Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis

Winge, M; Bilcha, Kassahun Desalegn; Liedén, Agne; Shibeshi, Dagnachew; Sandilands, Aileen; Wahlgren, Carl-Fredrik; McLean, W.H. Irwin; Nordenskjöld, Magnus; Bradley, J. F. N.

doi:10.1111/j.1365-2133.2011.10475.x

Cited by 101 publications

(89 citation statements)

References 37 publications

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“…In this study, we screened the whole coding sequence of FLG gene. Interestingly, we did not detect p.R501X or c.2282del4, the most frequent mutations in Caucasians, in either 441 patients or 500 controls, implying an ethnic diVerence in the FLG mutation (Winge et al 2011a).…”

Section: Resultsmentioning

confidence: 87%

Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population

Xiong

et al. 2012

Hum Genet

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Loss-of-function mutations in filaggrin gene (FLG; OMIM #135940) have been reported to cause the semi-dominant keratinizing disorders such as ichthyosis vulgaris (IV; OMIM #146700) and atopic dermatitis (AD; OMIM #605803). Recent linkage analysis and immunohistochemical studies suggest the possible contribution of FLG to psoriatic susceptibility. However, no susceptibility variant in FLG gene associated with psoriasis (OMIM #177900) has been identified. In this study, we identified a non-sense mutation of FLG (p.K4022X) in a Chinese psoriasis/IV coexisting family. The homozygous p.K4022X mutation was detected in a psoriasis patient, whereas the heterozygous p.K4022X mutation was identified in two IV patients and four apparently normal family members. We also genotyped p.K4022X variant in 441 sporadic Chinese psoriasis patients and found homozygous mutation in two patients, while no homozygous variant was found in 500 control individuals. After sequencing the entire coding region of FLG gene in 441 psoriasis patients, we identified another five mutations (p.R826X, p.W2583X, c.7945delA, c.3321delA and p.Q2417X). Although all six FLG mutations as a whole was not significantly associated with psoriasis (P = 0.105), mutation p.K4022X was significantly associated with psoriasis (P < 0.05). Our data thus indicates an association of FLG with psoriasis in Chinese population.

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Section: Resultsmentioning

confidence: 87%

Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population

Xiong

et al. 2012

Hum Genet

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“…(43-45, 55, 56) These findings are in agreement with those of Winge et al, who also failed to detect common FLG loss-of-function mutations in people of African ancestry with AD. (55) Their report is from the largest whole-exome sequencing study of African Americans with AD suggesting that S2377X (FLG2) and Q294X (TCHHL1) variants may not be clinically important with respect to incident AD and it seems unlikely that FLG stop-gain mutations have a prominent role with respect to incident AD in African Americans children. (55,56) Whereas, the recent demonstration that FLG2 mutations increase the persistence of AD in African Americans (57) further suggests a pathogenic role for FLG2 mutations (rs12568784 and rs16833974) and supports the sequencing of FLG2in African Americans with IV with or without AD.…”

Section: -Filaggrin Genementioning

confidence: 99%

“…(55) Their report is from the largest whole-exome sequencing study of African Americans with AD suggesting that S2377X (FLG2) and Q294X (TCHHL1) variants may not be clinically important with respect to incident AD and it seems unlikely that FLG stop-gain mutations have a prominent role with respect to incident AD in African Americans children. (55,56) Whereas, the recent demonstration that FLG2 mutations increase the persistence of AD in African Americans (57) further suggests a pathogenic role for FLG2 mutations (rs12568784 and rs16833974) and supports the sequencing of FLG2in African Americans with IV with or without AD. (44) Polcari data was demonstrated a prevalence of filaggrin mutations including R501X, 2282del4, E2554X, R2447X, 1249insG, R826X, 2767insT, and E2422X in the African American population that exceeds previously published data, although the overall prevalence is still lower than in other populations.…”

Section: -Filaggrin Genementioning

confidence: 99%

Molecular Genetic of Atopic Dermatitis : An Update

Al‐Shobaili

Ahmed

Alnomair

et al. 2016

IJHS

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Atopic dermatitis (AD) is a chronic multifactorial inflammatory skin disease. The pathogenesis of AD remains unclear, but the disease results from dysfunctions of skin barrier and immune response, where both genetic and environmental factors play a key role. Recent studies demonstrate the substantial evidences that show a strong genetic association with AD. As for example, AD patients have a positive family history and have a concordance rate in twins. Moreover, several candidate genes have now been suspected that play a central role in the genetic background of AD. In last decade advanced procedures similar to genome-wide association (GWA) and single nucleotide polymorphism (SNP) have been applied on different population and now it has been clarified that AD is significantly associated with genes of innate/adaptive immune systems, human leukocyte antigens (HLA), cytokines, chemokines, drug-metabolizing genes or various other genes. In this review, we will highlight the recent advancements in the molecular genetics of AD, especially on possible functional relevance of genetic variants discovered to date.

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“…A novel filaggrin gene defect has been documented in a single Ethiopian case of AD. [16] What evolutionary advantage the skin barrier defect conveyed to the populations now exposed to environmental influences precipitating atopic disease, is unknown. …”

Section: Environmentmentioning

confidence: 99%

Aetiopathogenesis of atopic dermatitis

et al. 2014

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Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis

Abstract: Our results indicate that FLG loss-of-function-variants are less common in patients with IV and AD in the Ethiopian population, suggesting that other factors may be of importance in the pathogenesis in this ethnic group.

Cited by 101 publications

References 37 publications

Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population

Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population

Molecular Genetic of Atopic Dermatitis : An Update

Aetiopathogenesis of atopic dermatitis

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