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. Author manuscript; available in PMC: 2020 Aug 1.
Published in final edited form as: Hum Mutat. 2019 May 21;40(8):1156–1171. doi: 10.1002/humu.23769

Table 3.

Top 41 genes correlated with A2ML1 in Colorado patients and their known role in mucosal, epithelial or infectious traits

Gene Spearman R p-value Known Role in Mucosa/Infection/Epithelium Reference
EMP1 0.919 3.30E-06 Downregulated in nasal polyps Yu et al. 2013
SPRR3 0.903 3.28E-06 Upregulated in chronic rhinosinusitis Ramakrishnan et al. 2017
RND3 0.896 3.19E-06 Forms confluent layer of HMEECs Mulay et al. 2016
CSTB 0.887 3.02E-06 Upregulated in gingival epithelial cells after contact with Fusobacterium nucleatum Yin & Dale 2007
MUC21 0.886 3.00E-06 Induced by RSV and hMPV Banos-Lara et al. 2015
RNR2 0.880 2.84E-06 Expressed in olfactory mucosa Bergstrom et al. 2007
MTRNR2L8 0.876 2.73E-06 -- --
KRT4 0.876 2.73E-06 Upregulated in cholesteatoma Britze et al. 2014
PPL 0.873 2.60E-06 Autoimmune target in IPF Taille et al. 2011
SPINK5 0.870 2.50E-06 Otitis media in Netherton syndrome Renner et al. 2009
TMPRSS11B 0.869 2.47E-06 Expressed in squamous epithelia of cervix, esophagus and oral cavity Miller et al. 2014
ECM1 0.867 2.40E-06 Mucosal defect in lipoid proteinosis Mirancea et al. 2007
ERO1L 0.867 2.40E-06 High expression in gastric cancer with poor prognosis Seol et al. 2016
LPIN1 0.866 2.36E-06 Downregulated due to high-fat diet along with changes in gastrointestinal mucosa Zhou et al. 2016
S100A10 0.862 2.23E-06 Interaction with TRPV6 in airway and gut epithelia Borthwick et al. 2008
KRT13 0.858 2.09E-06 Mutations lead to white sponge naevus in buccal mucosa Liu et al. 2011
TMPRSS11D 0.858 2.09E-06 Protease in airway epithelium Menou et al. 2017
AHNAK 0.851 1.89E-06 Upregulated in otitis media This report
SPRR1B 0.848 1.82E-06 Upregulated in chronic rhinosinusitis Ramakrishnan et al. 2017
SCEL 0.847 1.80E-06 Forms cornified envelope in stratified squamous epithelium Baden et al. 2005
RNR1 0.845 1.76E-06 -- --
CRNN 0.843 1.73E-06 Downregulated in esophageal cancer Pawar et al. 2013
CAST 0.840 1.71E-06 Decreases influenza A infection Blanc et al. 2016
PABPC1 0.837 1.71E-06 Interaction with HSV-1 proteins Dobrikova et al. 2010
ADAM9 0.836 1.72E-06 Increased in COPD bronchial cells Wang et al. 2018
ATF6B −0.836 1.72E-06 -- --
KRT78 0.834 1.74E-06 Expressed in squamous epithelia Langbein et al. 2016
TGM3 0.833 1.76E-06 Cross-links with HPV proteins Brown et al. 2006
LMO7 0.832 1.78E-06 Upregulated by H.pylori in gastric cells Lim et al. 2003
AIM1 0.831 1.81E-06 Expressed in EBV-infected cells Cahir-McFarland et al. 2004
ANXA1 0.831 1.81E-06 Regulates intestinal mucosal injury, inflammation and repair Babbin et al. 2008
FAM129B 0.831 1.81E-06 Knockout results in delayed healing of wounded skin; keratinocyte-expressed Oishi et al. 2012
SEMA3F −0.831 1.81E-06 Regulates neurite growth in lingual epithelium Vilbig et al. 2004
ANXA2 0.830 1.84E-06 Increased bacterial opsonization and clearance in otitis media Renner et al. 2016
MAL 0.830 1.84E-06 Methylated in dysplastic cervix Mersakova et al. 2014
EHF 0.823 2.21E-06 Regulates airway gene expression Fossum et al. 2017
ERGIC2 0.823 2.21E-06 -- --
MYO5B 0.820 2.47E-06 Mutation causes intestinal microvillus defects Muller et al. 2008
SASH1 0.816 2.91E-06 Mutation causes lentiginous skin phenotypes Zhang et al. 2016
FLG 0.813 3.34E-06 Lower expression in cholesteatoma Nguyen et al. 2014
KLK13 0.810 3.85E-06 In periodontitis Porphyromonas gingivalis proteases degrade SPINK6 resulting in loss of KLK13 inhibition Plaza et al. 2016

HMEEC, human middle ear epithelial cells; RSV, respiratory syncytial virus; hMPV, human metapneumovirus; IPF, idiopathic pulmonary fibrosis; HSV-1, herpes simplex virus-1; COPD, chronic obstructive pulmonary disease; HPV, human papilloma virus; EBV, Epstein-Barr virus.