What you carry at this position in your DNA and what research says about it.
Eczema and Dry Skin: 10/10 evidence, 26 publications.
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Sample genotype (not yours): G/G
Typical Skin Barrier and Baseline Eczema Risk
Normal filaggrin production maintains a strong, hydrated skin barrier. This genotype is associated with a typical baseline risk for dry skin, eczema, and related allergic conditions.
What this genotype means: Typical skin barrier function; Baseline risk for eczema and asthma.
Sample genotype (not yours): A/A
High Risk of Severe Dry Skin and Eczema
Inheriting two copies of the mutated gene completely halts functional filaggrin production. This leads to a severe, persistent form of dry, scaly skin and a very high risk of eczema and asthma.
What this genotype means: Severe skin barrier defect; High risk of ichthyosis vulgaris; Very high risk of persistent eczema and asthma.
Sample genotype (not yours): G/A
Increased Risk of Dry Skin and Eczema
Carrying one copy of the mutated gene reduces filaggrin production by about half. This often leads to dry, flaky skin and significantly elevates the risk of developing eczema and asthma.
What this genotype means: Reduced skin barrier function; Higher risk of eczema and dry skin; Increased susceptibility to asthma.
Gene function and biological role
Gene Function: Filaggrin, encoded by the FLG gene, is a structural protein that is absolutely essential for the formation and maintenance of the outer skin barrier [1]. It helps bind keratin fibers together to flatten and strengthen the outermost cells of the epidermis [1]. During its natural breakdown, filaggrin releases amino acids that act as natural moisturizing factors, keeping the skin hydrated and maintaining an acidic pH that deters pathogens [2]. When filaggrin is deficient, the skin barrier becomes leaky, allowing moisture to escape and environmental allergens or irritants to easily penetrate [3]. This exposure can trigger an overactive immune response, leading to chronic inflammation and allergic sensitization [3].
Variant Impact: The rs61816761 variant, also known as p.Arg501Ter or R501X, introduces a premature stop signal in the FLG gene, halting the production of functional filaggrin protein [1]. This loss-of-function mutation results in a severely depleted supply of filaggrin in the outer layers of the skin [1]. Lacking this crucial protein, the skin struggles to retain water and is highly susceptible to environmental irritants [3]. This specific genetic change is one of the most common and well-studied filaggrin mutations in populations of European ancestry [4]. It is strongly associated with the development of dry, scaly skin conditions and chronic eczema [4].
Key Insight: A leaky skin barrier can prime the immune system to develop asthma and allergies later in life, a process known as the atopic march.
Location: FLG. Chromosome 1 · 1q21.3 · 152.3 Mb
Estimated prevalence by population
Global 97.9%; European 96.6%; African 99.0%; East Asian 100.0%; South Asian 99.8%; Americas 98.4%; Ashkenazi 97.7%; Finnish 99.6%; Middle Eastern 100.0%; Amish 98.9%.
Estimated GG genotype frequency.
Global 2.1%; European 3.4%; African 1.0%; East Asian 0.0%; South Asian 0.2%; Americas 1.6%; Ashkenazi 2.3%; Finnish 0.4%; Middle Eastern 0.0%; Amish 1.1%.
Estimated GA genotype frequency.
Global < 0.1%; European < 0.1%; African < 0.1%; East Asian 0.0%; South Asian < 0.1%; Americas < 0.1%; Ashkenazi < 0.1%; Finnish < 0.1%; Middle Eastern 0.0%; Amish < 0.1%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Organ Systems
Skin & Hair Conditions
Eczema. Evidence: 10/10. Source: PMID 16550169. Typical Risk.
Dry Skin. Evidence: 10/10. Source: PMID 16444271. Typical.
Respiratory Health
Asthma. Evidence: 10/10. Source: PMID 19501237. Typical Risk.
Immunity & Inflammation
Allergy & Hypersensitivity
Allergic Disease. Evidence: 10/10. Source: PMID 16815158. Typical Risk.
Infection Susceptibility & Resistance
Fungal Skin Infection. Evidence: 8/10. Source: PMID 39024449. Typical Risk.
