Categories: Integument (skin) phene

Links to relevant human diseases in MONDO:

• MONDO:0006527: anhidrosis

Single-gene trait/disorder: unknown

Disease-related: yes

Mapping: Patterson Rosa et al. (2021) "performed a case-control (n = 200) GWAS targeting cases of chronic idiopathic anhidrosis in a controlled genetic background to discover the contributing regions and interrogated gene function for roles in the sweating mechanism. A region containing the KCNE4 gene ... was associated ... with chronic idiopathic anhidrosis through GWAS. A candidate mutation (NC_009149.3:g.11813731A > G, rs68643109) disrupting the KCNE4 protein structure could explain the disease but requires further investigation in larger populations."
Van der Graaf et al. (2025) "aimed to validate this association in a population of well-phenotyped horses ... 50 horses tested in [their] population produced sweat regardless of [rs68643109] genotype, and the previously associated allele is present at a high frequency across datasets, these data fail to validate the missense variant within the KCNE4 gene as causative of or contributing to equine anhidrosis."
Petersen and Finno (2026) reassessed the association beween the KCNE4 variant after conductiong additional research.  Their "data from Thoroughbred horses in a high-risk environment fail to support the implication of KCNE4 SNV NC_009149.3:g.11813731A>G as a risk factor for equine anhidrosis. The data also refute the association of the GWA SNV with disease."