S. Priyadarshi, K.C. Panda, A.K. Panda and P.V. Ramchander
Published September 28, 2010
Genet. Mol. Res. 9 (3): 1914-1920 (2010)
DOI 10.4238/vol9-3gmr890

About the Authors
S. Priyadarshi, K.C. Panda, A.K. Panda and P.V. Ramchander

Corresponding author:
P.V. Ramchander
E-mail: pramchander@yahoo.com / ramchanderpv@ils.res.in 

ABSTRACT

Otosclerosis (MIM 166800) is primarily a metabolic bone disorder of the otic capsule, which leads to bony fixation of the stapedial footplate in the oval window; it is among the most common causes of acquired hearing loss. The etiology of this disease is largely unknown, although epidemiological studies suggest the involvement of both genetic and environmental factors. Recently, a reelin gene, SNP rs3914132, located in intron 2, was shown to be associated with otosclerosis in a European population. When we sequenced blood DNA samples of 85 individuals with otosclerosis and 85 controls, four SNPs of this gene: rs3914131 (P = 0.6463), rs3914132 (P = 0.1822), rs9641319 (P = 0.7371), and rs10227303 (P = 0.5669) were not significantly associated with this disease. In one familial case, a novel variant (C/T) at contig position 2923488 was found to be inherited by the proband and affected family members.

Key words: Otosclerosis; Reelin gene; SNP