Identification of novel loci in obstructive sleep apnea in European American and African American children.

IF 5.3 2区医学 Q1 CLINICAL NEUROLOGY

Sleep Pub Date : 2024-03-11 DOI:10.1093/sleep/zsac182

Courtney M Quinlan, Xiao Chang, Michael March, Frank D Mentch, Hui-Qi Qu, Yichuan Liu, Joseph Glessner, Patrick M A Sleiman, Hakon Hakonarson

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引用次数: 0

Abstract

Study objectives: To identify genetic susceptibility variants in pediatric obstructive sleep apnea in European American and African American children.

Methods: A phenotyping algorithm using electronic medical records was developed to recruit cases with OSA and control subjects from the Center for Applied Genomics at Children's Hospital of Philadelphia (CHOP). Genome-wide association studies (GWAS) were performed in pediatric OSA cases and control subjects with European American (EA) and African American (AA) ancestry followed by meta-analysis and sex stratification.

Results: The algorithm accrued 1486 subjects (46.3% European American, 53.7% African American). We identified genomic loci at 1p36.22 and 15q26.1 that associated with OSA risk in EA and AA, respectively. We also revealed a shared risk locus at 18p11.32 (rs114124196, p = 1.72 × 10-8) across EA and AA populations. Additionally, association at 1q43 (rs12754698) and 2p25.1 (rs72775219) was identified in the male-only analysis of EA children with OSA, while association at 8q21.11 (rs6472959), 11q24.3 (rs4370952) and 15q21.1 (rs149936782) was detected in the female-only analysis of EA children and association at 18p11.23 (rs9964029) was identified in the female-only analysis of African-American children. Moreover, the 18p11.32 locus was replicated in an EA cohort (rs114124196, p = 8.8 × 10-3).

Conclusions: We report the first GWAS for pediatric OSA in European Americans and African Americans. Our results provide novel insights to the genetic underpins of pediatric OSA.

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在欧洲裔美国人和非洲裔美国人儿童中鉴定阻塞性睡眠呼吸暂停的新基因位点。

研究目的确定欧洲裔美国儿童和非洲裔美国儿童患小儿阻塞性睡眠呼吸暂停的遗传易感性变异：对具有欧洲裔美国人（EA）和非洲裔美国人（AA）血统的小儿OSA病例和对照受试者进行全基因组关联研究（GWAS），然后进行荟萃分析和性别分层：该算法共收集了 1,486 名受试者（46.3% 为欧洲裔美国人，53.7% 为非洲裔美国人）。我们确定了 1p36.22 和 15q26.1 基因组位点，这两个位点分别与欧裔美国人和非裔美国人的 OSA 风险有关。我们还在 EA 和 AA 人群中发现了一个位于 18p11.32 的共享风险位点（rs114124196，P =1.72 ×10 -8）。此外，在对患有 OSA 的 EA 儿童进行的男性分析中，发现了 1q43 (rs12754698) 和 2p25.1 (rs72775219)，而 8q21.11 (rs6472959)、11q24.3 (rs4370952) 和 15q21.1 (rs149936782) 的关联，而在对非裔美国儿童进行的女性分析中则发现了 18p11.23 (rs9964029) 的关联。此外，18p11.32位点在EA队列中得到了复制（rs114124196，P =8.8 ×10 -3）：我们报告了首个针对欧洲裔美国人和非洲裔美国人小儿 OSA 的 GWAS。结论：我们首次报告了欧洲裔美国人和非洲裔美国人小儿 OSA 的 GWAS，我们的研究结果为小儿 OSA 的遗传基础提供了新的见解。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Sleep 医学-临床神经学

CiteScore

10.10

自引率

10.70%

发文量

1134

审稿时长

3 months

期刊介绍： SLEEP® publishes findings from studies conducted at any level of analysis, including: Genes Molecules Cells Physiology Neural systems and circuits Behavior and cognition Self-report SLEEP® publishes articles that use a wide variety of scientific approaches and address a broad range of topics. These may include, but are not limited to: Basic and neuroscience studies of sleep and circadian mechanisms In vitro and animal models of sleep, circadian rhythms, and human disorders Pre-clinical human investigations, including the measurement and manipulation of sleep and circadian rhythms Studies in clinical or population samples. These may address factors influencing sleep and circadian rhythms (e.g., development and aging, and social and environmental influences) and relationships between sleep, circadian rhythms, health, and disease Clinical trials, epidemiology studies, implementation, and dissemination research.