Genetics of otosclerosis: finally catching up with other complex traits?

Tavernier, L.; Fransén, Erik; Valgaeren, Hanne; Camp, Guy Van

doi:10.1007/s00439-021-02357-1

Cited by 7 publications

(8 citation statements)

References 101 publications

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“…In sporadic cases, a complex genetic form may be involved, in which the disease is probably caused by a combination of multiple genetic and environmental factors. 19 …”

Section: Introductionmentioning

confidence: 99%

“… 1 However, other inheritance patterns have also been proposed, such as digenic recessive, autosomal recessive, and X-linked dominant inheritance. 19 Despite evidence of a genetic contribution to otosclerosis, the heritability of the disease has not been estimated. 19 , 21 …”

Section: Introductionmentioning

confidence: 99%

“… 19 Despite evidence of a genetic contribution to otosclerosis, the heritability of the disease has not been estimated. 19 , 21 …”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Brazilian Society of Otology task force – Otosclerosis: evaluation and treatment

Silva,

Pauna,

Lavinsky

et al. 2023

Brazilian Journal of Otorhinolaryngology

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“…In sporadic cases, a complex genetic form may be involved, in which the disease is probably caused by a combination of multiple genetic and environmental factors. 19 …”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Brazilian Society of Otology task force – Otosclerosis: evaluation and treatment

Silva,

Pauna,

Lavinsky

et al. 2023

Brazilian Journal of Otorhinolaryngology

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“…Family and twin studies have indicated that genetic factor plays a significant role in the disease manifestation [ 3 ]. Despite intensive study on OTSC, till date ten monogenic loci has been mapped but have not yet identified the causal genes [ 4 , 5 ]. Several case-control studies reported a significant association of SNPs in COL1A1 [ 6 , 7 ] , TGF-β1 [ 8 , 9 ] , BMP2 [ 10 ], BMP4 [ 7 , 10 ] and OPG [ 11 , 12 ] genes with OTSC in different populations.…”

Section: Introductionmentioning

confidence: 99%

“…Several case-control studies reported a significant association of SNPs in COL1A1 [ 6 , 7 ] , TGF-β1 [ 8 , 9 ] , BMP2 [ 10 ], BMP4 [ 7 , 10 ] and OPG [ 11 , 12 ] genes with OTSC in different populations. Recently, high throughput sequencing has spotted certain pathogenic variants in MEPE , ACAN and SERPINF1 genes with unsettled pathogenicity [ 5 , 13 ].…”

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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Establishment of an induced pluripotent stem cell line (JTUi003-A) from a patient with otosclerosis

Xiong

Wang

et al. 2022

Stem Cell Research

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Genetics of otosclerosis: finally catching up with other complex traits?

Cited by 7 publications

References 101 publications

Brazilian Society of Otology task force – Otosclerosis: evaluation and treatment

Brazilian Society of Otology task force – Otosclerosis: evaluation and treatment

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

Establishment of an induced pluripotent stem cell line (JTUi003-A) from a patient with otosclerosis

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