Sudden hearing loss and MTHFR 677C&gt;T/1298A&gt;C gene polymorphisms

Capaccio, Pasquale; Ottaviani, F.; Cuccarini, Valeria; Ambrosetti, Umberto; Fagnani, E.; Bottero, A; Cenzuales, Salvatore; Cesana, Bruno Mario; Pignataro, Lorenzo

doi:10.1097/01.gim.0000157817.92509.45

Cited by 28 publications

(33 citation statements)

References 20 publications

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“…Our homozygous carriers of PLA2 tended to have poorer recovery rates after treatment, but this was not significant, a finding that fails to replicate the significant difference observed in this regard by Rudack et al [2004]. However, our results are consistent with those of Capaccio et al [2005], who did not find a higher prevalence of the A2 allele in the case group compared to controls.…”

Section: Discussionsupporting

confidence: 46%

“…Unfortunately, the lack of certain specific data does not enable full comparisons between these series [Capaccio et al, 2005;Marcucci et al, 2005;Rudack et al, 2006;Lin et al, 2008;Cadoni et al, 2010;Uchida et al, 2010;Mosnier et al, 2011]. Analogous data were observed in other studies for the cardiovascular and neurovascular risk profiles [Capaccio et al, 2005;Marcucci et al, 2005;Rudack et al, 2006;Lin et al, 2008;Cadoni et al, 2010;Uchida et al, 2010;Mosnier et al, 2011]. Lin et al [2008] compared the presence of stroke in cohorts of appendectomy and iSSNHL patients.…”

Section: Discussionmentioning

confidence: 71%

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Idiopathic Sudden Sensorineural Hearing Loss: Classic Cardiovascular and New Genetic Risk Factors

Ballesteros¹,

Tàssies

Reverter

et al. 2012

Audiol Neurotol

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Background: The main causative process in idiopathic sudden sensorineural hearing loss (iSSNHL) has yet to be explained or demonstrated. The clinical picture supports vascular involvement, but obvious limitations of inner ear study make this difficult to corroborate. Objectives: To determine the role of thrombophilic genetic variants that may affect platelet function and to assess the cardiovascular risk profile in a cohort of patients with iSSNHL. Patients and Methods: 118 Caucasian patients with iSSNHL were recruited from the same geographical area and enrolled prospectively in this study. Clinical data were obtained for each patient. Polymorphisms of the platelet glycoprotein subunit IIIa gene, ITGB3 (PLA1/A2, rs5918), and of the platelet glycoprotein subunit Ia gene, ITGA2 (C807T, rs1126643) were analyzed. A control group of 161 age- and gender-matched healthy individuals from the same geographical area was recruited for genetic comparisons. In order to determine the cardiovascular risk profile of each patient and of our cohort, a cross-sectional assessment was performed by means of a calibrated Framingham coronary heart disease risk scale. Risk factor proportions were compared to those recommended in European guidelines for coronary prevention, which are also based on the Framingham function. Results: A significantly high prevalence of the 807T allele of platelet glycoprotein subunit Ia was found in patients compared to controls. There was a significant correlation between the 807TT homozygous genotype and a low probability of recovery. The PLA1/A2 polymorphism of platelet glycoprotein subunit IIIa was not associated with recovery, with a similar genotype prevalence being found in patients and controls. In terms of cardiovascular risk profile, patients did not present an excess of baseline coronary risk factors compared to the general population in the same geographical area. Conclusions: Patients with iSSNHL had a higher prevalence of the 807T thrombophilic polymorphism of platelet glycoprotein Ia/IIa. Patients homozygous for this polymorphism are less likely to recover from iSSNHL. Classical cardiovascular risk factors were not related to iSSNHL.

