Genetic factors associated with age-related macular degeneration modulating plasma inflammatory biomarker levels in patients with AIDS

ABSTRACT

Introduction

Patients with the acquired immunodeficiency syndrome (AIDS) have an increased prevalence and incidence of intermediate-stage age-related macular degeneration (AMD). Several elevated plasma inflammatory biomarkers are associated with increased incidence of intermediate-stage AMD in this population. We evaluated the association between AMD risk alleles and plasma inflammatory biomarker levels in persons with AIDS.

Materials and Methods

Cryopreserved plasma specimens of 229 non-Hispanic White and 252 non-Hispanic blacks from the Longitudinal Study of the Ocular Complications of AIDS cohort were assayed for plasma levels of soluble tumor necrosis factor receptor (sTNFR) 2, interleukin (IL)-18, C × 3motif chemokine ligand 1 (CX3CL1), C-reactive protein (CRP), and soluble CD14 (sCD14). Genotyping included AMD-associated variants rs10801553 and rs800292 for complement factor H (CFH) rs9332739 and rs547154 for complement factor 2 (C2), rs2230199 for C3, rs2285714 for CFI, and rs3732379 and rs3732378 for C × 3motif chemokine receptor 1 (CX3CR1).

Results

In Whites, AMD low-risk CX3CR1 variants (V249I and T280M) were associated with reduced plasma levels of IL-18. In Blacks, AMD low-risk C3 R102G and low-risk CX3CR1 T280M variants were associated with reduced CRP levels.

Conclusions

Genetic variants in AMD-associated immune genes may influence AMD-associated systemic plasma inflammatory biomarker levels in patients with AIDS.

KEYWORDS:

• Acquired immunodeficiency syndrome
• age-related macular degeneration
• genetic risk factors
• inflammatory biomarkers

Acknowledgments

The authors thank Cheryl A. Winkler, PhD, at the Frederick National Laboratory (Frederick, MD, USA) for the specimen genotyping.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Data availability statement

All data generated or analyzed during this study are included in this published article.

Additional information

Funding

Supported by grant [EY025093] from the National Eye Institute, the National Institutes of Health, Bethesda, Maryland, USA.