Epidermal differentiation complex genetic variation in atopic dermatitis and peanut allergy
Background: Deleterious variation in the epidermal differentiation complex (EDC) on chromosome 1 is a well-known genetic determinant of atopic dermatitis (AD) and has been associated with risk of peanut allergy (PA) in population-based studies.Objective: Our aim was to determine the effect of geneti...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Huffaker, Michelle F. [verfasserIn] Kanchan, Kanika [verfasserIn] Bahnson, Henry T. [verfasserIn] Ruczinski, Ingo [verfasserIn] Shankar, Gautam [verfasserIn] Leung, Donald Y.M. [verfasserIn] Baloh, Carolyn [verfasserIn] Du Toit, George [verfasserIn] Lack, Gideon [verfasserIn] Nepom, Gerald T. [verfasserIn] Mathias, Rasika A. [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2022 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: The journal of allergy and clinical immunology - Amsterdam [u.a.] : Elsevier, 1971, 151, Seite 1137-1142.e4 |
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| Übergeordnetes Werk: |
volume:151 ; pages:1137-1142.e4 |
| DOI / URN: |
10.1016/j.jaci.2022.11.008 |
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| Katalog-ID: |
ELV009504176 |
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| 024 | 7 | |a 10.1016/j.jaci.2022.11.008 |2 doi | |
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| 100 | 1 | |a Huffaker, Michelle F. |e verfasserin |0 (orcid)0000-0003-4768-5126 |4 aut | |
| 245 | 1 | 0 | |a Epidermal differentiation complex genetic variation in atopic dermatitis and peanut allergy |
| 264 | 1 | |c 2022 | |
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| 337 | |a Computermedien |b c |2 rdamedia | ||
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| 520 | |a Background: Deleterious variation in the epidermal differentiation complex (EDC) on chromosome 1 is a well-known genetic determinant of atopic dermatitis (AD) and has been associated with risk of peanut allergy (PA) in population-based studies.Objective: Our aim was to determine the effect of genetic variation in the EDC on AD trajectory and risk of PA in early life.Methods: Genome sequencing was used to measure genetic variation in the EDC in the Learning Early about Peanut Allergy (LEAP) study participants. Association tests were done to identify gene- and variant-level predicted deleterious variation associated with AD severity by using the Scoring Atopic Dermatitis (SCORAD) tool (n = 559) at baseline and each follow-up visit, as well as PA and food allergy in peanut avoiders (n = 275). Predicted deleterious variants included missense variants that were frameshift insertions, frameshift deletions, stop-gain mutations, or stop-loss mutations. Associations between variant load, SCORAD score, and PA were tested by using linear and generalized linear regression models.Results: The genes FLG, FLG2, HRNR, and TCHH1 harbored the most predicted deleterious variation (30, 6, 3, and 1 variant, respectively). FLG variants were associated with SCORAD score at all time points; 4 variants (R1798X, R501X, S126X, and S761fs) drove the association with SCORAD score at each time point, and higher variant load was associated with greater AD severity over time. There was an association between these variants and PA, which remained significant independent of baseline AD severity (odds ratio = 2.63 [95% CI = 1.11-6.01] [P = .02]).Conclusions: Variation in FLG predicted to be deleterious is associated with AD severity at baseline and longitudinally and has an association with PA independent of baseline severity. | ||
| 650 | 4 | |a Atopic dermatitis | |
| 650 | 4 | |a eczema | |
| 650 | 4 | |a peanut allergy | |
| 650 | 4 | |a genetics | |
| 650 | 4 | |a filaggrin | |
| 650 | 4 | |a epidermal differentiation complex | |
| 700 | 1 | |a Kanchan, Kanika |e verfasserin |4 aut | |
| 700 | 1 | |a Bahnson, Henry T. |e verfasserin |4 aut | |
| 700 | 1 | |a Ruczinski, Ingo |e verfasserin |4 aut | |
| 700 | 1 | |a Shankar, Gautam |e verfasserin |4 aut | |
| 700 | 1 | |a Leung, Donald Y.M. |e verfasserin |4 aut | |
| 700 | 1 | |a Baloh, Carolyn |e verfasserin |4 aut | |
| 700 | 1 | |a Du Toit, George |e verfasserin |4 aut | |
| 700 | 1 | |a Lack, Gideon |e verfasserin |4 aut | |
| 700 | 1 | |a Nepom, Gerald T. |e verfasserin |4 aut | |
