Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension?

[pendred syndrome]

Mutations of SLC 26 A 4 cause Pendred syndrome , an autosomal recessive disorder comprising goitre and deafness with enlarged vestibular aqueducts (EVA ). Recent studies in mouse models implicate Slc 26 a 4 in the pathogenesis of asthma and hypertension . We hypothesise that asthma and hypertension are less prevalent among humans with SLC 26 A 4 mutations .We reviewed medical histories and SLC 26 A 4 genotypes for 80 individuals with EVA and 130 of their unaffected family members enrolled in a study of EVA . We used Fisher 's exact test to compare the prevalence of asthma and hypertension among groups of subjects with zero , one , or two mutant alleles of SLC 26 A 4 .Although none of the 21 subjects with two mutant alleles of SLC 26 A 4 had asthma or hypertension , there were no statistically significant differences in the prevalence of asthma or hypertension among subjects with zero , one , or two mutant alleles .There might be a protective effect of SLC 26 A 4 mutations for asthma and hypertension but our study is statistically underpowered to detect this effect . Study sizes of at least 1125 and 504 individuals will be needed for 80 % power to detect an effect at alpha = 0 .05 for asthma and hypertension , respectively . Our hypothesis merits a larger study since it has implications for potential strategies to treat hearing loss by manipulating SLC 26 A 4 expression or function .

Diseases
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Diseases presenting "slc26a4 mutations" symptom

pendred syndrome

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