Céline Konecki, Bruno Francou, Kenneth Chappell, Lucie Augey, Guillemette Beaudonnet, Cécile Cauquil, Dalia Dimitri-Boulos, Adeline Not, Clovis Adam, Vianney Poinsignon, Céline Verstuyft, David Adams, Andoni Echaniz-Laguna, Céline Labeyrie
{"title":"非淀粉样变性 TTR 基因变异 c.76G>A 和 c.337-18G>C 与特发性小纤维神经病无关。","authors":"Céline Konecki, Bruno Francou, Kenneth Chappell, Lucie Augey, Guillemette Beaudonnet, Cécile Cauquil, Dalia Dimitri-Boulos, Adeline Not, Clovis Adam, Vianney Poinsignon, Céline Verstuyft, David Adams, Andoni Echaniz-Laguna, Céline Labeyrie","doi":"10.1111/ene.16461","DOIUrl":null,"url":null,"abstract":"<div>\n \n \n <section>\n \n <h3> Background and Purpose</h3>\n \n <p>Small-fiber neuropathy (SFN) affects only unmyelinated and thin myelinated fibers. It may be caused by amyloidogenic mutations of the transthyretin (<i>TTR</i>) gene, but not all <i>TTR</i> gene variants are pathogenic. The nonamyloidogenic c.76G>A (rs1800458) and c.337-18G>C (rs36204272) variants of <i>TTR</i> were recently reported to be associated with SFN. We investigated this putative association by analyzing <i>TTR</i> gene sequencing data retrospectively for two cohorts of patients, one with SFN and a control group.</p>\n </section>\n \n <section>\n \n <h3> Methods</h3>\n \n <p>In this retrospective single-center study, we analyzed the frequency of the c.76G>A and c.337-18G>C <i>TTR</i> gene variants in a cohort of patients meeting a strict definition of SFN, with or without dysautonomia, a control cohort of patients investigated for nonneurological conditions, and the gnomAD international database.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>We included 55 SFN patients in this study, 17 of whom had dysautonomia. The allelic frequencies of the two variants in our cohort of 55 SFN patients were 7.27% for c.76G>A <i>TTR</i> and 5.25% for c.337-18G>C. The frequencies of both variants were statistically similar in the 337 control patients and the gnomAD database.</p>\n </section>\n \n <section>\n \n <h3> Conclusions</h3>\n \n <p>The c.76G>A and c.337-18G>C <i>TTR</i> gene variants are not associated with SFN.</p>\n </section>\n </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"31 12","pages":""},"PeriodicalIF":4.5000,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11555007/pdf/","citationCount":"0","resultStr":"{\"title\":\"Nonamyloidogenic TTR gene variants c.76G>A and c.337-18G>C are not associated with idiopathic small-fiber neuropathy\",\"authors\":\"Céline Konecki, Bruno Francou, Kenneth Chappell, Lucie Augey, Guillemette Beaudonnet, Cécile Cauquil, Dalia Dimitri-Boulos, Adeline Not, Clovis Adam, Vianney Poinsignon, Céline Verstuyft, David Adams, Andoni Echaniz-Laguna, Céline Labeyrie\",\"doi\":\"10.1111/ene.16461\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n \\n <section>\\n \\n <h3> Background and Purpose</h3>\\n \\n <p>Small-fiber neuropathy (SFN) affects only unmyelinated and thin myelinated fibers. It may be caused by amyloidogenic mutations of the transthyretin (<i>TTR</i>) gene, but not all <i>TTR</i> gene variants are pathogenic. The nonamyloidogenic c.76G>A (rs1800458) and c.337-18G>C (rs36204272) variants of <i>TTR</i> were recently reported to be associated with SFN. We investigated this putative association by analyzing <i>TTR</i> gene sequencing data retrospectively for two cohorts of patients, one with SFN and a control group.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Methods</h3>\\n \\n <p>In this retrospective single-center study, we analyzed the frequency of the c.76G>A and c.337-18G>C <i>TTR</i> gene variants in a cohort of patients meeting a strict definition of SFN, with or without dysautonomia, a control cohort of patients investigated for nonneurological conditions, and the gnomAD international database.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Results</h3>\\n \\n <p>We included 55 SFN patients in this study, 17 of whom had dysautonomia. The allelic frequencies of the two variants in our cohort of 55 SFN patients were 7.27% for c.76G>A <i>TTR</i> and 5.25% for c.337-18G>C. 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Nonamyloidogenic TTR gene variants c.76G>A and c.337-18G>C are not associated with idiopathic small-fiber neuropathy
Background and Purpose
Small-fiber neuropathy (SFN) affects only unmyelinated and thin myelinated fibers. It may be caused by amyloidogenic mutations of the transthyretin (TTR) gene, but not all TTR gene variants are pathogenic. The nonamyloidogenic c.76G>A (rs1800458) and c.337-18G>C (rs36204272) variants of TTR were recently reported to be associated with SFN. We investigated this putative association by analyzing TTR gene sequencing data retrospectively for two cohorts of patients, one with SFN and a control group.
Methods
In this retrospective single-center study, we analyzed the frequency of the c.76G>A and c.337-18G>C TTR gene variants in a cohort of patients meeting a strict definition of SFN, with or without dysautonomia, a control cohort of patients investigated for nonneurological conditions, and the gnomAD international database.
Results
We included 55 SFN patients in this study, 17 of whom had dysautonomia. The allelic frequencies of the two variants in our cohort of 55 SFN patients were 7.27% for c.76G>A TTR and 5.25% for c.337-18G>C. The frequencies of both variants were statistically similar in the 337 control patients and the gnomAD database.
Conclusions
The c.76G>A and c.337-18G>C TTR gene variants are not associated with SFN.
期刊介绍：
The European Journal of Neurology is the official journal of the European Academy of Neurology and covers all areas of clinical and basic research in neurology, including pre-clinical research of immediate translational value for new potential treatments. Emphasis is placed on major diseases of large clinical and socio-economic importance (dementia, stroke, epilepsy, headache, multiple sclerosis, movement disorders, and infectious diseases).
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