Berdyński Mariusz, Krawczyk Piotr, Safranow Krzysztof, Borzemska Beata, Szaflik Jacek P, Nowakowska-Żawrocka Karolina, Żekanowski Cezary, Giebułtowicz Joanna
Laboratory of Neurogenetics, Department of Neurodegenerative Disorders, Mossakowski Medical Research Institute, Polish Academy of Sciences, 5 Pawińskiego Str., 02-106 Warsaw, Poland.
Department of Ophthalmology, Medical University of Warsaw, 13 Sierakowskiego Str., 03-709 Warsaw, Poland.
J Clin Med. 2021 Dec 21;11(1):8. doi: 10.3390/jcm11010008.
ALDH3A1 protein is important in maintaining corneal physiology and protecting the eye from UV damage. However, none of the genome-wide association studies has indicated that the locus is associated with keratoconus. In this study, we examined the potential role of variants as risk factors for keratoconus incidence and severity in a large group of Polish keratoconus patients.
In the first stage we analyzed the coding region sequence of the in a subgroup of keratoconus. Then, we genotyped three selected variants in a larger KC group of patients ( = 261) and healthy controls ( = 317).
We found that the rs1042183 minor allele A is a risk factor for keratoconus in the dominant model (OR = 2.06, 95%CI = 1.42-2.98, = 0.00013). The rs2228100 variant genotypes appear to be associated with an earlier age of KC diagnosis in the Polish population ( = 0.055 for comparison of three genotypes and = 0.022 for the dominant inheritance model).
The rs1042183 variant in is associated with keratoconus risk in the Polish population. The differences in the allele frequency between both populations could be partially responsible for the difference in the disease prevalence.
醛脱氢酶3A1（ALDH3A1）蛋白在维持角膜生理功能以及保护眼睛免受紫外线损伤方面具有重要作用。然而，全基因组关联研究均未表明该基因座与圆锥角膜相关。在本研究中，我们在一大群波兰圆锥角膜患者中检测了该基因变异作为圆锥角膜发病风险因素及其严重程度的潜在作用。
在第一阶段，我们分析了圆锥角膜亚组中该基因的编码区序列。然后，我们在更大的圆锥角膜患者组（n = 261）和健康对照组（n = 317）中对三个选定的该基因变异进行基因分型。
我们发现，rs1042183次要等位基因A在显性模型中是圆锥角膜的一个风险因素（OR = 2.06，95%CI = 1.42 - 2.98，P = 0.00013）。rs2228100变异基因型似乎与波兰人群中圆锥角膜的较早诊断年龄相关（三种基因型比较P = 0.055，显性遗传模型P = 0.022）。
该基因中的rs1042183变异与波兰人群中的圆锥角膜风险相关。两个群体之间等位基因频率的差异可能部分导致了疾病患病率的差异。
