What you carry at this position in your DNA and what research says about it.
COPD and Inflammatory Risk: 6/10 evidence, 45 publications.
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Sample genotype (not yours): C/C
Typical Disease Risks with Higher COPD Susceptibility
Baseline levels of the protective decoy receptor sRAGE are highest with this genetic profile, offering natural defense against several inflammatory conditions. However, susceptibility to chronic obstructive pulmonary disease (COPD) is slightly elevated compared to other profiles.
What this genotype means: Typical risk of cancer and diabetic complications; Slightly higher risk of COPD.
Sample genotype (not yours): C/T
Better Lung Function but Higher Inflammatory Risks
Enhanced lung capacity and a lower risk of chronic obstructive pulmonary disease (COPD) characterize this genetic profile. However, it is accompanied by a moderate increase in the risks of gastric cancer and coronary events.
What this genotype means: Lower risk of COPD and better lung function; Moderately increased risk of gastric cancer and coronary events.
Sample genotype (not yours): T/T
Optimal Lung Function with Elevated Inflammatory Risks
Maximum protection against chronic obstructive pulmonary disease (COPD) is paired with the highest baseline lung function. However, this profile carries significantly elevated risks for diabetic complications, coronary events, and gastric cancer.
What this genotype means: Significantly higher risk of diabetic retinopathy and nephropathy; Increased risk of gastric cancer and coronary events; Strong protection against COPD.
Gene function and biological role
Gene Function: The AGER gene encodes the receptor for advanced glycation end-products (RAGE), a cell-surface receptor belonging to the immunoglobulin superfamily [1]. RAGE plays a central role in inflammatory and immune responses by binding various ligands, including advanced glycation end-products (AGEs) and S100/calgranulins [1]. This interaction triggers signaling cascades that promote chronic inflammation and oxidative stress, which are implicated in vascular complications and tissue damage [1]. A soluble form of the receptor, known as sRAGE, acts as a protective decoy by binding ligands before they can activate cell-bound RAGE [2]. Consequently, circulating sRAGE levels serve as an important biomarker for inflammatory and metabolic diseases [3].
Variant Impact: The rs2070600 variant is a missense mutation in exon 3 of the AGER gene that results in a glycine-to-serine amino acid substitution at position 82 (p.Gly82Ser) [1]. This specific change occurs within the ligand-binding domain of the receptor, significantly enhancing its affinity for pro-inflammatory ligands [4]. At the same time, the serine-encoding T allele alters splicing and reduces the production of the protective soluble decoy receptor, sRAGE [5]. This dual effect of increased receptor activity and decreased protective decoy levels leads to heightened systemic inflammation [6]. Consequently, this variant is a major genetic determinant of circulating sRAGE levels and influences susceptibility to multiple inflammatory and vascular conditions [4].
Key Insight: The same genetic variant that protects your lungs from chronic disease can simultaneously increase your risk for heart and diabetic complications.
Location: AGER. Chromosome 6 · 6p21.32 · 32.2 Mb
Estimated prevalence by population
Global 92.5%; European 91.1%; African 98.0%; East Asian 63.0%; South Asian 88.2%; Americas 98.0%; Ashkenazi 98.0%; Finnish 86.5%; Middle Eastern 98.6%; Amish 91.6%.
Estimated CC genotype frequency.
Global 7.2%; European 8.7%; African 2.0%; East Asian 32.7%; South Asian 11.5%; Americas 1.9%; Ashkenazi 1.9%; Finnish 13.1%; Middle Eastern 1.4%; Amish 8.2%.
Estimated CT genotype frequency.
Global 0.3%; European 0.2%; African < 0.1%; East Asian 4.2%; South Asian 0.4%; Americas < 0.1%; Ashkenazi < 0.1%; Finnish 0.5%; Middle Eastern < 0.1%; Amish 0.2%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Organ Systems
Vision & Eye Health
Diabetic Retinopathy. Evidence: 3/10. Source: PMID 21067572. Typical Risk.
Respiratory Health
COPD. Evidence: 6/10. Source: PMID 28166215. ~1.2x Higher Risk.
Lung Function. Evidence: 10/10. Source: PMID 20010834. Typical.
