What you carry at this position in your DNA and what research says about it.
Hernia Risk: 10/10 evidence, 37 publications.
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Sample genotype (not yours): A/A
Higher Hernia and Atrial Fibrillation Risk
Lower levels of fibulin-3 lead to more flexible but weaker connective tissues. This increases the likelihood of developing hernias while offering protection against carpal tunnel syndrome.
What this genotype means: Increased risk of inguinal and abdominal hernias; Slightly higher risk of atrial fibrillation; Lower risk of carpal tunnel syndrome.
Sample genotype (not yours): A/G
Typical Hernia and Carpal Tunnel Risk
An intermediate level of fibulin-3 provides a balanced mix of tissue flexibility and strength. Risks for both hernias and carpal tunnel syndrome remain close to the population average.
What this genotype means: Typical risk of hernias; Typical risk of carpal tunnel syndrome; Average adult height.
Sample genotype (not yours): G/G
Lower Hernia Risk but Higher Carpal Tunnel Risk
Higher levels of fibulin-3 create denser, stronger connective tissues. This protects against hernias but increases the risk of nerve compression in the wrist.
What this genotype means: Reduced risk of inguinal and abdominal hernias; Increased risk of carpal tunnel syndrome; Slightly shorter average stature.
Gene function and biological role
Gene Function: The EFEMP1 gene encodes fibulin-3, a secreted extracellular matrix glycoprotein that belongs to the fibulin family. This protein is essential for maintaining the structural integrity and elasticity of connective tissues throughout the body. It is widely expressed in tissues that require high elasticity and strength, such as the abdominal wall, blood vessels, and lungs. Fibulin-3 plays a critical role in organizing elastic fibers and regulating cell migration and tissue remodeling. Variations in this gene can alter the density and flexibility of the extracellular matrix, impacting various physical traits and disease susceptibilities.
Variant Impact: The rs3791679 variant is an intronic genetic change located within an enhancer region of the EFEMP1 gene. This variation directly influences the expression levels of the fibulin-3 protein, thereby altering the physical properties of connective tissues. The G allele is associated with higher expression of fibulin-3, which leads to denser and stiffer extracellular matrix structures. Conversely, the A allele is linked to lower expression, resulting in more flexible but structurally weaker connective tissues. This difference in tissue tension drives a biological trade-off between tissue tearing and nerve compression.
Key Insight: This variant controls a biological trade-off where having more flexible connective tissue increases hernia risk but protects against carpal tunnel syndrome, while stiffer tissue does the opposite.
Location: EFEMP1. Chromosome 2 · 2p16.1 · 55.9 Mb
Estimated prevalence by population
Global 64.3%; European 57.8%; African 87.4%; East Asian 5.8%; South Asian 52.5%; Americas 61.3%; Ashkenazi 56.1%; Finnish 59.8%; Middle Eastern 46.7%; Amish 39.4%.
Estimated AA genotype frequency.
Global 29.7%; European 36.5%; African 12.2%; East Asian 36.6%; South Asian 39.9%; Americas 34.0%; Ashkenazi 37.6%; Finnish 35.0%; Middle Eastern 43.3%; Amish 46.7%.
Estimated AG genotype frequency.
Global 6.1%; European 5.8%; African 0.4%; East Asian 57.6%; South Asian 7.6%; Americas 4.7%; Ashkenazi 6.3%; Finnish 5.1%; Middle Eastern 10.0%; Amish 13.9%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Rare Genetic Disorders
Connective Tissue Disorders
Hernia. Evidence: 10/10. Source: PMID 34382107. Increased Risk.
Organ Systems
Bone, Joint & Connective Tissue Health
Carpal Tunnel Syndrome. Evidence: 9/10. Source: PMID 30833571. Reduced Risk.
Lifestyle, Fitness & Aging
Height & Body Size
Height. Evidence: 10/10. Source: PMID 18391951. Taller Stature.
Cardiovascular & Metabolic
Heart Rhythm & Conduction
Atrial Fibrillation. Evidence: 6/10. Source: PMID 40645996. Increased Risk.
Showing effects for A/G genotype
Hernia. Evidence: 10/10. Source: PMID 34382107. Typical Risk.
Carpal Tunnel Syndrome. Evidence: 9/10. Source: PMID 30833571. Typical Risk.
Height. Evidence: 10/10. Source: PMID 18391951. Typical Height.
Atrial Fibrillation. Evidence: 6/10. Source: PMID 40645996. Typical Risk.
Showing effects for G/G genotype
Hernia. Evidence: 10/10. Source: PMID 34382107. Reduced Risk.
Carpal Tunnel Syndrome. Evidence: 9/10. Source: PMID 30833571. Increased Risk.
Height. Evidence: 10/10. Source: PMID 18391951. Shorter Stature.
Atrial Fibrillation. Evidence: 6/10. Source: PMID 40645996. Reduced Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Lower expression of the EFEMP1 gene results in reduced levels of the structural protein fibulin-3. This reduction makes the extracellular matrix and connective tissues throughout the body more flexible but structurally weaker. Consequently, there is a significantly higher risk of developing various types of hernias, including inguinal, abdominal wall, and incisional hernias, as the tissue is more prone to tearing under pressure [1]. This tissue laxity is also associated with a slightly higher risk of atrial fibrillation [2]. On the positive side, the more flexible tissue in the wrist reduces the likelihood of median nerve compression, resulting in a lower risk of carpal tunnel syndrome [3]. Additionally, this genotype is consistently associated with a taller adult stature across multiple populations [4].
Increased risk of inguinal and abdominal hernias; Slightly higher risk of atrial fibrillation; Lower risk of carpal tunnel syndrome.
Sample genotype: AG (Heterozygous)
An intermediate level of fibulin-3 protein expression is maintained, balancing tissue strength and flexibility. The connective tissues are neither excessively stiff nor overly weak, resulting in average susceptibility to structural tissue issues. The risk of developing inguinal, abdominal, or incisional hernias is typical for the general population [1]. Similarly, the risk of experiencing median nerve compression in the wrist, which causes carpal tunnel syndrome, remains at baseline levels [2]. Adult height and overall body measurements are also likely to fall near the population average [3]. This balanced genetic profile avoids the elevated risks of tissue tearing on one end and nerve compression on the other.
Typical risk of hernias; Typical risk of carpal tunnel syndrome; Average adult height.
Sample genotype: GG (Homozygous)
Increased expression of the EFEMP1 gene leads to higher levels of the structural protein fibulin-3. This abundance promotes denser, stiffer, and structurally stronger connective tissues and extracellular membranes. As a result, the risk of developing inguinal, abdominal wall, and incisional hernias is significantly reduced, as the tissues resist tearing and protrusion [1]. However, this increased tissue density can lead to thickening of the connective tissues in confined spaces. In the wrist, this thickening can compress the median nerve, resulting in a higher susceptibility to carpal tunnel syndrome [2]. Additionally, this genotype is associated with a slightly shorter average adult stature and a lower risk of atrial fibrillation.
Reduced risk of inguinal and abdominal hernias; Increased risk of carpal tunnel syndrome; Slightly shorter average stature.
Variants with shared genetic architecture
rs3791675 · EFEMP1 Gene · Chr 2 · Hernia and Prolapse Risk
rs6763931 · ZBTB38 Gene · Chr 3 · Adult Height
rs72755233 · ADAMTS17 Gene · Chr 15 · Eye Pressure
Content updated August 2026.
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