Ishan Sunilkumar Bhatt, Sai Kumar Ramadugu, Shawn Goodman, Srividya Grama Bhagavan, Valerie Ingalls, Raquel Dias, Ali Torkamani
{"title":"自报听力正常的健康年轻人噪声中言语与听力阈值测量的基于多因素风险评分的关联分析。","authors":"Ishan Sunilkumar Bhatt, Sai Kumar Ramadugu, Shawn Goodman, Srividya Grama Bhagavan, Valerie Ingalls, Raquel Dias, Ali Torkamani","doi":"10.1007/s10162-023-00911-4","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>Speech-in-noise (SIN) traits exhibit high inter-subject variability, even for healthy young adults reporting normal hearing. Emerging evidence suggests that genetic variability could influence inter-subject variability in SIN traits. Genome-wide association studies (GWAS) have uncovered the polygenic architecture of various adult-onset complex human conditions. Polygenic risk scores (PRS) summarize complex genetic susceptibility to quantify the degree of genetic risk for health conditions. The present study conducted PRS-based association analyses to identify PRS risk factors for SIN and hearing threshold measures in 255 healthy young adults (18-40 years) with self-reported normal hearing.</p><p><strong>Methods: </strong>Self-reported SIN perception abilities were assessed by the Speech, Spatial, and Qualities of Hearing Scale (SSQ12). QuickSIN and audiometry (0.25-16 kHz) were performed on 218 participants. Saliva-derived DNA was used for low-pass whole genome sequencing, and 2620 PRS variables for various traits were calculated using the models derived from the polygenic risk score (PGS) catalog. The regression analysis was conducted to identify predictors for SSQ12, QuickSIN, and better ear puretone averages at conventional (PTA<sub>0.5-2</sub>), high (PTA<sub>4-8</sub>), and extended-high (PTA<sub>12.5-16</sub>) frequency ranges.</p><p><strong>Results: </strong>Participants with a higher genetic predisposition to HDL cholesterol reported better SSQ12. Participants with high PRS to dementia revealed significantly elevated PTA<sub>4-8</sub>, and those with high PRS to atrial fibrillation and flutter revealed significantly elevated PTA<sub>12.5-16</sub>.</p><p><strong>Conclusion: </strong>These results indicate that healthy individuals with polygenic risk of certain health conditions could exhibit a subclinical decline in hearing health measures at young ages, decades before clinically meaningful SIN deficits and hearing loss could be observed. PRS could be used to identify high-risk individuals to prevent hearing health conditions by promoting a healthy lifestyle.</p>","PeriodicalId":56283,"journal":{"name":"Jaro-Journal of the Association for Research in Otolaryngology","volume":" ","pages":"513-525"},"PeriodicalIF":2.4000,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10695896/pdf/","citationCount":"0","resultStr":"{\"title\":\"Polygenic Risk Score-Based Association Analysis of Speech-in-Noise and Hearing Threshold Measures in Healthy Young Adults with Self-reported Normal Hearing.\",\"authors\":\"Ishan Sunilkumar Bhatt, Sai Kumar Ramadugu, Shawn Goodman, Srividya Grama Bhagavan, Valerie Ingalls, Raquel Dias, Ali Torkamani\",\"doi\":\"10.1007/s10162-023-00911-4\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>Speech-in-noise (SIN) traits exhibit high inter-subject variability, even for healthy young adults reporting normal hearing. Emerging evidence suggests that genetic variability could influence inter-subject variability in SIN traits. Genome-wide association studies (GWAS) have uncovered the polygenic architecture of various adult-onset complex human conditions. Polygenic risk scores (PRS) summarize complex genetic susceptibility to quantify the degree of genetic risk for health conditions. The present study conducted PRS-based association analyses to identify PRS risk factors for SIN and hearing threshold measures in 255 healthy young adults (18-40 years) with self-reported normal hearing.</p><p><strong>Methods: </strong>Self-reported SIN perception abilities were assessed by the Speech, Spatial, and Qualities of Hearing Scale (SSQ12). QuickSIN and audiometry (0.25-16 kHz) were performed on 218 participants. Saliva-derived DNA was used for low-pass whole genome sequencing, and 2620 PRS variables for various traits were calculated using the models derived from the polygenic risk score (PGS) catalog. The regression analysis was conducted to identify predictors for SSQ12, QuickSIN, and better ear puretone averages at conventional (PTA<sub>0.5-2</sub>), high (PTA<sub>4-8</sub>), and extended-high (PTA<sub>12.5-16</sub>) frequency ranges.