Table 1:
FLG LOF variants and FLG repeat alleles in African American pediatric patients with atopic dermatitis (n=39) reported with respect to human reference FLG 10-repeat allele.
FLG LOF Variant | hg19 coordinate/ RSID (if known) | Location of variant to FLG repeat | FLG repeat allele 1 | FLG repeat allele 2 | Total # FLG repeats | Age | SCORAD | Asthma | Allergic rhinitis | Food Allergies | Ichthyosis Vulgaris (IV)/ Xerosis (X) |
---|---|---|---|---|---|---|---|---|---|---|---|
c.488delG¶ | chr1:152,286,874 | 0 | 10 | 10 | 20 | 7 | 73 | Yes | Yes | Yes1,2,3 | IV |
p.R501* | rs61816761 | 1 | 11 | 11 | 22 | 11 | 83 | Yes | No | None | X |
p.R501* | rs61816761 | 1 | 10 | 11 | 21 | 13 | 38 | Yes | Yes | None | X |
p.R826* | rs115746363 | 2 | 10 | 10 | 20 | 5 | 51 | Yes | No | Yes1 | X |
p.R826* | rs115746363 | 2 | 10 | 10 | 20 | 1 | 65 | Yes | No | None | X |
p.S3101*¶ | chr1:152,278,060 | 9 | 10 | 10 | 20 | 10 | 41 | Yes | Yes | None | X |
p.S3316* | rs149484917 | 9 | 10 | 11 | 21 | 4 | 50 | Yes | No | Yes4 | X |
p.S3316* | rs149484917 | 9 | 10 | 11 | 21 | 2 | 94 | No | No | Yes1 | X |
p.S3316* | rs149484917 | 9 | 10 | 10 | 20 | 0.5 | 85 | No | No | None | X |
denotes novel FLG LOF
Peanut
Shellfish
Seafood
Eggs
Reports of asthma, allergic rhinitis, and food allergies are in response to our study questionnaire and obtained during medical exam history.