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Section: Discussionsupporting

confidence: 46%

Section: Discussionmentioning

confidence: 71%

Idiopathic Sudden Sensorineural Hearing Loss: Classic Cardiovascular and New Genetic Risk Factors

Ballesteros¹,

Tàssies

Reverter

et al. 2012

Audiol Neurotol

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“…We confirmed a previous observation made by Rudack et al [2004] who also showed no differences between SSNHL patients and controls in the frequency of T alleles of the MTHFR C677T polymorphism. However, a recent study by Capaccio et al [2005] demonstrated a significant positive association between the C677T polymorphism (677TT) and SSNHL, compared to a control group who have had the same C677T polymorphism distribution as our control group.…”

Section: Discussionmentioning

confidence: 85%

Impact of Methionine Synthase Gene and Methylenetetrahydrofolate Reductase Gene Polymorphisms on the Risk of Sudden Sensorineural Hearing Loss

Gross¹,

Friedman

Eliashar³

et al. 2006

Audiol Neurotol

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Idiopathic sudden sensorineural hearing loss (SSNHL) represents a frequently encountered otological disease of unknown etiology. In recent years, several inherited risk factors have been found in the pathogenesis of vascular diseases. In the present study, we determined whether specific polymorphism or the combination of polymorphisms in folate-dependent homocysteine metabolism genes can act as predisposing inherited vascular risk factors in the development of SSNHL. We conducted a prospective case-control study using DNA samples extracted from 81 patients diagnosed as suffering from SSNHL and 264 healthy control subjects. Three functional polymorphisms were analyzed by polymerase chain reaction amplification, restriction enzyme digestion, and DNA fragment separation by electrophoresis: methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, and methionine synthase (MTR) A2756G polymorphisms. The prevalence of the homozygous genotype of MTR 2756GG in the SSNHL patients (9%) was significantly higher than in the control group (4%) (p = 0.011). The allelic frequency of the G allele of the MTR A2756G polymorphism among SSNHL patients (12.5%) was also significantly higher than in the control group (5%) (p = 0.033). The prevalence of patients possessing two polymorphisms (31%) and three polymorphisms (17%) in the SSNHL group was significantly higher than in the control group (23 and 9%, respectively; p = 0.019). The frequency of patients with a very high rank risk (double homozygous) was significantly higher in the SSNHL group, MTHFR 677TT/MTR 2675GG – 7%, than the frequency of patients in the control group, MTHFR 677TT/MTR 2675GG – 3% (p = 0.030). Certain polymorphisms in genes encoding enzymes in the folate-dependent homocysteine metabolism are associated with SSNHL. In our case-control study, a significant association between MTR 2756GG genotype and SSNHL was found which may represent an inherited vascular risk factor in the pathogenesis of SSNHL.

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“…In SSNHL, significant associations have been reported mainly for polymorphisms in genes related to blood vessels, circulation, or inflammation, including protein kinase C eta type (1425G/A), matrix metalloproteinase-1 ( -1607G/2G), interleukin 1A ( -889C/T), interleukin 6 ( -572C/G), methylenetetrahydrofolate reductase (C677T), prothrombin (G20210A), platelet Gly IIIaA1/ A2, and factor V Leiden (Capaccio et al, 2005a(Capaccio et al, , 2005b(Capaccio et al, , 2007(Capaccio et al, , 2009Uchida et al, 2010Uchida et al, , 2011Furuta et al, 2011;Nam et al, 2011;Hiramatsu et al 2012). In Ménière's disease, significant associations have been reported for genetic polymorphisms, such as those in the KCNE potassium channel genes (in the Japanese population, but not in Caucasians), adducin 1 (Gly460Trp), heat-shock protein 70-1 (190G/C), and interleukin 1A (-889C/T) (Doi et al, 2005;Kawaguchi et al, 2008;Teggi et al, 2008;Campbell et al, 2010;Furuta et al, 2011).…”

mentioning

confidence: 99%

Polymorphisms in Genes Involved in Oxidative Stress Response in Patients with Sudden Sensorineural Hearing Loss and Ménière's Disease in a Japanese Population

Teranishi

Uchida²,

Nishio³

et al. 2012

DNA and Cell Biology

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Sudden hearing loss and MTHFR 677C>T/1298A>C gene polymorphisms

Cited by 28 publications

References 20 publications

Idiopathic Sudden Sensorineural Hearing Loss: Classic Cardiovascular and New Genetic Risk Factors

Idiopathic Sudden Sensorineural Hearing Loss: Classic Cardiovascular and New Genetic Risk Factors

Impact of Methionine Synthase Gene and Methylenetetrahydrofolate Reductase Gene Polymorphisms on the Risk of Sudden Sensorineural Hearing Loss

Polymorphisms in Genes Involved in Oxidative Stress Response in Patients with Sudden Sensorineural Hearing Loss and Ménière's Disease in a Japanese Population

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