</p><p><strong>Results: </strong>Participants with a higher genetic predisposition to HDL cholesterol reported better SSQ12. Participants with high PRS to dementia revealed significantly elevated PTA<sub>4-8</sub>, and those with high PRS to atrial fibrillation and flutter revealed significantly elevated PTA<sub>12.5-16</sub>.</p><p><strong>Conclusion: </strong>These results indicate that healthy individuals with polygenic risk of certain health conditions could exhibit a subclinical decline in hearing health measures at young ages, decades before clinically meaningful SIN deficits and hearing loss could be observed. PRS could be used to identify high-risk individuals to prevent hearing health conditions by promoting a healthy lifestyle.</p>\",\"PeriodicalId\":56283,\"journal\":{\"name\":\"Jaro-Journal of the Association for Research in Otolaryngology\",\"volume\":\" \",\"pages\":\"513-525\"},\"PeriodicalIF\":2.4000,\"publicationDate\":\"2023-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10695896/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Jaro-Journal of the Association for Research in Otolaryngology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s10162-023-00911-4\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/10/2 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"NEUROSCIENCES\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Jaro-Journal of the Association for Research in Otolaryngology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10162-023-00911-4","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/10/2 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"NEUROSCIENCES","Score":null,"Total":0}
Polygenic Risk Score-Based Association Analysis of Speech-in-Noise and Hearing Threshold Measures in Healthy Young Adults with Self-reported Normal Hearing.
Purpose: Speech-in-noise (SIN) traits exhibit high inter-subject variability, even for healthy young adults reporting normal hearing. Emerging evidence suggests that genetic variability could influence inter-subject variability in SIN traits. Genome-wide association studies (GWAS) have uncovered the polygenic architecture of various adult-onset complex human conditions. Polygenic risk scores (PRS) summarize complex genetic susceptibility to quantify the degree of genetic risk for health conditions. The present study conducted PRS-based association analyses to identify PRS risk factors for SIN and hearing threshold measures in 255 healthy young adults (18-40 years) with self-reported normal hearing.
Methods: Self-reported SIN perception abilities were assessed by the Speech, Spatial, and Qualities of Hearing Scale (SSQ12). QuickSIN and audiometry (0.25-16 kHz) were performed on 218 participants. Saliva-derived DNA was used for low-pass whole genome sequencing, and 2620 PRS variables for various traits were calculated using the models derived from the polygenic risk score (PGS) catalog. The regression analysis was conducted to identify predictors for SSQ12, QuickSIN, and better ear puretone averages at conventional (PTA0.5-2), high (PTA4-8), and extended-high (PTA12.5-16) frequency ranges.
Results: Participants with a higher genetic predisposition to HDL cholesterol reported better SSQ12. Participants with high PRS to dementia revealed significantly elevated PTA4-8, and those with high PRS to atrial fibrillation and flutter revealed significantly elevated PTA12.5-16.
Conclusion: These results indicate that healthy individuals with polygenic risk of certain health conditions could exhibit a subclinical decline in hearing health measures at young ages, decades before clinically meaningful SIN deficits and hearing loss could be observed. PRS could be used to identify high-risk individuals to prevent hearing health conditions by promoting a healthy lifestyle.
期刊介绍：
JARO is a peer-reviewed journal that publishes research findings from disciplines related to otolaryngology and communications sciences, including hearing, balance, speech and voice. JARO welcomes submissions describing experimental research that investigates the mechanisms underlying problems of basic and/or clinical significance.
Authors are encouraged to familiarize themselves with the kinds of papers carried by JARO by looking at past issues. Clinical case studies and pharmaceutical screens are not likely to be considered unless they reveal underlying mechanisms. Methods papers are not encouraged unless they include significant new findings as well. Reviews will be published at the discretion of the editorial board; consult the editor-in-chief before submitting.
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