What you carry at this position in your DNA and what research says about it.
Hernia and Prolapse Risk: 8/10 evidence, 25 publications.
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Sample genotype (not yours): C/C
Typical Hernia and Prolapse Risk
This genotype carries two copies of the common C allele, representing the baseline genetic risk for hernias and pelvic organ prolapse. It is also associated with a slightly taller stature and typical abdominal fat distribution.
What this genotype means: Typical risk of abdominal hernias; Typical risk of pelvic organ prolapse; Slightly taller stature.
Sample genotype (not yours): C/T
Reduced Hernia and Prolapse Risk
Carrying one copy of the protective T allele is linked to stronger connective tissues and a lower risk of hernias and pelvic organ prolapse. It is also associated with slightly lower waist circumference and typical height.
What this genotype means: Lower risk of abdominal hernias; Lower risk of pelvic organ prolapse; Slightly lower waist circumference.
Sample genotype (not yours): T/T
Lowest Hernia and Prolapse Risk
Carrying two copies of the protective T allele is associated with the strongest connective tissue support, offering the lowest risk of hernias and pelvic organ prolapse. It is also linked to a leaner waist circumference.
What this genotype means: Lowest risk of abdominal hernias; Lowest risk of pelvic organ prolapse; Lower waist circumference.
Gene function and biological role
Gene Function: The EFEMP1 gene encodes fibulin-3, an extracellular matrix glycoprotein that plays a critical role in maintaining the structural integrity of elastic fibers and connective tissues throughout the body. It is widely expressed in tissues subject to mechanical stress, including the pelvic floor, abdominal wall, and blood vessels. Fibulin-3 helps regulate cell migration, tissue remodeling, and the assembly of elastic fibers. Alterations in EFEMP1 expression can lead to weakened connective tissue, predisposing individuals to hernias and organ prolapse [1]. Additionally, rare mutations in this gene are known to cause Malattia Leventinese, an inherited macular dystrophy characterized by abnormal deposits under the retina [2].
Variant Impact: The rs3791675 variant is an intronic change within the EFEMP1 gene that influences its expression levels. This genetic variation affects the strength and elasticity of connective tissues, particularly in the pelvic and abdominal regions. The C allele is associated with higher expression or altered regulation that slightly weakens these supportive tissues, leading to a higher susceptibility to hernias and pelvic organ prolapse [3]. Conversely, the T allele appears to confer structural resilience, offering protection against tissue herniation [1]. This variant also has pleiotropic effects, influencing overall skeletal growth and body fat distribution [4].
Key Insight: A single genetic spelling change in the EFEMP1 gene simultaneously influences your risk for physical hernias, pelvic organ support, and adult height by altering the elasticity of your body's connective tissues.
Location: EFEMP1. Chromosome 2 · 2p16.1 · 55.9 Mb
Estimated prevalence by population
Global 63.3%; European 56.3%; African 86.9%; East Asian 5.9%; South Asian 53.1%; Americas 60.8%; Ashkenazi 54.8%; Finnish 59.2%; Middle Eastern 44.4%; Amish 38.0%.
Estimated CC genotype frequency.
Global 30.3%; European 37.5%; African 12.7%; East Asian 36.9%; South Asian 39.5%; Americas 34.4%; Ashkenazi 38.5%; Finnish 35.5%; Middle Eastern 44.4%; Amish 47.3%.
Estimated CT genotype frequency.
Global 6.3%; European 6.2%; African 0.5%; East Asian 57.2%; South Asian 7.4%; Americas 4.9%; Ashkenazi 6.7%; Finnish 5.3%; Middle Eastern 11.1%; Amish 14.7%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Endocrine & Reproductive
Female Reproductive Health & Fertility
Pelvic Organ Prolapse. Evidence: 8/10. Source: PMID 32184442. Typical Risk.
Rare Genetic Disorders
Connective Tissue Disorders
Hernia. Evidence: 8/10. Source: PMID 34382107. Typical Risk.
Cardiovascular & Metabolic
Obesity & Body Composition
Waist Circumference. Evidence: 8/10. Source: PMID 28448500. Typical.
Lifestyle, Fitness & Aging
Height & Body Size
Height. Evidence: 9/10. Source: PMID 18391952. Slightly Taller.
Showing effects for C/T genotype
Pelvic Organ Prolapse. Evidence: 8/10. Source: PMID 32184442. Reduced Risk.
Hernia. Evidence: 8/10. Source: PMID 34382107. Reduced Risk.
Waist Circumference. Evidence: 8/10. Source: PMID 28448500. Slightly Lower.
Height. Evidence: 9/10. Source: PMID 18391952. Typical.
Showing effects for T/T genotype
Pelvic Organ Prolapse. Evidence: 8/10. Source: PMID 32184442. Lowest Risk.
Hernia. Evidence: 8/10. Source: PMID 34382107. Lowest Risk.
Waist Circumference. Evidence: 8/10. Source: PMID 28448500. Lower.
Height. Evidence: 9/10. Source: PMID 18391952. Slightly Shorter.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Carrying two copies of the C allele is the most common genetic profile globally. This genotype is associated with a baseline level of connective tissue strength, which translates to a typical risk of developing pelvic organ prolapse [1] and various abdominal hernias, such as inguinal, femoral, and ventral hernias [2]. In terms of physical traits, the C allele is linked to slightly increased adult height and childhood growth rates [3]. It is also associated with a slightly higher waist circumference and abdominal fat accumulation compared to carriers of the protective T allele [4]. While this genotype represents the standard population baseline, maintaining core strength and a healthy weight can help support connective tissue health.
Typical risk of abdominal hernias; Typical risk of pelvic organ prolapse; Slightly taller stature.
Sample genotype: CT (Heterozygous)
Having one copy of the T allele provides a protective effect on the body's connective tissues. Studies show that carriers of this allele have a significantly reduced risk of developing pelvic organ prolapse, a condition where pelvic organs descend due to weakened support [1]. This genotype also offers protection against several types of abdominal wall hernias, including inguinal, femoral, and incisional hernias, by maintaining better tissue integrity [2]. Additionally, the T allele is associated with a slightly lower waist-to-hip ratio and reduced abdominal fat accumulation [3]. While height is slightly shorter on average compared to the C/C genotype, the difference is minimal [4]. Overall, this genetic profile supports stronger structural tissues.
Lower risk of abdominal hernias; Lower risk of pelvic organ prolapse; Slightly lower waist circumference.
Sample genotype: TT (Homozygous)
Carrying two copies of the protective T allele is associated with the highest level of structural resilience in connective tissues. This genotype provides the strongest protection against pelvic organ prolapse, helping to maintain the anatomical support of pelvic organs [1]. It also significantly lowers the risk of developing various abdominal hernias, including inguinal, femoral, ventral, and incisional hernias [2]. Furthermore, this genetic profile is linked to a more favorable body fat distribution, characterized by a lower waist circumference and reduced abdominal fat [3]. Although it is associated with a slightly shorter adult stature compared to the C/C baseline, the structural benefits to the abdominal and pelvic walls are substantial [4].
Lowest risk of abdominal hernias; Lowest risk of pelvic organ prolapse; Lower waist circumference.
Variants with shared genetic architecture
rs3791679 · EFEMP1 Gene · Chr 2 · Hernia Risk
rs3760318 · ADAP2 Gene · Chr 17 · Blood Pressure Risk
rs757608 · C17ORF82 Gene · Chr 17 · Height and Body Proportions
Adult height variants affect birth length and growth rate in children.
Content updated August 2026.
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