Duran Jerry A, Watkins W Scott, Neklason Deborah W, Jorde Lynn B
Department of Human Genetics, The University of Utah, Salt Lake City, UT 84112, USA.
Department of Internal Medicine, The University of Utah Medical School, The University of Utah, Salt Lake City, UT 84112, USA.
G3 (Bethesda). 2025 Feb 5;15(2). doi: 10.1093/g3journal/jkae292.
This study presents a frequency-specific, pedigree-based assessment of hearing acuity heritability. We analysed 34 Utah Centre d'Etude du Polymorphisme Humain (CEPH) pedigrees comprising 464 individuals, using whole-genome sequencing (WGS) and audiometric evaluations. Our analysis reveals a general decline in narrow-sense heritability as frequency increases. When calculated using the Sequential Oligogenic Linkage Analysis Routines (SOLAR) software package, narrow-sense heritability estimates drop from 51% at 250 Hz to 30% at 8000 Hz. Genetic correlations (Rho(G)), the degree to which genetic variation in one trait correlates with another, are higher for hearing acuity at similar frequencies. For example, Rho(G) between 250 and 500 Hz is 0.80, and Rho(G) between 6000 and 8000 Hz is 0.91. In contrast, frequencies distant from each other exhibit decreased Rho(G) with a genetic correlation of only 0.21 for hearing acuity at frequencies 250 and 8000 Hz. This assessment of the genetics underlying hearing acuity in a family-based design provides new details of genetic factors influencing hearing acuity in a frequency-specific approach.
本研究提出了一种基于谱系的听力敏锐度遗传度的频率特异性评估。我们使用全基因组测序（WGS）和听力测定评估分析了34个犹他人类多态性研究中心（CEPH）谱系，这些谱系包含464名个体。我们的分析表明，随着频率增加，狭义遗传度普遍下降。使用序列寡基因连锁分析程序（SOLAR）软件包计算时，狭义遗传度估计值从250Hz时的51%降至8000Hz时的30%。遗传相关性（Rho(G)），即一个性状的遗传变异与另一个性状的相关程度，在相似频率下的听力敏锐度之间更高。例如，250Hz和500Hz之间的Rho(G)为0.80，6000Hz和8000Hz之间的Rho(G)为0.91。相比之下，彼此距离较远的频率表现出Rho(G)降低，250Hz和8000Hz频率下听力敏锐度的遗传相关性仅为0.21。这种在基于家庭的设计中对听力敏锐度潜在遗传学的评估，以频率特异性方法提供了影响听力敏锐度的遗传因素的新细节。