| 700 | 1 | |a Mathias, Rasika A. |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t The journal of allergy and clinical immunology |d Amsterdam [u.a.] : Elsevier, 1971 |g 151, Seite 1137-1142.e4 |h Online-Ressource |w (DE-627)32045553X |w (DE-600)2006613-2 |w (DE-576)094478864 |x 1097-6825 |7 nnns |
| 773 | 1 | 8 | |g volume:151 |g pages:1137-1142.e4 |
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| 936 | b | k | |a 44.45 |j Immunologie |
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| 952 | |d 151 |h 1137-1142.e4 | ||
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2022 |
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2022 |
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10.1016/j.jaci.2022.11.008 doi (DE-627)ELV009504176 (ELSEVIER)S0091-6749(22)01566-4 DE-627 ger DE-627 rda eng 610 DE-600 44.45 bkl 44.78 bkl Huffaker, Michelle F. verfasserin (orcid)0000-0003-4768-5126 aut Epidermal differentiation complex genetic variation in atopic dermatitis and peanut allergy 2022 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Deleterious variation in the epidermal differentiation complex (EDC) on chromosome 1 is a well-known genetic determinant of atopic dermatitis (AD) and has been associated with risk of peanut allergy (PA) in population-based studies.Objective: Our aim was to determine the effect of genetic variation in the EDC on AD trajectory and risk of PA in early life.Methods: Genome sequencing was used to measure genetic variation in the EDC in the Learning Early about Peanut Allergy (LEAP) study participants. Association tests were done to identify gene- and variant-level predicted deleterious variation associated with AD severity by using the Scoring Atopic Dermatitis (SCORAD) tool (n = 559) at baseline and each follow-up visit, as well as PA and food allergy in peanut avoiders (n = 275). Predicted deleterious variants included missense variants that were frameshift insertions, frameshift deletions, stop-gain mutations, or stop-loss mutations. Associations between variant load, SCORAD score, and PA were tested by using linear and generalized linear regression models.Results: The genes FLG, FLG2, HRNR, and TCHH1 harbored the most predicted deleterious variation (30, 6, 3, and 1 variant, respectively). FLG variants were associated with SCORAD score at all time points; 4 variants (R1798X, R501X, S126X, and S761fs) drove the association with SCORAD score at each time point, and higher variant load was associated with greater AD severity over time. There was an association between these variants and PA, which remained significant independent of baseline AD severity (odds ratio = 2.63 [95% CI = 1.11-6.01] [P = .02]).Conclusions: Variation in FLG predicted to be deleterious is associated with AD severity at baseline and longitudinally and has an association with PA independent of baseline severity. Atopic dermatitis eczema peanut allergy genetics filaggrin epidermal differentiation complex Kanchan, Kanika verfasserin aut Bahnson, Henry T. verfasserin aut Ruczinski, Ingo verfasserin aut Shankar, Gautam verfasserin aut Leung, Donald Y.M. verfasserin aut Baloh, Carolyn verfasserin aut Du Toit, George verfasserin aut Lack, Gideon verfasserin aut Nepom, Gerald T. verfasserin aut Mathias, Rasika A. verfasserin aut Enthalten in The journal of allergy and clinical immunology Amsterdam [u.a.] : Elsevier, 1971 151, Seite 1137-1142.e4 Online-Ressource (DE-627)32045553X (DE-600)2006613-2 (DE-576)094478864 1097-6825 nnns volume:151 pages:1137-1142.e4 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_168 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 44.45 Immunologie 44.78 Immunkrankheiten AR 151 1137-1142.e4 |
| spelling |
10.1016/j.jaci.2022.11.008 doi (DE-627)ELV009504176 (ELSEVIER)S0091-6749(22)01566-4 DE-627 ger DE-627 rda eng 610 DE-600 44.45 bkl 44.78 bkl Huffaker, Michelle F. verfasserin (orcid)0000-0003-4768-5126 aut Epidermal differentiation complex genetic variation in atopic dermatitis and peanut allergy 2022 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Deleterious variation in the epidermal differentiation complex (EDC) on chromosome 1 is a well-known genetic determinant of atopic dermatitis (AD) and has been associated with risk of peanut allergy (PA) in population-based studies.Objective: Our aim was to determine the effect of genetic variation in the EDC on