Table 2 DSP or PPL rare variant burden analysis in eosinophilic esophagitis (EoE).

From: Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis

Exome Aggregation Consortium (ExAC)a

 

Multiplex EoE cases (n = 62)

Controls (n = 33,370)

P-value (Fisher’s exact test)

 

Minor allele

Major allele

Minor allele

Major allele

 

DSP or PPL

14

234

3079

13,0401

0.0021

UK Biobankb

 

Multiplex EoE cases (n = 62)

Controls (n = 4,822)

 
 

Subjects with variants

Subjects without variants

Subjects with variants

Subjects without variants

P-value (Fisher’s exact test)

DSP or PPL

13

49

532

4,290

0.023

DSP or PPL with other rare variants in desmosome (GO:0030057)

8

54

206

4,616

0.0052

  1. EoE eosinophilic esophagitis, ExAC Exome Aggregation Consortium, UK United Kingdom, GO gene ontology. Two-tailed P-values were determined by the Fisher’s exact test.
  2. aIndividuals of European ancestry from ExAC Database (https://gnomad.broadinstitute.org/). Observed allele counts were based on two alleles of each gene.
  3. bNon-EoE individuals of European ancestry from the UK Biobank (https://www.ukbiobank.ac.uk/).
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