Otosclerosis in South India

Kapur, Y. P.; Patt, A. J.

doi:10.3109/00016486609127071

Cited by 14 publications

(4 citation statements)

References 6 publications

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“…Among the Todas in India, however, the prevalence of otosclerosis was estimated at 17%. Kapur and Patt (1966) emphasized the presence of consanguineous marriages, a custom among the Todas. Consanguinity would then appear to influence the data retrieved.…”

Section: Racementioning

confidence: 99%

Chapter 2 The Pathology of Otosclerosis

Souza¹,

Glasscock²

2004

Otosclerosis and Stapedectomy Diagnosis, Management, and Complications

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Section: Racementioning

confidence: 99%

Chapter 2 The Pathology of Otosclerosis

Souza¹,

Glasscock²

2004

Otosclerosis and Stapedectomy Diagnosis, Management, and Complications

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“…Clinical OTSC has a prevalence of 0.3–0.4% in European and 0.4–0.8% in the non-European populations [ 1 ]. In India, epidemiological studies suggest that OTSC is a common cause of acquired hearing loss, affecting with higher incidence in the population [ 2 ]. OTSC has been widely accepted as a complex and multifactorial disorder, where both genetic and environmental factors are involved in the etiology.…”

Section: Introductionmentioning

confidence: 99%

The risks of RELN polymorphisms and its expression in the development of otosclerosis

et al. 2022

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Otosclerosis (OTSC) is the primary form of conductive hearing loss characterized by abnormal bone remodelling within the otic capsule of the human middle ear. A genetic association of the RELN SNP rs3914132 with OTSC has been identified in European population. Previously, we showed a trend towards association of this polymorphism with OTSC and identified a rare variant rs74503667 in a familial case. Here, we genotyped these variants in an Indian cohort composed of 254 OTSC cases and 262 controls. We detected a significant association of rs3914132 with OTSC (OR = 0.569, 95%CI = 0.386–0.838, p = 0.0041). To confirm this finding, we completed a meta-analysis which revealed a significant association of the rs3914132 polymorphism with OTSC (Z = 6.707, p<0.0001) across different ethnic populations. Linkage analysis found the evidence of linkage at RELN locus (LOD score 2.1059) in the OTSC family which has shown the transmission of rare variant rs74503667 in the affected individuals. To understand the role of RELN and its receptors in the development of OTSC, we went further to perform a functional analysis of RELN/reelin. Here we detected a reduced RELN (p = 0.0068) and VLDLR (p = 0.0348) mRNA levels in the otosclerotic stapes tissues. Furthermore, a reduced reelin protein expression by immunohistochemistry was confirmed in the otosclerotic tissues. Electrophoretic mobility shift assays for rs3914132 and rs74503667 variants revealed an altered binding of transcription factors in the mutated sequences which indicates the regulatory role of these variations in the RELN gene regulation. Subsequently, we showed by scanning electron microscopy a change in stapes bone morphology of otosclerotic patients. In conclusion, this study evidenced that the rare variation rs74503667 and the common polymorphism rs3914132 in the RELN gene and its reduced expressions that were associated with OTSC.

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“…The prevalence of otosclerosis is rare among Asians and the African population. One study has reported a higher prevalence of the condition in a community in South India, which is likely due to a higher incidence of marriages within the same community [3,4]. Pregnancy is known to aggravate the disease process; consequently, otosclerosis is more prevalent in females [5,6].…”

Section: Introductionmentioning

confidence: 99%

Otosclerosis: Experience With Stapes Surgery

Rajput

Arain

Rajput

et al. 2020

Cureus

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Introduction Otosclerosis is a disorder in which the footplate of the stapes is replaced by an abnormal bone, thereby affecting sound transmission to the inner ear at the level of the oval window. The solution to this condition is to reestablish this mechanism back to normal via the ossicular chain to the inner ear. The aim of stapes surgery is to improve the hearing level to thresholds appropriate enough to obviate the need for hearing aid. The hearing improvement achieved after surgery often lasts for many years. The purpose of the current study was to review our experience and find out the rate of success related to hearing outcomes after stapedotomy.

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Otosclerosis in South India

Cited by 14 publications

References 6 publications

Chapter 2 The Pathology of Otosclerosis

Chapter 2 The Pathology of Otosclerosis

The risks of RELN polymorphisms and its expression in the development of otosclerosis

Otosclerosis: Experience With Stapes Surgery

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