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Research reports on asthma from National Institutes of Health provide new insights



2009 JUL 21 - (NewsRx.com) -- According to recent research published in the Journal of Medical Genetics, "Mutations of SLC26A4 cause Pendred syndrome, an autosomal recessive disorder comprising goitre and deafness with enlarged vestibular aqueducts (EVA). Recent studies in mouse models implicate Slc26a4 in the pathogenesis of asthma and hypertension."

"We hypothesise that asthma and hypertension are less prevalent among humans with SLC26A4 mutations. We reviewed medical histories and SLC26A4 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 SLC26A4. Although none of the 21 subjects with two mutant alleles of SLC26A4 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 SLC26A4 mutations for asthma and hypertension but our study is statistically underpowered to detect this effect. 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," wrote A.C. Madeo and colleagues, National Institutes of Health.

The researchers concluded: "Our hypothesis merits a larger study since it has implications for potential strategies to treat hearing loss by manipulating SLC26A4 expression or function."

Madeo and colleagues published their study in the Journal of Medical Genetics (Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension' Journal of Medical Genetics, 2009;46(6):405-406).

For additional information, contact A.J. Griffith, National Institute Deafness & Other Communicable Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA.

The publisher's contact information for the Journal of Medical Genetics is: B M J Publishing Group, British Med Association House, Tavistock Square, London WC1H 9JR, England.

Keywords: United States, Rockville, Allergies, Allergy Medicine, Asthma, Deafness, Hypertension, Pendred's Syndrome, National Institutes of Health.

This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2009, Life Science Weekly via NewsRx.com.

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