AD trajectory and risk of PA in early life.Methods: Genome sequencing was used to measure genetic variation in the EDC in the Learning Early about Peanut Allergy (LEAP) study participants. Association tests were done to identify gene- and variant-level predicted deleterious variation associated with AD severity by using the Scoring Atopic Dermatitis (SCORAD) tool (n = 559) at baseline and each follow-up visit, as well as PA and food allergy in peanut avoiders (n = 275). Predicted deleterious variants included missense variants that were frameshift insertions, frameshift deletions, stop-gain mutations, or stop-loss mutations. Associations between variant load, SCORAD score, and PA were tested by using linear and generalized linear regression models.Results: The genes FLG, FLG2, HRNR, and TCHH1 harbored the most predicted deleterious variation (30, 6, 3, and 1 variant, respectively). FLG variants were associated with SCORAD score at all time points; 4 variants (R1798X, R501X, S126X, and S761fs) drove the association with SCORAD score at each time point, and higher variant load was associated with greater AD severity over time. There was an association between these variants and PA, which remained significant independent of baseline AD severity (odds ratio = 2.63 [95% CI = 1.11-6.01] [P = .02]).Conclusions: Variation in FLG predicted to be deleterious is associated with AD severity at baseline and longitudinally and has an association with PA independent of baseline severity. Atopic dermatitis eczema peanut allergy genetics filaggrin epidermal differentiation complex Kanchan, Kanika verfasserin aut Bahnson, Henry T. verfasserin aut Ruczinski, Ingo verfasserin aut Shankar, Gautam verfasserin aut Leung, Donald Y.M. verfasserin aut Baloh, Carolyn verfasserin aut Du Toit, George verfasserin aut Lack, Gideon verfasserin aut Nepom, Gerald T. verfasserin aut Mathias, Rasika A. verfasserin aut Enthalten in The journal of allergy and clinical immunology Amsterdam [u.a.] : Elsevier, 1971 151, Seite 1137-1142.e4 Online-Ressource (DE-627)32045553X (DE-600)2006613-2 (DE-576)094478864 1097-6825 nnns volume:151 pages:1137-1142.e4 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_168 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 44.45 Immunologie 44.78 Immunkrankheiten AR 151 1137-1142.e4 |
| allfields_unstemmed |
10.1016/j.jaci.2022.11.008 doi (DE-627)ELV009504176 (ELSEVIER)S0091-6749(22)01566-4 DE-627 ger DE-627 rda eng 610 DE-600 44.45 bkl 44.78 bkl Huffaker, Michelle F. verfasserin (orcid)0000-0003-4768-5126 aut Epidermal differentiation complex genetic variation in atopic dermatitis and peanut allergy 2022 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Deleterious variation in the epidermal differentiation complex (EDC) on chromosome 1 is a well-known genetic determinant of atopic dermatitis (AD) and has been associated with risk of peanut allergy (PA) in population-based studies.Objective: Our aim was to determine the effect of genetic variation in the EDC on AD trajectory and risk of PA in early life.Methods: Genome sequencing was used to measure genetic variation in the EDC in the Learning Early about Peanut Allergy (LEAP) study participants. Association tests were done to identify gene- and variant-level predicted deleterious variation associated with AD severity by using the Scoring Atopic Dermatitis (SCORAD) tool (n = 559) at baseline and each follow-up visit, as well as PA and food allergy in peanut avoiders (n = 275). Predicted deleterious variants included missense variants that were frameshift insertions, frameshift deletions, stop-gain mutations, or stop-loss mutations. Associations between variant load, SCORAD score, and PA were tested by using linear and generalized linear regression models.Results: The genes FLG, FLG2, HRNR, and TCHH1 harbored the most predicted deleterious variation (30, 6, 3, and 1 variant, respectively). FLG variants were associated with SCORAD score at all time points; 4 variants (R1798X, R501X, S126X, and S761fs) drove the association with SCORAD score at each time point, and higher variant load was associated with greater AD severity over time. There was an association between these variants and PA, which remained significant independent of baseline AD severity (odds ratio = 2.63 [95% CI = 1.11-6.01] [P = .02]).Conclusions: Variation in FLG predicted