Cardiovascular Disease and Mortality in Black Women Carrying the Amyloidogenic V122I Transthyretin Gene Variant.
Cardiovascular Disease and Mortality in Black Women Carrying the Amyloidogenic V122I Transthyretin Gene Variant.
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携带淀粉样变性 V122I 运甲状腺素蛋白基因变体的黑人女性的心血管疾病和死亡率。
DOI：
10.1016/j.jchf.2023.02.003
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发表时间：
2023
期刊：
影响因子：
--
通讯作者：
Wassertheil-Smoller,Sylvia
中科院分区：
文献类型：
--
作者：
Haring,Bernhard;Hunt,RebeccaP;Shadyab,AladdinH;Eaton,Charles;Kaplan,Robert;Martin,LisaWarsinger;Panjrath,Gurusher;Kuller,LewisH;Assimes,Themistocles;Kooperberg,Charles;Wassertheil-Smoller,Sylvia
背景关于转甲状腺素蛋白 (TTR) V122I (pV142I) 变异（遗传性转甲状腺素蛋白心脏淀粉样变性最常见的变异之一）女性携带者心血管疾病 (CVD) 和死亡率的长期数据很少，血压、心率、体重指数和体力活动对 CVD 结果的影响仍然很大程度上未知。 目的首先检查 TTRV122I (pV142I) 携带者状态的关系研究对象包括 9,862 名非西班牙裔黑人/非裔美国女性、9,529 名非携带者和 333 名 TTRV122I 携带者，他们在美国 40 个中心参加了妇女健康倡议。妇女在登记时（1993-1998 年）普遍健康且已绝经。 CVD被定义为由冠心病、中风、急性心力衰竭或CVD死亡以及全因死亡率组成的复合终点。 CVD 病例基于自我报告的年度邮寄健康更新。所有信息均由经过培训的医生集中裁决。 HR 和 95% CI 是通过调整后的 Cox 比例风险模型获得的。 结果在 9,862 名黑人女性参与者（平均年龄：62 岁 [IQR：56-67 岁]）中，TTRV122I 变异的人群频率为 3.4%（333 名变异携带者和 9,529 名非携带者）。在平均 16.1 年（IQR：9.7-22.2 年）的随访期间，2,229 名非携带者和 96 名携带者发生了 CVD，而 2,689 名非携带者和 108 名携带者死亡。在包括人口统计学、生活方式和病史协变量在内的调整模型中，TTRV122I携带者罹患复合终点CVD（HR：1.52；95% CI：1.22-1.88）、急性心力衰竭（HR：2.21；95% CI：1.53-3.18）、冠心病（HR：1.80；95% CI：1.22-1.88）、冠心病（HR：1.80；95% CI： 1.30-2.47）、CVD 死亡（HR：1.70；95% CI：1.26-2.30）和全因死亡率（HR：1.28；95% CI：1.04-1.56）。作者发现，年龄存在显着的交互作用，但血压、心率、体重指数或身体活动则没有显着的交互作用。 结论 与非携带者相比，黑人女性 TTRV122I (pV142I) 携带者具有更高的 CVD 和全因死亡风险。如果临床怀疑患有淀粉样变性，应筛查他们的 TTRV122I (pV142I) 携带者状态，以确保尽早开始治疗。
BackgroundLong-term data on cardiovascular disease (CVD) and mortality in female carriers of the transthyretin (TTR) V122I (pV142I) variant, one of the most common variants of hereditary transthyretin cardiac amyloidosis, are sparse and the effects of blood pressure, heart rate, body mass index, and physical activity on CVD outcomes remain largely unknown.ObjectivesThe aim was to first examine the relationship ofTTRV122I (pV142I) carrier status with CVD and mortality and second to investigate the effects of blood pressure, heart rate, body mass index, and physical activity in a large cohort of postmenopausal women.MethodsThe study population consisted of 9,862 non-Hispanic Black/African American women, 9,529 noncarriers and 333TTRV122I carriers, enrolled in the Women’s Health Initiative at 40 centers in the United States. Women were generally healthy and postmenopausal at the time of enrollment (1993-1998). CVD was defined as a composite endpoint consisting of coronary heart disease, stroke, acute heart failure or CVD death, and all-cause mortality. CVD cases were based on self-reported annual mailed health updates. All information was centrally adjudicated by trained physicians. HRs and 95% CIs were obtained from adjusted Cox proportional hazards models.ResultsAmong 9,862 Black female participants (mean age: 62 years [IQR: 56-67 years]), the population frequency of theTTRV122I variant was 3.4% (333 variant carriers and 9,529 noncarriers). During a mean follow-up of 16.1 years (IQR: 9.7-22.2 years), incident CVD occurred in 2,229 noncarriers and 96 carriers, whereas 2,689 noncarriers and 108 carriers died. In adjusted models including demographic, lifestyle, and medical history covariates,TTRV122I carriers were at higher risk of the composite endpoint CVD (HR: 1.52; 95% CI: 1.22-1.88), acute heart failure (HR: 2.21; 95% CI: 1.53-3.18), coronary heart disease (HR: 1.80; 95% CI: 1.30-2.47), CVD death (HR: 1.70; 95% CI: 1.26-2.30), and all-cause mortality (HR: 1.28; 95% CI: 1.04-1.56). The authors found a significant interaction by age but not by blood pressure, heart rate, body mass index, or physical activity.ConclusionsBlack femaleTTRV122I (pV142I) carriers have a higher CVD and all-cause mortality risk compared to noncarriers. In case of clinical suspicion of amyloidosis, they should be screened forTTRV122I (pV142I) carrier status to ensure early treatment onset.
酿酒酵母 GAL4 基因编码的两种蛋白质的鉴定
影响因子：
5.3
作者：
A. Laughon;R. Driscoll;N. Wills;R. Gesteland
通讯作者：
R. Gesteland
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DOI：
10.1016/0307-4412(85)90224-9
发表时间：
1985
期刊：
Biochemical Education
影响因子：
--
作者：
G. Blair
通讯作者：
G. Blair