A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy
A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy
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DOI：
10.1016/s0002-9394(00)00603-6
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发表时间：
2000-12-01
影响因子：
4.2
通讯作者：
Newman, NJ
中科院分区：
文献类型：
--
作者：
Kerrison, JB;Miller, NR;Newman, NJ
目的：确定吸烟或饮酒是否与携带致病性线粒体突变的兄弟姐妹视力下降有关，这些突变与Leber遗传性视神经病变有关。方法：回顾性病例对照研究，对80例Leber遗传性视神经病变的兄弟姐妹进行问卷调查。兄弟姐妹在11778（63）、14484（10）和3460(7)的核苷酸位置上存在分子证实的线粒体DNA突变。受影响个体的暴露量是根据视力丧失前报告的消费量来计算的。结果：在男性先证者（67个兄弟姐妹）中，男性兄弟姐妹内的复发风险为10.3%（78人中有8人），女性为3.1%（98人中有3人）。对于女性先证（13个兄弟姐妹），男性在兄弟姐妹中的复发风险为17.6%（17人中有3人），女性为0%（22人中有0人）。视力丧失的风险与男性相关（优势比[OR] = 6.63； 95%可信区间[CI] = 2.96至14.843 P = 0.00001），与11778突变相比，其突变值为3460或14484 （OR = 2.071; 959% CI = 1.19至3.58;P = 0.0095）。没有观察到最大吸烟强度或累积吸烟（无论是轻的还是重的）与视力丧失有显著关联。在调整了年龄、性别和突变后，轻度饮酒者（OR = 0.31; 95% CI = 0.17至0.56;P = 0.0001）和重度饮酒者（OR = 0.25; 95% CI = 0.11至0.58;P = 0.0011）比不饮酒者更不容易受到影响。在对携带3460或14484突变的兄弟姐妹进行的分类分析中，没有观察到视力丧失与吸烟或饮酒的关系。结论：与以往的研究不同，本研究基于视力丧失前自我报告的烟草或酒精消费来计算暴露。在Leber遗传性视神经病变突变个体中，烟草或酒精消费与视力丧失之间没有明显的有害关联。烟草和酒精似乎不会促进Leber遗传性视神经病变的视力丧失。(C) 2000年由爱思唯尔科学公司版权所有。
PURPOSE: To determine if tobacco or alcohol consumption is associated with vision loss among sibships harboring pathogenic mitochondrial mutations associated with Leber hereditary optic neuropathy.METHODS: Retrospective case control study with questionnaires obtained from both affected and unaffected siblings from 80 sibships with Leber hereditary optic neuropathy. Sibships harbored molecularly confirmed mitochondrial DNA mutations at nucleotide positions 11778 (63), 14484 (10), and 3460 (7). Exposure in affected individuals was calculated based on reported consumption before vision loss.RESULTS: For male probands (67 sibships), the recurrence risk within a sibship was 10.3% (eight of 78) for males and 3.1% (three of 98) for females. For female probands (13 sibships), the recurrence risk within a sibship was 17.6% (three of 17) for males and 0% (zero of 22) for females. Greater risk of vision loss was associated with male sex (odds ratio [OR] = 6.63; 95% confidence interval [CI] = 2.96 to 14.843 P = .00001) and harboring a 3460 or 14484 in comparison with the 11778 mutation (OR = 2.071; 959% CI = 1.19 to 3.58; P = .0095). No significant association of maximal intensity of smoking or cumulative smoking, whether light or heavy, with vision loss was observed. Light (OR = 0.31; 95% CI = 0.17 to 0,56; P = .0001) and heavy alcohol consumers (OR = 0.25; 95% CI = 0.11 to 0.58; P = .0011) were less likely to be affected than individuals who did not consume alcohol after adjusting for age, sex, and mutation. In a categorical analysis of sibships with the 3460 or 14484 mutation, no relationship of vision loss with tobacco or alcohol consumption was observed.CONCLUSION: Unlike previous studies, the present study calculated exposure based on self-reported consumption of tobacco or alcohol before vision loss, No significant deleterious association between tobacco or alcohol consumption and vision loss among individuals harboring Leber hereditary optic neuropathy mutations was observed. Tobacco and alcohol do not appear to promote vision loss in Leber hereditary optic neuropathy. (C) 2000 by Elsevier Science Inc. All rights reserved.