to be deleterious is associated with AD severity at baseline and longitudinally and has an association with PA independent of baseline severity. Atopic dermatitis eczema peanut allergy genetics filaggrin epidermal differentiation complex Kanchan, Kanika verfasserin aut Bahnson, Henry T. verfasserin aut Ruczinski, Ingo verfasserin aut Shankar, Gautam verfasserin aut Leung, Donald Y.M. verfasserin aut Baloh, Carolyn verfasserin aut Du Toit, George verfasserin aut Lack, Gideon verfasserin aut Nepom, Gerald T. verfasserin aut Mathias, Rasika A. verfasserin aut Enthalten in The journal of allergy and clinical immunology Amsterdam [u.a.] : Elsevier, 1971 151, Seite 1137-1142.e4 Online-Ressource (DE-627)32045553X (DE-600)2006613-2 (DE-576)094478864 1097-6825 nnns volume:151 pages:1137-1142.e4 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_168 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 44.45 Immunologie 44.78 Immunkrankheiten AR 151 1137-1142.e4 |
| allfieldsGer |
10.1016/j.jaci.2022.11.008 doi (DE-627)ELV009504176 (ELSEVIER)S0091-6749(22)01566-4 DE-627 ger DE-627 rda eng 610 DE-600 44.45 bkl 44.78 bkl Huffaker, Michelle F. verfasserin (orcid)0000-0003-4768-5126 aut Epidermal differentiation complex genetic variation in atopic dermatitis and peanut allergy 2022 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Deleterious variation in the epidermal differentiation complex (EDC) on chromosome 1 is a well-known genetic determinant of atopic dermatitis (AD) and has been associated with risk of peanut allergy (PA) in population-based studies.Objective: Our aim was to determine the effect of genetic variation in the EDC on AD trajectory and risk of PA in early life.Methods: Genome sequencing was used to measure genetic variation in the EDC in the Learning Early about Peanut Allergy (LEAP) study participants. Association tests were done to identify gene- and variant-level predicted deleterious variation associated with AD severity by using the Scoring Atopic Dermatitis (SCORAD) tool (n = 559) at baseline and each follow-up visit, as well as PA and food allergy in peanut avoiders (n = 275). Predicted deleterious variants included missense variants that were frameshift insertions, frameshift deletions, stop-gain mutations, or stop-loss mutations. Associations between variant load, SCORAD score, and PA were tested by using linear and generalized linear regression models.Results: The genes FLG, FLG2, HRNR, and TCHH1 harbored the most predicted deleterious variation (30, 6, 3, and 1 variant, respectively). FLG variants were associated with SCORAD score at all time points; 4 variants (R1798X, R501X, S126X, and S761fs) drove the association with SCORAD score at each time point, and higher variant load was associated with greater AD severity over time. There was an association between these variants and PA, which remained significant independent of baseline AD severity (odds ratio = 2.63 [95% CI = 1.11-6.01] [P = .02]).Conclusions: Variation in FLG predicted to be deleterious is associated with AD severity at baseline and longitudinally and has an association with PA independent of baseline severity. Atopic dermatitis eczema peanut allergy genetics filaggrin epidermal differentiation complex Kanchan, Kanika verfasserin aut Bahnson, Henry T. verfasserin aut Ruczinski, Ingo verfasserin aut Shankar, Gautam verfasserin aut Leung, Donald Y.M. verfasserin aut Baloh, Carolyn verfasserin aut Du Toit, George verfasserin aut Lack, Gideon verfasserin aut Nepom, Gerald T. verfasserin aut Mathias, Rasika A. verfasserin aut Enthalten in The journal of allergy and clinical immunology Amsterdam [u.a.] : Elsevier, 1971 151, Seite 1137-1142.e4 Online-Ressource (DE-627)32045553X (DE-600)2006613-2 (DE-576)094478864 1097-6825 nnns volume:151 pages:1137-1142.e4 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_168 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 44.45 Immunologie 44.78 Immunkrankheiten AR 151 1137-1142.e4 |
| allfieldsSound |
