Gene mutation predicts complications of lung transplantation

Scientists have identified a gene mutation that can significantly increase the risk of life-threatening complications in patients with lung transplants.

The findings can help doctors identify high-risk patients before surgery and tailor treatment plans to improve prognosis.

Researchers at Pashan National University analyzed genetic data from lung transplant recipients and found that patients carrying FCGBP gene variants face significantly higher rates of organ rejection, infection and devastating disease called bronchitis occlusion syndrome (BOS). These findings are published in the Journal of Heart and Lung Transplantation.

“We found a specific genetic variant in a gene called FCGBP that is closely related to bronchioles occlusion syndrome and adverse outcomes after lung transplantation,” explained Assistant Professor Yun Hak Kim.

Hidden genetic risk factors

BOS affects up to half of lung transplant patients within five years after surgery. This condition leads to airway stenosis and scarring, leading to dyspnea and ultimately failure of transplantation. So far, doctors have not been able to predict which patients will develop this complication.

The team used whole genome sequencing to analyze lung tissue samples from patients with BOS after lung transplantation and stem cell transplantation. They found that mutations in the FCGBP gene appeared in both groups, indicating a shared genetic pathway.

FCGBP produces proteins in the lungs involved in mucus production and immune defense. The specific variants studied (RS1464897604) were shown to disrupt normal immune function and make patients more susceptible to complications.

Striking clinical differences

When the researchers tested genetic variation in an independent group of 84 patients with lung transplantation, the results were huge:

• 53.8% of patients with variants showed BOS, while 28.1% without it
• 44.2% of people experienced infection within one year, while the infection rate in the control group was 18.8%
• 28.8% face acute organ rejection, while 9.4% of patients with normal genes
• The variant vectors with overall mortality rate are almost three times

From discovery to clinical application

Genetic variation is particularly rare in the average Korean population, occurring in less than 0.4% of people. However, it showed that 44% of patients with BOS were present, indicating high biological significance.

Patients carrying this variant also showed a higher rate of donor-specific antibody formation, a key mechanism of organ rejection. This finding provides insight into how genetic mutations disrupt normal immune tolerance in transplanted organs.

The study shows that important details not highlighted in the press release: Patients with FCGBP variants are from donors with a higher history of smoking, suggesting a potential interaction between genetic susceptibility and environmental factors.

Personalized transplant medicine

The discovery opens up new possibilities for personalized transplant care. “By testing this genetic variant before or shortly after transplantation, doctors can adjust treatment plans, monitor patients more carefully, and take preventive measures to reduce the risk of complications such as BOS,” Kim noted.

Genetic testing can be incorporated into routine pre-transplant screening, allowing medical teams to:

• Strengthen immunosuppressive regimens for high-risk patients
• Implement more frequent surveillance schedules
• Consider preventive treatment before complexity develops
• Consult the patient’s personal risk profile

Future research will focus on understanding exactly how FCGBP mutations destroy lung immunity and develop targeted therapies. The team also plans to investigate whether blood levels of FCGBP protein can be used as a non-invasive biomarker for monitoring transplant health.

As genetic testing becomes more routine in medicine, such findings suggest how understanding how individual genetic traits can transform patient care from reactive treatment to proactive personalized medicine.

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