title: Lack of association between SNP rs3914132 of the RELN gene and otosclerosis in India.
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.
authors.affiliation: Institute of Life Sciences, Nalco Square, Chandrashekarpur, Bhubaneswar, India.
authors.forename: S
authors.initials: S
authors.lastname: Priyadarshi
authors.forename: K C
authors.initials: KC
authors.lastname: Panda
authors.forename: A K
authors.initials: AK
authors.lastname: Panda
authors.forename: P V
authors.initials: PV
authors.lastname: Ramchander
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010040:Otosclerosis / Q000453:epidemiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D000091042:Reelin Protein; D012697:Serine Endopeptidases / Q000235:genetics*; D055815:Young Adult
chemical_list: D015816:Cell Adhesion Molecules, Neuronal; D016326:Extracellular Matrix Proteins; D009419:Nerve Tissue Proteins; D000091042:Reelin Protein; C000717127:RELN protein, human; D012697:Serine Endopeptidases