10.1016/j.jaci.2022.11.008 doi (DE-627)ELV009504176 (ELSEVIER)S0091-6749(22)01566-4 DE-627 ger DE-627 rda eng 610 DE-600 44.45 bkl 44.78 bkl Huffaker, Michelle F. verfasserin (orcid)0000-0003-4768-5126 aut Epidermal differentiation complex genetic variation in atopic dermatitis and peanut allergy 2022 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Deleterious variation in the epidermal differentiation complex (EDC) on chromosome 1 is a well-known genetic determinant of atopic dermatitis (AD) and has been associated with risk of peanut allergy (PA) in population-based studies.Objective: Our aim was to determine the effect of genetic variation in the EDC on AD trajectory and risk of PA in early life.Methods: Genome sequencing was used to measure genetic variation in the EDC in the Learning Early about Peanut Allergy (LEAP) study participants. Association tests were done to identify gene- and variant-level predicted deleterious variation associated with AD severity by using the Scoring Atopic Dermatitis (SCORAD) tool (n = 559) at baseline and each follow-up visit, as well as PA and food allergy in peanut avoiders (n = 275). Predicted deleterious variants included missense variants that were frameshift insertions, frameshift deletions, stop-gain mutations, or stop-loss mutations. Associations between variant load, SCORAD score, and PA were tested by using linear and generalized linear regression models.Results: The genes FLG, FLG2, HRNR, and TCHH1 harbored the most predicted deleterious variation (30, 6, 3, and 1 variant, respectively). FLG variants were associated with SCORAD score at all time points; 4 variants (R1798X, R501X, S126X, and S761fs) drove the association with SCORAD score at each time point, and higher variant load was associated with greater AD severity over time. There was an association between these variants and PA, which remained significant independent of baseline AD severity (odds ratio = 2.63 [95% CI = 1.11-6.01] [P = .02]).Conclusions: Variation in FLG predicted to be deleterious is associated with AD severity at baseline and longitudinally and has an association with PA independent of baseline severity. Atopic dermatitis eczema peanut allergy genetics filaggrin epidermal differentiation complex Kanchan, Kanika verfasserin aut Bahnson, Henry T. verfasserin aut Ruczinski, Ingo verfasserin aut Shankar, Gautam verfasserin aut Leung, Donald Y.M. verfasserin aut Baloh, Carolyn verfasserin aut Du Toit, George verfasserin aut Lack, Gideon verfasserin aut Nepom, Gerald T. verfasserin aut Mathias, Rasika A. verfasserin aut Enthalten in The journal of allergy and clinical immunology Amsterdam [u.a.] : Elsevier, 1971 151, Seite 1137-1142.e4 Online-Ressource (DE-627)32045553X (DE-600)2006613-2 (DE-576)094478864 1097-6825 nnns volume:151 pages:1137-1142.e4 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_168 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 44.45 Immunologie 44.78 Immunkrankheiten AR 151 1137-1142.e4 |
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Enthalten in The journal of allergy and clinical immunology 151, Seite 1137-1142.e4 volume:151 pages:1137-1142.e4 |
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Atopic dermatitis eczema peanut allergy genetics filaggrin epidermal differentiation complex |
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Huffaker, Michelle F. @@aut@@ Kanchan, Kanika @@aut@@ Bahnson, Henry T. @@aut@@ Ruczinski, Ingo @@aut@@ Shankar, Gautam @@aut@@ Leung, Donald Y.M. @@aut@@ Baloh, Carolyn @@aut@@ Du Toit, George @@aut@@ Lack, Gideon @@aut@@ Nepom, Gerald T. @@aut@@ Mathias, Rasika A. @@aut@@ |
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Association tests were done to identify gene- and variant-level predicted deleterious variation associated with AD severity by using the Scoring Atopic Dermatitis (SCORAD) tool (n = 559) at baseline and each follow-up visit, as well as PA and food allergy in peanut avoiders (n = 275). Predicted deleterious variants included missense variants that were frameshift insertions, frameshift deletions, stop-gain mutations, or stop-loss mutations. Associations between variant load, SCORAD score, and PA were tested by using linear and generalized linear regression models.Results: The genes FLG, FLG2, HRNR, and TCHH1 harbored the most predicted deleterious variation (30, 6, 3, and 1 variant, respectively). FLG variants were associated with SCORAD score at all time points; 4 variants (R1798X, R501X, S126X, and S761fs) drove the association with SCORAD score at each time point, and higher variant load was associated with greater AD severity over time. 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| author |
Huffaker, Michelle F. |
