European and japanese ethnicity
Table 2 - FLG genotyping results for patients of white European ethnicity. To assess whether the lack of association of FLG-null mutations with CAD is a true negative result or a reflection of the lack of statistical power, we performed a power calculation using Quanto 1.2 (http://biostats.usc.edu/software). Filaggrin is degraded to release amino acids in the stratum corneum and FLG mutations lead to reduction in photo-absorbing amino acids, specifically urocanic acid (UCA), a chromophore for UVB that may protect against photodamage (de Fine Olivarius et al., 1996; Mildner et al., 2010; Barresi et al., 2011). 1 Two FLG SNPs rs11584427 and rs1933064 were in complete linkage disequilibrium. 2  Atopic dermatitis (AD) with Filaggrin (FLG) mutations is associated with an increased SC IL-1 cytokine profile; this profile is also seen in a murine homologue of filaggrin deficiency. 1 Loss-of-function mutations in the gene encoding FLG are linked with IV in Northern European and Japanese populations and results here demonstrate that FLG mutations are also associated with IV in a Bangladeshi population. 1 Two novel filaggrin mutations (S1302X and Q2397X) and two recurrent mutations (3321delA and K4671X) were identified in patients with atopic asthma. 2  Copy number variation within FLG makes a significant, dose-dependent contribution to atopic dermatitis risk. 1 Loss-of-function mutations in the gene encoding FLG are linked with IV in Northern European and Japanese populations and results here demonstrate that FLG mutations are also associated with IV in a Bangladeshi population. 1 FLG mutation carriers with self-reported dermatitis have an increased risk of contact sensitization to substances other than nickel, whereas FLG mutations alone may not, or may only slightly, increase the risk of sensitization. 1 Loss-of-function mutations in the gene encoding FLG are linked with IV in Northern European and Japanese populations and results here demonstrate that FLG mutations are also associated with IV in a Bangladeshi population. DNA samples were analyzed for FLG mutations within the CAD cases of white European ethnicity and in 100 Scottish population-matched controls. The four most prevalent FLG loss-of-function mutations in this population were screened (R501X, 2282del4, R2247X, and S3247X) as previously described (Kezic et al., 2011). Filaggrin is degraded to release amino acids in the stratum corneum and FLG mutations lead to reduction in photo-absorbing amino acids, specifically urocanic acid (UCA), a chromophore for UVB that may protect against photodamage (de Fine Olivarius et al., 1996; Mildner et al., 2010; Barresi et al., 2011). Loss-of-function mutations in the gene encoding filaggrin (FLG) are associated with skin barrier dysfunction and increased risk of atopic eczema (Palmer et al., 2006; Baurecht et al., 2007). Filaggrin is degraded to release amino acids in the stratum corneum and FLG mutations lead to reduction in photo-absorbing amino acids, specifically urocanic acid (UCA), a chromophore for UVB that may protect against photodamage (de Fine Olivarius et al., 1996; Mildner et al., 2010; Barresi et al., 2011). 1 Atopic dermatitis (AD) with Filaggrin (FLG) mutations is associated with an increased SC IL-1 cytokine profile; this profile is also seen in a murine homologue of filaggrin deficiency. 2  FLG mutations increase the risk for persistent dry skin, persistent eczema, and AE and non-AE at age 8 years. 1 Loss-of-function mutations in the gene encoding FLG are linked with IV in Northern European and Japanese populations and results here demonstrate that FLG mutations are also associated with IV in a Bangladeshi population.
http://www.nature.com/jid/journal/v135/n7/full/jid201564a.html http://www.ncbi.nlm.nih.gov/gene/2312 http://www.ncbi.nlm.nih.gov/gene/2312 http://www.ncbi.nlm.nih.gov/gene/2312 http://www.nature.com/jid/journal/v135/n7/full/jid201564a.html http://www.nature.com/jid/journal/v135/n7/full/jid201564a.html http://www.ncbi.nlm.nih.gov/gene/2312
flg mutation ethnicity