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
Validation

Diseases presenting "hypertension" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

aniridia

aromatase deficiency

cadasil

child syndrome

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

cushing syndrome

cystinuria

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

fabry disease

familial hypocalciuric hypercalcemia

gm1 gangliosidosis

heparin-induced thrombocytopenia

hereditary cerebral hemorrhage with amyloidosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

inclusion body myositis

kallmann syndrome

kindler syndrome

lamellar ichthyosis

lymphangioleiomyomatosis

pendred syndrome

primary effusion lymphoma

scrub typhus

severe combined immunodeficiency

sneddon syndrome

typhoid

von hippel-lindau disease

well-differentiated liposarcoma

werner syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

This symptom has already been validated