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Huffaker, Michelle F. ddc 610 bkl 44.45 bkl 44.78 misc Atopic dermatitis misc eczema misc peanut allergy misc genetics misc filaggrin misc epidermal differentiation complex Epidermal differentiation complex genetic variation in atopic dermatitis and peanut allergy |
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610 DE-600 44.45 bkl 44.78 bkl Epidermal differentiation complex genetic variation in atopic dermatitis and peanut allergy Atopic dermatitis eczema peanut allergy genetics filaggrin epidermal differentiation complex |
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ddc 610 bkl 44.45 bkl 44.78 misc Atopic dermatitis misc eczema misc peanut allergy misc genetics misc filaggrin misc epidermal differentiation complex |
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ddc 610 bkl 44.45 bkl 44.78 misc Atopic dermatitis misc eczema misc peanut allergy misc genetics misc filaggrin misc epidermal differentiation complex |
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ddc 610 bkl 44.45 bkl 44.78 misc Atopic dermatitis misc eczema misc peanut allergy misc genetics misc filaggrin misc epidermal differentiation complex |
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Epidermal differentiation complex genetic variation in atopic dermatitis and peanut allergy |
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Epidermal differentiation complex genetic variation in atopic dermatitis and peanut allergy |
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Huffaker, Michelle F. |
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The journal of allergy and clinical immunology |
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The journal of allergy and clinical immunology |
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Huffaker, Michelle F. Kanchan, Kanika Bahnson, Henry T. Ruczinski, Ingo Shankar, Gautam Leung, Donald Y.M. Baloh, Carolyn Du Toit, George Lack, Gideon Nepom, Gerald T. Mathias, Rasika A. |
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Huffaker, Michelle F. |
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10.1016/j.jaci.2022.11.008 |
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epidermal differentiation complex genetic variation in atopic dermatitis and peanut allergy |
| title_auth |
Epidermal differentiation complex genetic variation in atopic dermatitis and peanut allergy |
| abstract |
Background: Deleterious variation in the epidermal differentiation complex (EDC) on chromosome 1 is a well-known genetic determinant of atopic dermatitis (AD) and has been associated with risk of peanut allergy (PA) in population-based studies.Objective: Our aim was to determine the effect of genetic variation in the EDC on AD trajectory and risk of PA in early life.Methods: Genome sequencing was used to measure genetic variation in the EDC in the Learning Early about Peanut Allergy (LEAP) study participants. Association tests were done to identify gene- and variant-level predicted deleterious variation associated with AD severity by using the Scoring Atopic Dermatitis (SCORAD) tool (n = 559) at baseline and each follow-up visit, as well as PA and food allergy in peanut avoiders (n = 275). Predicted deleterious variants included missense variants that were frameshift insertions, frameshift deletions, stop-gain mutations, or stop-loss mutations. Associations between variant load, SCORAD score, and PA were tested by using linear and generalized linear regression models.Results: The genes FLG, FLG2, HRNR, and TCHH1 harbored the most predicted deleterious variation (30, 6, 3, and 1 variant, respectively). FLG variants were associated with SCORAD score at all time points; 4 variants (R1798X, R501X, S126X, and S761fs) drove the association with SCORAD score at each time point, and higher variant load was associated with greater AD severity over time. There was an association between these variants and PA, which remained significant independent of baseline AD severity (odds ratio = 2.63 [95% CI = 1.11-6.01] [P = .02]).Conclusions: Variation in FLG predicted to be deleterious is associated with AD severity at baseline and longitudinally and has an association with PA independent of baseline severity. |
| abstractGer |