Showing effects for A/A genotype
Eczema. Evidence: 10/10. Source: PMID 16550169. Highly Increased Risk.
Dry Skin. Evidence: 10/10. Source: PMID 16444271. Severe Dryness.
Asthma. Evidence: 10/10. Source: PMID 19501237. ~2x Higher Risk.
Allergic Disease. Evidence: 10/10. Source: PMID 16815158. Highly Increased Risk.
Fungal Skin Infection. Evidence: 8/10. Source: PMID 39024449. Highly Increased Risk.
Showing effects for G/A genotype
Eczema. Evidence: 10/10. Source: PMID 16550169. Increased Risk.
Dry Skin. Evidence: 10/10. Source: PMID 16444271. Mild Dryness.
Asthma. Evidence: 10/10. Source: PMID 19501237. ~1.3x Higher Risk.
Allergic Disease. Evidence: 10/10. Source: PMID 16815158. Increased Risk.
Fungal Skin Infection. Evidence: 8/10. Source: PMID 39024449. Increased Risk.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Healthy skin relies on a fully functional outer barrier to lock in moisture and block out environmental irritants. Having two functional copies of the FLG gene ensures normal production of the filaggrin protein, which is essential for skin hydration and defense [1]. This baseline state helps protect against the excessive dryness and flaking characteristic of ichthyosis vulgaris [1]. It also maintains a strong physical shield that prevents allergens from easily penetrating the skin and triggering the immune system [2]. Consequently, there is no genetically elevated risk for eczema, asthma, or the broader allergic march [3]. Standard moisturizing and skin care routines are typically sufficient to maintain healthy skin barrier function. This genotype is the most common globally and represents the typical baseline for skin health. Maintaining a simple, consistent skincare routine helps preserve this natural barrier over time.
Typical skin barrier function; Baseline risk for eczema and asthma.
Sample genotype: AA (Homozygous)
Complete absence of functional filaggrin protein occurs when both copies of the gene carry this loss-of-function mutation [1]. Without filaggrin, the skin is unable to form a proper outer barrier, resulting in severe, year-round dry and scaly skin known as ichthyosis vulgaris [1]. The skin barrier is highly permeable, allowing rapid water loss and making it incredibly easy for external allergens to penetrate [2]. This severe barrier defect is a major predisposing factor for persistent, hard-to-treat eczema that often begins in early childhood [2]. It also dramatically increases the risk of developing asthma and multiple environmental allergies [3]. Intensive skin care regimens, including thick emollients and specialized barrier creams, are typically required to manage this condition. Consulting a dermatologist can provide access to targeted therapies that support the skin barrier. Proactive management is key to minimizing discomfort and preventing secondary skin infections.
Severe skin barrier defect; High risk of ichthyosis vulgaris; Very high risk of persistent eczema and asthma.
Sample genotype: GA (Heterozygous)
A single copy of this loss-of-function mutation reduces the amount of functional filaggrin protein in the skin by approximately fifty percent [1]. This reduction impairs the skin's natural moisturizing system, frequently causing mild, seasonal dryness or a subclinical form of ichthyosis vulgaris [1]. Because the physical barrier is compromised, environmental allergens and irritants can easily slip through the outer layers of the skin [2]. This exposure often primes the immune system, leading to chronic inflammatory conditions like eczema [2]. It also increases the likelihood of developing asthma and other allergic sensitivities, a progression known as the atopic march [3]. Using rich, barrier-repairing moisturizers and avoiding harsh soaps can help manage these symptoms. Many individuals with this genotype only experience dry skin during cold winter months. Early intervention with proper skincare can significantly reduce the likelihood of developing more severe eczema flare-ups.
Reduced skin barrier function; Higher risk of eczema and dry skin; Increased susceptibility to asthma.
Variants with shared genetic architecture
rs20541 · IL13 Gene · Chr 5 · Asthma and Eczema Risk
rs2070901 · FCER1G Gene · Chr 1 · Allergy and Asthma Risk
rs3024971 · STAT6 Gene · Chr 12 · Asthma and Allergy Risk
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.
Content updated August 2026.
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