单体型风险。
研究队列包括 652 名 AMD 患者和 829 名健康对照者。采用 RT-PCR 进行基因分型。
LIPC rs493258 多态性的 TT 基因型与早发性 AMD 发展的显性和隐性模型下的患病几率降低相关（OR=0.446；95%CI：0.258-0.772；p=0.004 和 OR=0.455；95%CI：0.274-0.756；p=0.002，分别），经 Bonferroni 校正后（由于我们分析了 6 个不同的 SNP，p>0.05/6）。rs10468017-rs493258 中包含两个次要等位基因 T-T 的单体型与早发性 AMD 发展降低显著相关（p=0.034）。与萎缩性 AMD 发展无关。
本研究表明，LIPC rs493258 基因和 rs10468017-rs493258 中包含两个次要等位基因 T-T 的单体型可能会降低 AMD 的发生。