Cancer & Oncology
Gastrointestinal Cancers
Gastric Cancer. Evidence: 7/10. Source: PMID 18519797. Typical Risk.
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 6/10. Source: PMID 38773223. Typical Risk.
Showing effects for C/T genotype
COPD. Evidence: 6/10. Source: PMID 28166215. Lower Risk.
Lung Function. Evidence: 10/10. Source: PMID 20010834. Slightly Better.
Gastric Cancer. Evidence: 7/10. Source: PMID 18519797. ~1.5x Higher Risk.
Coronary Artery Disease. Evidence: 6/10. Source: PMID 38773223. Increased Risk.
Showing effects for T/T genotype
Diabetic Retinopathy. Evidence: 3/10. Source: PMID 21067572. ~2.4x Higher Risk.
Lung Function. Evidence: 10/10. Source: PMID 20010834. Better.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
The C/C genotype represents the most common genetic baseline globally. High circulating levels of soluble RAGE (sRAGE) act as a protective decoy to neutralize inflammatory molecules [1]. Because of these robust decoy levels, there is a lower risk of developing inflammatory complications such as diabetic retinopathy [2] and diabetic nephropathy [3]. The risk of gastric cancer is also at the typical baseline level [4]. Conversely, this baseline state is associated with a higher susceptibility to chronic obstructive pulmonary disease (COPD) [5]. Large-scale genomic studies show that individuals with this profile have a slightly lower FEV1/FVC ratio, indicating reduced baseline lung function compared to those carrying the T allele [6]. Despite the elevated lung risks, the overall cardiovascular and metabolic risk profile remains at the typical population average [7].
Typical risk of cancer and diabetic complications; Slightly higher risk of COPD.
Sample genotype: CT (Heterozygous)
The C/T genotype represents a classic genetic trade-off between respiratory health and systemic inflammation. On the positive side, this profile is strongly associated with better lung function, characterized by a higher FEV1/FVC ratio [1]. The risk of developing chronic obstructive pulmonary disease (COPD) is also significantly reduced [2]. On the negative side, the single serine-encoding allele leads to a notable reduction in circulating levels of the protective decoy receptor sRAGE [3]. This reduction allows pro-inflammatory molecules to bind more freely to cell-surface receptors, promoting vascular inflammation [4]. Consequently, there is a moderately increased risk of coronary events [4]. Additionally, this profile is linked to a roughly 1.5-fold higher risk of developing gastric cancer [5]. Diabetic complications, however, are generally not elevated unless two copies of the variant are present [6].
Lower risk of COPD and better lung function; Moderately increased risk of gastric cancer and coronary events.
Sample genotype: TT (Homozygous)
The T/T genotype represents the most pronounced expression of the Gly82Ser trade-off. Circulating levels of the protective decoy receptor sRAGE are at their lowest, which significantly increases systemic inflammatory activity [1]. This heightened inflammatory state is linked to a 2-fold higher risk of diabetic retinopathy [2] and a more than 3-fold risk of advanced diabetic nephropathy in those with diabetes [3]. The risk of coronary events is also elevated due to increased vascular inflammation [4]. Furthermore, there is an estimated 1.5-fold increase in the risk of gastric cancer [5]. In stark contrast to these systemic risks, respiratory health is highly optimized. This profile is associated with the highest FEV1/FVC ratios and the lowest susceptibility to chronic obstructive pulmonary disease (COPD) [6]. The genetic protection against airway obstruction is highly replicated across diverse populations [7].
Significantly higher risk of diabetic retinopathy and nephropathy; Increased risk of gastric cancer and coronary events; Strong protection against COPD.
Variants with shared genetic architecture
rs1800625 · AGER Gene · Chr 6 · Diabetic Complications Risk
rs1800624 · AGER Gene · Chr 6 · Inflammatory and Heart Health
rs10434 · VEGFA Gene · Chr 6 · Diabetic Retinopathy Risk
Pathological Implications of Receptor for Advanced Glycation End-Product (AGER) Gene Polymorphism.
Plasma Soluble Receptor for Advanced Glycation End Products in Idiopathic Pulmonary Fibrosis.
Genome-wide association study identifies five loci associated with lung function.
Content updated August 2026.
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