rs11228623: Understanding the Genetics of Olfactory Dysfunction
The genetic variant rs11228623 is a single nucleotide polymorphism (SNP) located at the 11q12 genomic locus. Recent research identifies this variant as a genome-wide significant marker associated with olfactory dysfunction, or a reduced ability to identify smells.
What each genotype means
Typical olfactory function
This genotype represents the common version of the variant at the 11q12 locus. Research indicates that individuals with this genotype do not carry the specific genetic marker associated with increased risk of olfactory dysfunction identified in recent genome-wide association studies.
This is the most common genotype observed in populations of European ancestry.
Increased olfactory dysfunction risk
Carrying one copy of the T allele is associated with a statistically significant increase in the risk of olfactory dysfunction. While this association is genome-wide significant, it is a complex trait influenced by many factors, and this result does not mean you will experience smell loss.
This heterozygous genotype is found at a moderate frequency in populations of European ancestry.
Higher olfactory dysfunction risk
Carrying two copies of the T allele is associated with the highest statistical risk for olfactory dysfunction among the genotypes for this variant. Because smell perception is influenced by many environmental and genetic factors, this finding should be viewed as a predisposition rather than a diagnosis.
This homozygous genotype is the least common of the three in populations of European ancestry.
What is rs11228623?
The variant rs11228623 is a single nucleotide polymorphism, which is a variation at a single position in the DNA sequence. It is located in an intergenic region on chromosome 11, specifically at the 11q12 locus. In genomics, intergenic variants are those that reside in the DNA sequences between genes rather than within the genes themselves. While this variant does not sit inside a protein-coding gene, its location is significant because it resides in a region of the genome that is highly enriched for olfactory receptor genes. These genes are responsible for the sensory perception of smell. Researchers use SNPs like rs11228623 as 'tags' or markers to help identify specific areas of the genome that may influence complex human traits, such as the ability to detect and identify various odors.
Research and Associations
Recent large-scale genome-wide association study (GWAS) meta-analyses have identified rs11228623 as a novel, genome-wide significant locus for olfactory dysfunction. By assessing participants using standardized smell identification tests, researchers found that this variant is statistically linked to a decreased ability to identify odors. The evidence for this association is considered robust, as the findings remained consistent across multi-ancestry analyses. Beyond smell, phenome-wide association studies have suggested that genetic variants in this region may also correlate with other health metrics, including blood cell counts, kidney function, skeletal muscle mass, and cholesterol levels. Using Mendelian Randomization, scientists have explored whether these associations indicate a causal link between olfactory dysfunction and these broader physiological traits, suggesting that the sense of smell may be more deeply integrated into overall human health than previously understood.
Understanding the Evidence
The association between rs11228623 and olfactory dysfunction is based on statistical correlations observed in large population-based studies. While the association is genome-wide significant, it is important to remember that genetic associations are not the same as medical diagnoses. Olfactory dysfunction can be caused by many factors, including environmental exposures, infections, and aging, in addition to genetic predispositions. The current research provides valuable insights into the biological architecture of the sense of smell, but it does not mean that carrying a specific genotype for this SNP will guarantee a particular outcome. The findings are intended to help researchers better understand the biological pathways involved in sensory perception. As with any genetic information, these results should be viewed as a piece of a much larger, complex puzzle regarding human health and sensory function.
What You Can Do With This Information
Genetic information regarding variants like rs11228623 is primarily intended for educational and research purposes. Because this variant is associated with a complex trait rather than a single-gene disorder, it cannot be used to predict or diagnose a medical condition. If you have concerns about your sense of smell or any other health issues, the most appropriate step is to consult with a healthcare professional, such as an otolaryngologist (ear, nose, and throat specialist). They can perform clinical evaluations that are far more accurate than genetic testing for assessing sensory function. Do not use genetic data to make decisions about your health, diet, or medical treatments. Always rely on clinical assessments and professional medical advice for any health-related concerns, as genetic markers are only one of many factors that influence how our bodies function.
How common is this variant?
The frequency of the T and C alleles for rs11228623 varies across different ancestral populations, though specific global percentages are not detailed in the primary GWAS literature.
Frequently asked questions
Does having the rs11228623 variant mean I will lose my sense of smell?
No. This variant is associated with a statistical difference in smell identification performance across large populations, but it is not a diagnostic tool for individual health. Many factors, including environment and age, play a much larger role in your sense of smell.
Is rs11228623 a gene?
No, rs11228623 is a single nucleotide polymorphism (SNP) located in an intergenic region, meaning it sits in the DNA between genes. It serves as a marker for a region of the genome that contains many olfactory receptor genes.
Can I use this information to diagnose a medical condition?
No. Genetic variants identified in GWAS are for research and educational purposes. They cannot be used to diagnose, treat, or prevent any medical condition.
What should I do if I am worried about my sense of smell?
If you are concerned about your sense of smell, you should consult a healthcare provider, such as an ear, nose, and throat specialist. They can perform clinical tests to evaluate your olfactory function.
Sources & further reading
Educational information only, last refreshed 11/2/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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