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本文引用的文献

1
Cost and yield considerations when expanding recruitment for genetic studies: the primary open-angle African American glaucoma genetics study.扩大基因研究招募规模时的成本与收益考量：原发性开角型非裔美国人青光眼基因研究
BMC Med Res Methodol. 2017 Jul 14;17(1):101. doi: 10.1186/s12874-017-0374-9.
2
Primary open-angle glaucoma.原发性开角型青光眼
Nat Rev Dis Primers. 2016 Sep 22;2:16067. doi: 10.1038/nrdp.2016.67.
3
Risk Factors Associated with Progression to Blindness from Primary Open-Angle Glaucoma in an African-American Population.非裔美国人原发性开角型青光眼致盲进展的相关危险因素
Ophthalmic Epidemiol. 2016 Aug;23(4):248-56. doi: 10.1080/09286586.2016.1193207. Epub 2016 Jun 27.
4
The primary open-angle african american glaucoma genetics study: baseline demographics.原发性开角型非裔美国人青光眼遗传学研究：基线人口统计学数据
Ophthalmology. 2015 Apr;122(4):711-20. doi: 10.1016/j.ophtha.2014.11.015. Epub 2015 Jan 8.
5
Analysis of glaucoma-related mortality in the United States using death certificate data.利用死亡证明数据对美国青光眼相关死亡率进行分析。
J Glaucoma. 2008 Sep;17(6):474-9. doi: 10.1097/IJG.0b013e318163bdbd.
6
Impact of glaucoma, lens opacities, and cataract surgery on visual functioning and related quality of life: the Barbados Eye Studies.青光眼、晶状体混浊及白内障手术对视觉功能和相关生活质量的影响：巴巴多斯眼科研究
Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1333-8. doi: 10.1167/iovs.07-1252.
7
Open-angle glaucoma and mortality: The Barbados Eye Studies.开角型青光眼与死亡率：巴巴多斯眼病研究
Arch Ophthalmol. 2008 Mar;126(3):365-70. doi: 10.1001/archophthalmol.2007.77.
8
Estimating the rate of progressive visual field damage in those with open-angle glaucoma, from cross-sectional data.根据横断面数据估算开角型青光眼患者的渐进性视野损害发生率。
Invest Ophthalmol Vis Sci. 2008 Jan;49(1):66-76. doi: 10.1167/iovs.07-0866.
9
Genetic contributions to glaucoma: heritability of intraocular pressure, retinal nerve fiber layer thickness, and optic disc morphology.青光眼的遗传因素：眼压、视网膜神经纤维层厚度和视盘形态的遗传性。
Invest Ophthalmol Vis Sci. 2007 Aug;48(8):3669-76. doi: 10.1167/iovs.06-1519.
10
Risk factors for incident open-angle glaucoma: the Barbados Eye Studies.原发性开角型青光眼发病的危险因素：巴巴多斯眼科研究
Ophthalmology. 2008 Jan;115(1):85-93. doi: 10.1016/j.ophtha.2007.03.017. Epub 2007 Jul 16.

家族史在原发性开角型青光眼遗传学研究队列中的作用。

Family History in the Primary Open-Angle African American Glaucoma Genetics Study Cohort.

机构信息

Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA. Electronic address: joan.o'

Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

出版信息

Am J Ophthalmol. 2018 Aug;192:239-247. doi: 10.1016/j.ajo.2018.03.014. Epub 2018 Mar 17.

DOI:10.1016/j.ajo.2018.03.014
PMID:29555482
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6064667/
Abstract

PURPOSE

To determine the relationship between positive family history (FH) and primary open-angle glaucoma (POAG) diagnosis and clinical presentation in the Primary Open-Angle African American Glaucoma Genetics (POAAGG) cohort.

METHODS

FH of POAG in first-degree relatives was assessed in 2365 subjects in the POAAGG cohort. A standardized interview was used to assess FH of glaucoma, demographic characteristics, lifestyle choices, and medical and ocular comorbidities.

RESULTS

Positive FH was associated with increased risk of POAG (age-adjusted odds ratio and 95% confidence interval 3.4 [2.8, 4.1]). In age-adjusted analysis among POAG cases, positive FH was associated with younger age (P < .001), female sex (P < .001), hypertension (P = .006), use of hypertension medication (P = .03), and prior glaucoma surgery (P = .02). Cases with positive FH also had thicker retinal nerve fiber layers (P = .03).

CONCLUSIONS

The risk conferred by positive FH suggests strong genetic underpinnings for some patients with this disease, which will be investigated by genome-wide association studies and whole exome sequencing. NOTE: Publication of this article is sponsored by the American Ophthalmological Society.

摘要

目的

在原发性开角型非洲裔美国人青光眼遗传学（POAAGG）队列中，确定阳性家族史（FH）与原发性开角型青光眼（POAG）诊断和临床表现之间的关系。

方法

在 POAAGG 队列的 2365 名受试者中评估一级亲属的 POAG FH。使用标准化访谈评估青光眼、人口统计学特征、生活方式选择以及医疗和眼部合并症的 FH。

结果

阳性 FH 与 POAG 的风险增加相关（年龄调整后的优势比和 95%置信区间为 3.4 [2.8, 4.1]）。在 POAG 病例的年龄调整分析中，阳性 FH 与更年轻的年龄（P <.001）、女性（P <.001）、高血压（P =.006）、高血压药物的使用（P =.03）和先前的青光眼手术（P =.02）相关。阳性 FH 的病例还具有更厚的视网膜神经纤维层（P =.03）。

结论

阳性 FH 带来的风险表明，该疾病的一些患者具有很强的遗传基础，这将通过全基因组关联研究和全外显子组测序进行研究。 注：本文的发表得到了美国眼科学会的赞助。