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线粒体DNA单倍群与年龄相关性听力损失

Mitochondrial DNA haplogroups and age-related hearing loss.

作者信息

Manwaring Neil, Jones Michael M, Wang Jie Jin, Rochtchina Elena, Howard Chris, Newall Phillip, Mitchell Paul, Sue Carolyn M

机构信息

Department of Neurogenetics, Clinic 4, Royal North Shore Hospital, Reserve Road, St Leonards, New South Wales, Australia 2065.

出版信息

Arch Otolaryngol Head Neck Surg. 2007 Sep;133(9):929-33. doi: 10.1001/archotol.133.9.929.

Abstract

OBJECTIVE

To determine whether variants of the mitochondrial genome influence the risk of developing age-related hearing loss (ARHL).

DESIGN

Cross-sectional study.

SETTING

Eligible participants were noninstitutionalized permanent residents 49 years or older identified in a door-to-door census of 2 suburban postcode areas, west of Sydney, Australia.

PARTICIPANTS

The Blue Mountains Hearing Study (BMHS) was a population-based survey of hearing loss, conducted during 1997 to 1999, among the participants of the Blue Mountains Eye Study cohort.

MAIN OUTCOME MEASURES

We defined hearing impairment as the pure-tone average of audiometric hearing thresholds at 500, 1000, 2000, and 4000 Hz (> 25- but </= 40-dB hearing level [HL] [mild hearing loss], > 40- but </= 60-dB HL [moderate hearing loss], or > 60-dB HL [severe hearing loss]) in the better of the 2 ears.

RESULTS

Of the 2765 BMHS participants, 912 (33%) were found to have ARHL. After adjusting for other hearing loss risk factors, mitochondrial DNA (mtDNA) haplogroups U and K were independently associated with a higher prevalence of ARHL compared with subjects with other haplogroups. Haplogroup U was significantly associated with moderate to severe ARHL (multivariable-adjusted odds ratio, 1.63; 95% confidence interval, 1.10-2.41). Haplogroup K was associated with severity types of ARHL in persons aged 50 to 59 years (odds ratio, 3.02; 95% confidence interval, 1.30-6.99). There was also a joint effect between mtDNA haplogroups U and K and other known hearing loss risk factors such as diabetes and past noise exposure.

CONCLUSION

Findings from this older Australian population demonstrate an association between certain mtDNA haplogroups and ARHL, as well as a link to the susceptibility of other known risk factors for ARHL.

摘要

目的

确定线粒体基因组变异是否会影响老年性听力损失(ARHL)的发病风险。

设计

横断面研究。

研究地点

符合条件的参与者是在澳大利亚悉尼西部两个郊区邮政编码区域的逐户普查中确定的49岁及以上非机构化常住居民。

参与者

蓝山听力研究(BMHS)是一项基于人群的听力损失调查,于1997年至1999年期间在蓝山眼研究队列的参与者中进行。

主要观察指标

我们将听力障碍定义为较好耳在500、1000、2000和4000赫兹处纯音听力阈值的平均值(>25但≤40分贝听力水平[HL][轻度听力损失],>40但≤60分贝HL[中度听力损失],或>60分贝HL[重度听力损失])。

结果

在2765名BMHS参与者中,912人(33%)被发现患有ARHL。在对其他听力损失风险因素进行调整后,与其他单倍群的受试者相比,线粒体DNA(mtDNA)单倍群U和K与ARHL的较高患病率独立相关。单倍群U与中度至重度ARHL显著相关(多变量调整比值比,1.63;95%置信区间,1.10 - 2.41)。单倍群K与50至59岁人群的ARHL严重程度类型相关(比值比,3.02;95%置信区间,1.30 - 6.99)。mtDNA单倍群U和K与糖尿病和既往噪声暴露等其他已知听力损失风险因素之间也存在联合效应。

结论

来自这个澳大利亚老年人群体的研究结果表明,某些mtDNA单倍群与ARHL之间存在关联,以及与ARHL其他已知风险因素的易感性之间存在联系。

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