COL4A4 rs144624277: What Your Genotype Means
The rs144624277 variant is a specific genetic change located within the COL4A4 gene. It has been identified in research as a founder variant strongly associated with the presence of haematuria, or blood in the urine.
What each genotype means
Typical haematuria risk
This genotype represents the common, non-variant form of the COL4A4 gene at this position. It is not associated with the increased risk of haematuria observed in carriers of the founder variant.
This is the most common genotype found in the general population.
Increased haematuria risk
This genotype includes the p.Ser969Ter founder variant, which is strongly associated with glomerular haematuria. Research indicates this variant acts as a significant genetic determinant for haematuria, though clinical presentation can vary between individuals.
This genotype is rare and typically identified as a founder variant in specific populations.
Understanding the Variant and Its Location
The variant rs144624277 is a genetic marker located within the COL4A4 gene, which sits on chromosome 2. In scientific literature, this specific variant is often referred to as the p.Ser969Ter founder variant. A founder variant is a genetic mutation that appears in a population because one or more of the ancestors of that population carried the mutation. Because it is located in a gene responsible for producing structural proteins, researchers study it to understand how changes in the genetic code can alter the physical structure of tissues in the body. This variant is a primary focus in studies investigating the genetic architecture of kidney-related traits, particularly those involving the filtration system of the kidneys.
The Role of the COL4A4 Gene
The COL4A4 gene provides instructions for making one component of type IV collagen. Type IV collagen is a protein that is essential for the structure and function of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues, including the kidneys. In the kidneys, these membranes are critical for the filtration process that removes waste from the blood while keeping important proteins and blood cells inside. When the COL4A4 gene is altered, the resulting collagen protein may be defective or produced in insufficient quantities. This can compromise the integrity of the glomerular basement membrane, potentially allowing red blood cells to leak into the urine, a condition known as haematuria.
Research Associations and Evidence
Research, including large-scale genome-wide association studies (GWAS) using data from the UK Biobank, has identified rs144624277 as a significant signal for haematuria. The evidence strength for this association is considered moderate to strong in the context of population-based genetic studies. Scientists have observed that this variant contributes to the aggregate effect of rare pathogenic variants in the COL4A3 and COL4A4 genes that influence kidney health. While the association with haematuria is statistically significant, it is important to note that genetic associations are not diagnostic. The presence of this variant does not guarantee that an individual will experience clinical symptoms, as many factors, including other genetic modifiers and environmental influences, play a role in the development of kidney-related conditions.
Population Frequency and Interpretation
Information regarding the specific population frequency of rs144624277 is not widely specified in general public databases, as it is often studied as a rare or founder-specific variant. Because it is a founder variant, its prevalence is likely concentrated in specific ancestral groups where the mutation originated. Readers should understand that this information is for educational purposes only. Genetic data can provide insights into biological predispositions, but it cannot predict individual health outcomes with certainty. If you have concerns about your kidney health or family history, it is essential to consult with a healthcare professional. They can provide context based on your personal medical history and clinical testing, which are far more informative than a single genetic variant result.
How common is this variant?
The frequency of this variant is not specified in general population databases, as it is a founder variant typically found in specific ancestral groups.
Frequently asked questions
What is haematuria?
Haematuria is the medical term for the presence of blood in the urine. It can be visible to the naked eye or detectable only through microscopic examination.
Does having this variant mean I have Alport syndrome?
Not necessarily. While variants in COL4A4 are associated with Alport syndrome, the presence of a single variant does not constitute a diagnosis. Clinical diagnosis requires a comprehensive evaluation by a medical specialist.
Can I use this information to diagnose myself?
No. Genetic variants are statistical associations and not medical diagnoses. You should never use genetic data to make health decisions without consulting a doctor.
Where can I learn more about my kidney health?
You should speak with a primary care physician or a nephrologist. They can order appropriate clinical tests to assess your kidney function and address any concerns.
Sources & further reading
Educational information only, last refreshed 11/7/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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