These authors report that the compound heterozygous state of G1885E/G1886S is pathogenic and associated with ARVC, but that neither alone heterozygously no G1885E homozygously is associated with it. They screened 85 ARVC cases, 79 dilated cardiomyopathy, and 463 controls from blood donors.
In ARVC cases, they found: + / +: 75, +/G1886S: 5, +/G1885E: 2, G1885E/G1885E: 0, G1885E/G1886S: 3
In DCM cases they found: + / +: 68, +/G1886S: 5, +/G1885E: 6, G1885E/G1885E: 0, G1885E/G1886S: 0
In controls they found: + / +: 397, +/G1886S: 36, +/G1885E: 28, G1885E/G1885E: 2, G1885E/G1886S: 0
Using a two-tailed Fisher’s Exact test, the 3/85 ARVC compound heterozygotes compared to the incidence in controls (0/397) has a significance of p=0.00362, which the authors report as significant. However, there are many hypotheses being examined here — four different genotypes and two diseases — we could estimate 8 hypotheses have been examined for significance. Applying a Bonferroni correction by multiplying this by 8, this is a corrected p-value of 0.029.