Badania genetyczne w jaskrze – aktualne możliwości

• Authors: Maciej R. Krawczyński

Title variants

EN

Genetic investigations in glaucoma – current possibilities

• Languages of publication: PL

Abstracts

PL

Czynniki genetyczne odgrywają istotną rolę w etiopatogenezie jaskry. Gwałtowny postęp genetyki pozwolił na poznanie genów przyczynowych jednogenowych postaci jaskry (zwłaszcza jaskry wrodzonej) oraz genów predysponujących do wieloczynnikowych postaci jaskry (zwłaszcza jaskry pierwotnej otwartego kąta). Wykonywane obecnie u pacjentów z jaskrą badania molekularne obejmują geny CYP1B1, LTBP2 i TEK w pierwotnej jaskrze wrodzonej, geny PITX2 i FOXC1 w zespołach dysgenezji odcinka przedniego oraz geny MYOC i OPTN w jaskrze pierwotnej otwartego kąta. Badania te mają znaczenie nie tylko diagnostyczne, lecz także często rokownicze i terapeutyczne.

EN

Genetic factors play an important role in etiopathogenesis of glaucoma. Rapid progress of genetics enabled us to recognize the causative genes in monogenic forms of glaucoma (especially congenital glaucoma) and predisposing genes in multifactorial forms of glaucoma (especially primary open angle glaucoma). Molecular investigations that are currently performed in patients with glaucoma involve CYP1B1, LTBP2 and TEK genes in primary congenital glaucoma, PITX2 and FOXC1 genes in anterior segment dysgenesis, and MYOC and OPTN genes in primary open angle glaucoma. These investigations are important not only for diagnostic, but also for prognostic and therapeutic reasons.

Keywords

EN

badania diagnostyczne; genetyka; jaskra

Discipline

• MEDICINE: MEDICINE

• Publisher: Medical Education
• Journal: OphthaTherapy
• Year: 2018
• Volume: 5
• Issue: 1
• Pages: 16-20

Contributors

author

Maciej R. Krawczyński

• Katedra i Zakład Genetyki Medycznej, Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu

References

• 1. Sarfarazi M, Akarsu AN, Hossain A, et al. Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 1995; 30: 171-177.
• 2. Akarsu AN, Turacli ME, Aktan S, et al. A second locus (GLC3B) for primary congenital glaucoma (buphthalmos) maps to the 1p36 region. Hum Mol Genet 1996; 5: 1199-1203.
• 3. Stoilov IR, Sarfarazi M. The third genetic locus (GLC3C) for primary congenital glaucoma (PCG) maps to chromosome 14q24.3 (Abstract). Invest Ophthal Vis Sci 2002; 43: e3015.
• 4. Firasat S, Riazuddin SA, Hejtmancik J, Riazuddin S. Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families. Mol Vis 2008; 14: 1659-1665.
• 5. Souma T, Tompson SW, Thomson BR, et al. Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. J Clin Invest 2016; 126: 2575-2587.
• 6. Ali M, McKibbin M, Booth A, et al. Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet 2009; 84: 664-671.
• 7. Semina EV, Reiter R, Leysens NJ, et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 1996; 14: 392-399.
• 8. Nishimura DY, Swiderski RE, Alward WL, et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet 1998; 19: 140-147.
• 9. Fischbach BV, Trout KL, Lewis J, et al. WAGR syndrome: A clinical review of 54 cases. Pediatrics 2005; 116: 984-988.
• 10. On-line Mendelian Inheritance in Man [online: http://omim.org/entry/137760].
• 11. Stone EM, Fingert JH, Alward WL, et al. Identification of a gene that causes primary open angle glaucoma. Science 1997; 275: 668-670.
• 12. Rezaie T, Child A, Hitchings R, et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 2002; 295: 1077-1079.
• 13. Pasutto F, Keller KE, Weisschuh N, et al. Variants in ASB10 are associated with open-angle glaucoma. Hum Mol Genet 2012; 21: 1336- -1349.
• 14. Monemi S, Spaeth G, DaSilva A, et al. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet 2005; 14: 725-733.
• 15. Pasutto F, Matsumoto T, Mardin CY, et al. Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. Am J Hum Genet 2009; 85: 447-456.
• 16. Fingert JH, Robin AL, Stone JL, et al. Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Hum Mol Genet 2011; 20: 2482-2494.
• 17. Aung T, Ocaka L, Ebenezer ND, et al. A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene. Hum Genet 2002; 110: 52-56.
• 18. Thorleifsson G, Magnusson KP, Sulem P, et al. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science 2007; 317: 1397-1400.
• 19. Andersen JS, Pralea AM, DelBono EA, et al. A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36. Arch Ophthalmol 1997; 115: 384-388.

• Document Type: article