Scientists discovered important clues about why people with diabetes develop eye problems that can lead to blindness. Using advanced genetic analysis and computer tools, they identified specific genes and body factors that increase risk for diabetic retinopathy—a serious eye condition affecting millions worldwide. The research found that three genes (LY9, ARHGAP1, and WWP2) may be key targets for future treatments. The study also confirmed that weight, blood pressure, stroke risk, and inflammation are major risk factors. These findings could help doctors predict who’s at highest risk and develop new ways to prevent or treat this blinding disease.

The Quick Take

  • What they studied: What genes and body factors cause diabetic retinopathy (eye damage from diabetes) and which ones could be targets for new treatments?
  • Who participated: The study analyzed genetic information from nearly 17,000 genes and 2,923 proteins. Researchers also looked at health data from over 10,000 people collected by the U.S. government between 1999-2010.
  • Key finding: Scientists identified 64 main genes that appear to cause diabetic retinopathy. Three genes (LY9, ARHGAP1, and WWP2) stood out as the most promising targets for future treatments. Weight, high blood pressure, stroke risk, and inflammation markers were confirmed as major risk factors.
  • What it means for you: If you have diabetes, knowing these risk factors may help your doctor predict your eye disease risk earlier. Future treatments targeting these genes might prevent blindness, but these findings are still in early stages and need more testing before becoming available.

The Research Details

This was a large detective study that looked for clues about diabetic eye disease using multiple scientific approaches. First, researchers used genetic data from thousands of people to find which genes might actually cause the disease (not just be associated with it). They used a special method called Mendelian randomization, which is like a genetic experiment that helps prove cause-and-effect relationships.

Second, they examined health records from a national U.S. survey to identify which everyday risk factors—like weight, blood pressure, and inflammation—were most important. Third, they used computer programs to study how genes are turned on and off in eye tissue from people with and without the disease. Finally, they used artificial intelligence to pick out the most important genes and create a prediction tool.

This combination of approaches—genetic analysis, health data, tissue studies, and computer learning—allowed researchers to build a more complete picture of how diabetic eye disease develops.

This research approach is important because it goes beyond just finding associations (things that happen together) to actually proving cause-and-effect relationships. By using genetic data, the researchers could identify which factors truly cause the disease rather than just appearing alongside it. This is crucial for developing treatments that actually work. The combination of multiple methods also makes the findings more trustworthy because different approaches confirmed the same results.

The study’s strengths include its large sample size (nearly 17,000 genes analyzed), use of multiple validation methods to confirm findings, and combination of different scientific approaches. The research was published in a peer-reviewed journal, meaning other experts reviewed it. However, the study is primarily computational (computer-based analysis) rather than testing treatments on people, so results need further validation. The findings suggest possibilities but aren’t yet proven treatments.

What the Results Show

The researchers identified 64 core genes that appear to have a causal link to diabetic retinopathy. When they looked at different types of the disease, they found different genes were involved: 52 genes for early-stage disease and 66 genes for advanced disease. Three genes—LY9, ARHGAP1, and WWP2—emerged as the most important targets because they appeared to work through the body’s main risk factors.

The study confirmed that four major risk factors increase diabetic eye disease risk: being overweight or obese, high blood pressure, previous stroke, and high levels of inflammation markers in the blood. These factors were identified both in the national health survey data and confirmed through genetic analysis.

When researchers studied the actual tissue from affected eyes, they found that 29 genes were abnormally active in people with diabetic retinopathy. These genes were connected to immune system problems and inflammation. The research suggests that the disease develops when the immune system becomes overactive in the eye, causing damage to blood vessels.

The study found that the three main genes (LY9, ARHGAP1, and WWP2) work by influencing the major risk factors. For example, these genes appear to control weight, blood pressure, and inflammation levels—which then lead to eye damage. This suggests that treating these genes might prevent the disease by controlling these risk factors. The researchers also created a computer prediction tool that could estimate someone’s risk of developing diabetic retinopathy based on their genetic profile and health factors.

This research builds on previous studies showing that inflammation and immune problems are involved in diabetic eye disease. However, it goes further by identifying specific genes responsible and proving cause-and-effect relationships rather than just associations. Previous research suspected that weight, blood pressure, and inflammation were important, and this study confirms those suspicions with stronger evidence. The identification of specific genes like LY9, ARHGAP1, and WWP2 is relatively new and provides concrete targets for drug developers.

This study analyzed data and genes rather than testing treatments on actual patients, so the findings are theoretical possibilities rather than proven treatments. The research is primarily based on genetic data from certain populations, which may not apply equally to all ethnic groups. The study doesn’t explain exactly how these genes cause damage—just that they appear to be involved. Additionally, while the researchers identified risk factors, the study doesn’t prove that treating these factors will definitely prevent the disease. More research testing actual treatments is needed before these findings can help patients.

The Bottom Line

If you have diabetes, work with your doctor to control the confirmed risk factors: maintain a healthy weight, manage blood pressure, prevent stroke through lifestyle changes and medication if needed, and reduce inflammation through diet and exercise. Ask your doctor about your personal risk for diabetic retinopathy and get regular eye exams. These recommendations are based on strong evidence. However, treatments targeting the specific genes identified in this study are not yet available—they’re still in research stages. Don’t expect gene-based treatments soon, but stay informed about new developments.

Anyone with diabetes should care about these findings, especially those with family history of diabetic retinopathy or those who have difficulty controlling blood sugar, weight, or blood pressure. People at high risk for stroke should also pay attention. However, these findings are most relevant for researchers and drug developers right now. General patients should focus on proven prevention strategies (weight control, blood pressure management, good diabetes control) rather than waiting for new gene-based treatments.

Controlling weight, blood pressure, and inflammation through lifestyle changes may reduce eye disease risk over months to years. However, new treatments based on these gene discoveries are likely 5-10+ years away, as they need laboratory testing, animal studies, and human clinical trials before becoming available. Regular eye exams can catch early disease now, which is the most effective current prevention strategy.

Want to Apply This Research?

  • Track your BMI (body mass index) monthly, blood pressure weekly, and inflammation markers (like C-reactive protein) through doctor visits. Log these alongside your diabetes management metrics to see patterns between these risk factors and any eye health changes noted by your eye doctor.
  • Use the app to set and monitor goals for the four main risk factors: maintain healthy weight (track calories and exercise), keep blood pressure below target (log readings), prevent stroke (track medication adherence and activity), and reduce inflammation (log anti-inflammatory foods and exercise). Create reminders for regular eye exams every 6-12 months.
  • Create a dashboard showing trends in BMI, blood pressure, and inflammation markers over 3-6 month periods. Correlate these with eye exam results and vision changes. Set alerts if any risk factor moves into the high-risk range. Share this data with your doctor to adjust diabetes and health management plans proactively.

This research identifies potential genetic targets and risk factors for diabetic retinopathy but does not describe available treatments. The findings are based on genetic analysis and observational data, not clinical trials. Gene-based treatments mentioned are theoretical and not yet available for patients. If you have diabetes or concerns about your vision, consult your doctor or eye specialist for personalized advice. Do not delay or change your current diabetes management based on this research. Regular eye exams and control of known risk factors (weight, blood pressure, blood sugar) remain the most effective current prevention strategies.