圆锥角膜的遗传学——有哪些新进展？
Genetics in Keratoconus - What is New?
作者信息
Moussa Sarah, Grabner Günther, Ruckhofer Josef, Dietrich Marie, Reitsamer Herbert
机构信息
Paracelsus Medical University Salzburg, Department of Ophthalmology and Optometry, Müllner Hauptstr. 48, 5020 Salzburg, Austria.
出版信息
Open Ophthalmol J. 2017 Jul 31;11:201-210. doi: 10.2174/1874364101711010201. eCollection 2017.
Abstract
BACKGROUND
Keratoconus is characterized as a bilateral, progressive, non-inflammatory thinning of the cornea resulting in blurred vision due to irregular astigmatism. Keratoconus has a multifactorial etiology, with multiple genetic and environmental components contributing to the disease pathophysiology. Several genomic loci and genes have been identified that highlight the complex molecular etiology of this disease.
CONCLUSION
The review focuses on current knowledge of these genetic risk factors associated with keratoconus.
摘要
背景
圆锥角膜的特征是双侧、进行性、非炎症性角膜变薄，由于不规则散光导致视力模糊。圆锥角膜病因多因素，多种遗传和环境因素参与疾病病理生理过程。已鉴定出多个基因组位点和基因，突出了该疾病复杂的分子病因。
结论
本综述聚焦于与圆锥角膜相关的这些遗传危险因素的现有知识。
相似文献
1
Genetics in Keratoconus - What is New?
Open Ophthalmol J. 2017 Jul 31;11:201-210. doi: 10.2174/1874364101711010201. eCollection 2017.
2
Genetics of keratoconus: where do we stand?
J Ophthalmol. 2014;2014:641708. doi: 10.1155/2014/641708. Epub 2014 Aug 28.
3
The genetics of keratoconus.
Semin Ophthalmol. 2013 Sep-Nov;28(5-6):275-80. doi: 10.3109/08820538.2013.825295.
4
The genetics of keratoconus.
Middle East Afr J Ophthalmol. 2011 Jan;18(1):2-6. doi: 10.4103/0974-9233.75876.
5
Cascade of interactions between candidate genes reveals convergent mechanisms in keratoconus disease pathogenesis.
Ophthalmic Genet. 2021 Apr;42(2):114-131. doi: 10.1080/13816810.2020.1868013. Epub 2021 Feb 8.
6
[Keratoconus].
J Fr Ophtalmol. 2013 Sep;36(7):618-26. doi: 10.1016/j.jfo.2013.05.004. Epub 2013 Jul 30.
7
The genetic and environmental factors for keratoconus.
Biomed Res Int. 2015;2015:795738. doi: 10.1155/2015/795738. Epub 2015 May 17.
8
Is copper imbalance an environmental factor influencing keratoconus development?
Med Hypotheses. 2015 May;84(5):518-24. doi: 10.1016/j.mehy.2015.02.017. Epub 2015 Mar 2.
9
Awareness level of general population regarding keratoconus in Aseer region, Southern of Saudi Arabia.
J Family Med Prim Care. 2020 Dec 31;9(12):6153-6157. doi: 10.4103/jfmpc.jfmpc_1212_20. eCollection 2020 Dec.
10
An analytical enrichment-based review of structural genetic studies on keratoconus.
J Cell Biochem. 2019 Apr;120(4):4748-4756. doi: 10.1002/jcb.27764. Epub 2018 Sep 27.
引用本文的文献
1
Keratoconus.
Nat Rev Dis Primers. 2024 Oct 24;10(1):81. doi: 10.1038/s41572-024-00565-3.
2
Identification of Keratoconus-Related Phenotypes in Three Ppip5k2 Mouse Models.
Invest Ophthalmol Vis Sci. 2024 Jun 3;65(6):22. doi: 10.1167/iovs.65.6.22.
