rs11259670 - PRKCQ
Magnitude 2.2 · 1 study on file
Reported associations
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Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4 - Unknown journal (n.d.) · Unknown authors · PubMed 34785669
ABSTRACT: Previous genome-wide association studies revealed multiple common variants involved in eczema but the role of rare variants remains to be elucidated. Here, we investigate the role of rare variants in eczema susceptibility. We meta-analyze 21 study populations including 20,016 eczema cases and 380,433 controls. Rare variants are imputed with high accuracy using large population-based reference panels. We identify rare exonic variants in DUSP1, NOTCH4, and SLC9A4 to be associated with eczema. In DUSP1 and NOTCH4 missense variants are predicted to impact conserved functional domains. In addition, five novel common variants at SATB1-AS1/KCNH8, TRIB1/LINC00861, ZBTB1, TBX21/OSBPL7, and CSF2RB are discovered. While genes prioritized based on rare variants are significantly up-regulated
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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eczema prevention and early intervention strategy Moderate
Genetic predisposition identified; early dermatologic assessment may enable preventive management
review family history, skin care practices, and preventive approaches with dermatologist
Screening
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eczema symptoms and skin barrier function Moderate
rs11259670 T allele shows strong association with eczema across 400k individuals, effect size 0.92
observe skin for itching, redness, scaling monthly; seek dermatology evaluation if symptoms develop