الملخص الإنجليزي
Otoscelerosis is a condition characterized by abnormal remodelling of
the otic capsule. It leads to the progression of the conductive or sensorineural hearing
loss. Conductive otoscelerosis results from fixation of the stapes in the middle ear
and thus prevent ossicular vibration in response to sound and therefore hearing loss occurs. Mode of inheritance of otoscelerosis is autosomal dominant with incomplete penetrance.
Aim: To investigate the association of COL1A1 and TGFB1 gene polymorphisms with otoscelerosis in Omani population using a case-control study
Results: In this study, five single nucleotide polymorphisms (SNPs) were examined in 47 unrelated otoscelerosis samples (26 females and 21 males) and 81 unrelated controls (28 females and 53 males). It is found that rs11327935 in COLIA1 is associated with otoscelerosis (p= 0.021) and it is confirmed in earlier studies on its sex specificity. The three SNPs (rs2269336, rs11327935, rs1800012) haplotype C--- T analysis (p=0.023) of COL1A1 was shown to be in harmony with the genotype result, while no significance association was detected on TGFB1 analysed SNPs.
nclusion: There is an association of one of the selected SNPs rs11327935 with otoscelerosis in Omani population. TCoherefore, COL1A1 can be considered as a potential candidate gene to study the association with otoscelerosis.