3
Analysis of Scheimpflug Tomography Parameters for Detecting Subclinical Keratoconus in the Fellow Eyes of Patients with Unilateral Keratoconus in the Eastern Province of Saudi Arabia.
Clin Ophthalmol. 2024 Jan 31;18:277-287. doi: 10.2147/OPTH.S443027. eCollection 2024.
4
Oxidative Stress and Cellular Protein Accumulation Are Present in Keratoconus, Macular Corneal Dystrophy, and Fuchs Endothelial Corneal Dystrophy.
J Clin Med. 2023 Jun 28;12(13):4332. doi: 10.3390/jcm12134332.
5
Selective Modulation of the Keratoconic Stromal Microenvironment by FSH and LH.
Am J Pathol. 2023 Nov;193(11):1762-1775. doi: 10.1016/j.ajpath.2023.02.002. Epub 2023 Feb 21.
6
The Impaired Wound Healing Process Is a Major Factor in Remodeling of the Corneal Epithelium in Adult and Adolescent Patients With Keratoconus.
Invest Ophthalmol Vis Sci. 2023 Feb 1;64(2):22. doi: 10.1167/iovs.64.2.22.
7
Identification of Important Genes of Keratoconus and Construction of the Diagnostic Model.
Genet Res (Camb). 2022 Sep 12;2022:5878460. doi: 10.1155/2022/5878460. eCollection 2022.
8
Revealing the presence of tear extracellular vesicles in Keratoconus.
Exp Eye Res. 2022 Nov;224:109242. doi: 10.1016/j.exer.2022.109242. Epub 2022 Sep 6.
9
Association of Polymorphisms with Keratoconus in Algeria.
J Ophthalmic Vis Res. 2021 Oct 25;16(4):558-565. doi: 10.18502/jovr.v16i4.9745. eCollection 2021 Oct-Dec.
10
Diagnosis of Subclinical Keratoconus with a Combined Model of Biomechanical and Topographic Parameters.
J Clin Med. 2021 Jun 22;10(13):2746. doi: 10.3390/jcm10132746.
本文引用的文献
1
Evidence against ZNF469 being causative for keratoconus in Polish patients.
Acta Ophthalmol. 2016 May;94(3):289-94. doi: 10.1111/aos.12968. Epub 2016 Jan 25.
2
The presence of lysyl oxidase-like enzymes in human control and keratoconic corneas.
Histol Histopathol. 2016 Jan;31(1):63-71. doi: 10.14670/HH-11-649. Epub 2015 Jul 28.
3
The genetic and environmental factors for keratoconus.
Biomed Res Int. 2015;2015:795738. doi: 10.1155/2015/795738. Epub 2015 May 17.
4
WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness.
Hum Mol Genet. 2015 Sep 1;24(17):5060-8. doi: 10.1093/hmg/ddv211. Epub 2015 Jun 5.
5
Case-control association between CCT-associated variants and keratoconus in a Saudi Arabian population.
J Negat Results Biomed. 2015 Jun 4;14:10. doi: 10.1186/s12952-015-0029-5.
6
Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India.
BMC Med Genet. 2015 May 12;16:33. doi: 10.1186/s12881-015-0178-x.
7
Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent.
Eur J Hum Genet. 2015 Nov;23(11):1581-3. doi: 10.1038/ejhg.2015.28. Epub 2015 Mar 4.
8
Gene therapy in keratoconus.
Oman J Ophthalmol. 2015 Jan-Apr;8(1):3-8. doi: 10.4103/0974-620X.149854.
9
Corneal collagen crosslinking with riboflavin and ultraviolet-A light in progressive keratoconus: ten-year results.
J Cataract Refract Surg. 2015 Jan;41(1):41-6. doi: 10.1016/j.jcrs.2014.09.033.
10
Inflammation and keratoconus.
Optom Vis Sci. 2015 Feb;92(2):e35-41. doi: 10.1097/OPX.0000000000000455.
Zotero 插件