Logo Medical Science Monitor

Call: +1.631.470.9640
Mon - Fri 10:00 am - 02:00 pm EST

Contact Us

Logo Medical Science Monitor Logo Medical Science Monitor Logo Medical Science Monitor

01 February 2012

A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovascular age-related macular degeneration in Poland – a brief report

Sławomir J. TeperABCDEF, Anna NowińskaBF, Edward WylęgałaAFG

DOI: 10.12659/MSM.882447

Med Sci Monit 2012; 18(2): PR1-3


Background: The wet form of age-related macular degeneration (ARMD) is a leading cause of irreversible blindness in Caucasians. Our purpose was to assess influence of gene polymorphisms A69S (rs10490924) and R38X (rs2736911) ARMS2 and Y402 (rs1061170) CFH on wet ARMD risk in a Polish population.
Material/Methods: 130 unrelated patients (90 with wet ARMD and 40 controls) took part in the study. Dry blood was used for DNA isolation. PCR amplification and gene sequencing were performed. In subjects with R38X and A69S, SNP gene cloning was used to exclude the possible combined variant.
Results: Homozygous Y402H and A69S conferred a significance risk of wet ARMD in Poland: Y402H odds ratio (OR) was 5.57 (95% confidence interval: 1.58–19.6), p=0.002; and A69S OR was 7.72 (95% confidence interval: 1.73–34.36), p=0.001. R38X is probably more common in healthy subjects: OR was 0.45 (95% confidence interval: 0.19–1.05), p=0.053.
Conclusions: The etiologic role in ARMD of A69S ARMS2 and Y402H CFH gene variants were confirmed in a Polish population for the first time. R38X variant of ARMS2 seems to be protective from wet ARMD.

Keywords: Polymerase Chain Reaction, Poland, Polymorphism, Genetic, Genetic Predisposition to Disease, DNA Primers, Complement Factor H - genetics, Case-Control Studies, Base Sequence, Proteins - genetics, Wet Macular Degeneration - genetics

Add Comment 0 Comments

917 1


01 November 2023 : Editorial  

Editorial: Factors Driving New Variants of SARS-CoV-2, Immune Escape, and Resistance to Antiviral Treatments as the End of the COVID-19 Pandemic is Declared

Dinah V. Parums
Science Editor, Medical Science Monitor, International Scientific Information, Inc., Melville,

DOI: 10.12659/MSM.942960

Med Sci Monit 2023; 29:e942960


In Press

28 Nov 2023 : Clinical Research  

Impact of Fluorodeoxyglucose-Positron Emission Tomography/Computed Tomography on Therapeutic Decisions and ...

Med Sci Monit In Press; DOI: 10.12659/MSM.942122  

28 Nov 2023 : Clinical Research  

Long-Term Outcomes of Decompression and Grafting in Acute Pathological Proximal Femur Fractures in Children...

Med Sci Monit In Press; DOI: 10.12659/MSM.943031  

27 Nov 2023 : Clinical Research  

Comparison of Outcomes from Emergency Admissions to a Major Trauma Center in Turkey of 1646 Elderly Patient...

Med Sci Monit In Press; DOI: 10.12659/MSM.942916  

27 Nov 2023 : Clinical Research  

Evaluating Modified Ultrasound-Guided Serratus Anterior Plane Block for Enhanced Postoperative Recovery in ...

Med Sci Monit In Press; DOI: 10.12659/MSM.942757  

Most Viewed Current Articles

13 Nov 2021 : Clinical Research  

Acceptance of COVID-19 Vaccination and Its Associated Factors Among Cancer Patients Attending the Oncology ...

DOI :10.12659/MSM.932788

Med Sci Monit 2021; 27:e932788


30 Dec 2021 : Clinical Research  

Retrospective Study of Outcomes and Hospitalization Rates of Patients in Italy with a Confirmed Diagnosis o...

DOI :10.12659/MSM.935379

Med Sci Monit 2021; 27:e935379


14 Dec 2022 : Clinical Research  

Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase Levels

DOI :10.12659/MSM.937990

Med Sci Monit 2022; 28:e937990


08 Mar 2022 : Review article  

A Review of the Potential Roles of Antioxidant and Anti-Inflammatory Pharmacological Approaches for the Man...

DOI :10.12659/MSM.936292

Med Sci Monit 2022; 28:e936292


Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750