Background: Deleterious variation in the epidermal differentiation complex (EDC) on chromosome 1 is a well-known genetic determinant of atopic dermatitis (AD) and has been associated with risk of peanut allergy (PA) in population-based studies.Objective: Our aim was to determine the effect of genetic variation in the EDC on AD trajectory and risk of PA in early life.Methods: Genome sequencing was used to measure genetic variation in the EDC in the Learning Early about Peanut Allergy (LEAP) study participants. Association tests were done to identify gene- and variant-level predicted deleterious variation associated with AD severity by using the Scoring Atopic Dermatitis (SCORAD) tool (n = 559) at baseline and each follow-up visit, as well as PA and food allergy in peanut avoiders (n = 275). Predicted deleterious variants included missense variants that were frameshift insertions, frameshift deletions, stop-gain mutations, or stop-loss mutations. Associations between variant load, SCORAD score, and PA were tested by using linear and generalized linear regression models.Results: The genes FLG, FLG2, HRNR, and TCHH1 harbored the most predicted deleterious variation (30, 6, 3, and 1 variant, respectively). FLG variants were associated with SCORAD score at all time points; 4 variants (R1798X, R501X, S126X, and S761fs) drove the association with SCORAD score at each time point, and higher variant load was associated with greater AD severity over time. There was an association between these variants and PA, which remained significant independent of baseline AD severity (odds ratio = 2.63 [95% CI = 1.11-6.01] [P = .02]).Conclusions: Variation in FLG predicted to be deleterious is associated with AD severity at baseline and longitudinally and has an association with PA independent of baseline severity. |
| abstract_unstemmed |
Background: Deleterious variation in the epidermal differentiation complex (EDC) on chromosome 1 is a well-known genetic determinant of atopic dermatitis (AD) and has been associated with risk of peanut allergy (PA) in population-based studies.Objective: Our aim was to determine the effect of genetic variation in the EDC on AD trajectory and risk of PA in early life.Methods: Genome sequencing was used to measure genetic variation in the EDC in the Learning Early about Peanut Allergy (LEAP) study participants. Association tests were done to identify gene- and variant-level predicted deleterious variation associated with AD severity by using the Scoring Atopic Dermatitis (SCORAD) tool (n = 559) at baseline and each follow-up visit, as well as PA and food allergy in peanut avoiders (n = 275). Predicted deleterious variants included missense variants that were frameshift insertions, frameshift deletions, stop-gain mutations, or stop-loss mutations. Associations between variant load, SCORAD score, and PA were tested by using linear and generalized linear regression models.Results: The genes FLG, FLG2, HRNR, and TCHH1 harbored the most predicted deleterious variation (30, 6, 3, and 1 variant, respectively). FLG variants were associated with SCORAD score at all time points; 4 variants (R1798X, R501X, S126X, and S761fs) drove the association with SCORAD score at each time point, and higher variant load was associated with greater AD severity over time. There was an association between these variants and PA, which remained significant independent of baseline AD severity (odds ratio = 2.63 [95% CI = 1.11-6.01] [P = .02]).Conclusions: Variation in FLG predicted to be deleterious is associated with AD severity at baseline and longitudinally and has an association with PA independent of baseline severity. |
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| title_short |
Epidermal differentiation complex genetic variation in atopic dermatitis and peanut allergy |
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true |
| author2 |
Kanchan, Kanika Bahnson, Henry T. Ruczinski, Ingo Shankar, Gautam Leung, Donald Y.M. Baloh, Carolyn Du Toit, George Lack, Gideon Nepom, Gerald T. Mathias, Rasika A. |
| author2Str |
Kanchan, Kanika Bahnson, Henry T. Ruczinski, Ingo Shankar, Gautam Leung, Donald Y.M. Baloh, Carolyn Du Toit, George Lack, Gideon Nepom, Gerald T. Mathias, Rasika A. |
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| doi_str |
10.1016/j.jaci.2022.11.008 |
| up_date |
2024-07-06T23:23:25.443Z |
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