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ALDH2 rs671 polymorphism and the risk of heart failure with preserved ejection fraction (HFpEF) in patients with cardiovascular diseases.
Journal of Human Hypertension ( IF 2.7 ) Pub Date : 2019-03-07 , DOI: 10.1038/s41371-019-0182-2 Chun-Lei Xia 1 , Peng Chu 1 , Yi-Xian Liu 1 , Xin-Liang Qu 1 , Xiao-Fei Gao 1 , Zhi-Mei Wang 1 , Jing Dong 2 , Shao-Liang Chen 1 , Jun-Xia Zhang 1
Journal of Human Hypertension ( IF 2.7 ) Pub Date : 2019-03-07 , DOI: 10.1038/s41371-019-0182-2 Chun-Lei Xia 1 , Peng Chu 1 , Yi-Xian Liu 1 , Xin-Liang Qu 1 , Xiao-Fei Gao 1 , Zhi-Mei Wang 1 , Jing Dong 2 , Shao-Liang Chen 1 , Jun-Xia Zhang 1
Affiliation
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Aldehyde dehydrogenase 2 (ALDH2) rs671 polymorphism is an established genetic risk of hypertension, diabetes, and coronary heart diseases in Asian population. Previous experimental data showed ALDH2 regulated inflammation, a potential mechanism of heart failure with preserved ejection fraction (HFpEF). However, clinically, the association between ALDH2 polymorphism and incidence of HFpEF remains unknown. In this prospective cross-sectional study, ALDH2 genotyping was performed in 613 consecutive patients enrolled with cardiovascular diseases (CVDs), including hypertension, coronary heart diseases, and/or diabetes mellitus, with normal left ventricular ejection fraction (LVEF). HFpEF was diagnosed according to symptoms and/or signs of dyspnea, fatigue or ankle swelling, N-terminal pro-B-Type natriuretic peptide (NT pro-BNP ≥ 280 pg/mL), LVEF ≥ 50%, and at least one additional criterion: left atrial enlargement (left atrial diameter > 40 mm), diastolic dysfunction (E/E' ≥ 13 or E'/A' < 1) or concurrently with atrial fibrillation. Finally, of 613 patients with CVD, 379 patients (61.8%) were assigned to the wild-type ALDH2*1/*1 group and 234 patients (38.2%) to the mutation-type ALDH2*2 group according to genotyping results. Sixty-nine patients (11.3%) were diagnosed with HFpEF. In ALDH2*2 group, the occurrence of HFpEF was higher (15.4% vs. 8.7%, p = 0.011) than that in ALDH2*1/*1 group. Leukocyte count, the indicator of systemic inflammation, was significantly higher (6.9 ± 2.4 × 109/L vs. 6.5 ± 1.9 × 109/L, p = 0.010) in ALDH2*2 group compared to ALDH2*1/*1 group. In conclusion, ALDH2*2 variant is associated with the risk of HFpEF in patients with CVD. Increased systemic inflammation probably involved in this disease process.
中文翻译：
ALDH2 rs671基因多态性与心血管疾病患者射血分数保留（HFpEF）的心力衰竭风险。
醛脱氢酶2（ALDH2）rs671多态性是亚洲人群中高血压，糖尿病和冠心病的既定遗传风险。先前的实验数据表明，ALDH2调节炎症，这是一种心衰的潜在机制，其射血分数（HFpEF）保持不变。但是，在临床上，ALDH2多态性与HFpEF发生率之间的关联仍然未知。在这项前瞻性横断面研究中，对613例患有心血管疾病（CVD）的连续患者进行了ALDH2基因分型，包括高血压，冠心病和/或糖尿病，且左室射血分数（LVEF）正常。根据呼吸困难，疲劳或脚踝肿胀的症状和/或体征，N端前B型利尿钠肽（NT pro-BNP≥280 pg / mL），LVEF≥50％，至少一项附加标准：左房扩大（左房直径> 40 mm），舒张功能障碍（E / E'≥13或E'/ A'<1）或并发房颤。最后，根据基因分型结果，在613例CVD患者中，将379例患者（61.8％）分配为野生型ALDH2 * 1 / * 1组，将234例患者（38.2％）分配为突变型ALDH2 * 2组。六十九例（11.3％）被诊断患有HFpEF。在ALDH2 * 2组中，HFpEF的发生率高于ALDH2 * 1 / * 1组（15.4％比8.7％，p = 0.011）。与ALDH2 * 1 / * 1组相比，ALDH2 * 2组的白细胞计数（全身性炎症指标）明显更高（6.9±2.4×109 / L与6.5±1.9×109 / L，p = 0.010）。总之，ALDH2 * 2变异与CVD患者的HFpEF风险有关。
更新日期：2019-07-05
中文翻译：
ALDH2 rs671基因多态性与心血管疾病患者射血分数保留（HFpEF）的心力衰竭风险。
醛脱氢酶2（ALDH2）rs671多态性是亚洲人群中高血压，糖尿病和冠心病的既定遗传风险。先前的实验数据表明，ALDH2调节炎症，这是一种心衰的潜在机制，其射血分数（HFpEF）保持不变。但是，在临床上，ALDH2多态性与HFpEF发生率之间的关联仍然未知。在这项前瞻性横断面研究中，对613例患有心血管疾病（CVD）的连续患者进行了ALDH2基因分型，包括高血压，冠心病和/或糖尿病，且左室射血分数（LVEF）正常。根据呼吸困难，疲劳或脚踝肿胀的症状和/或体征，N端前B型利尿钠肽（NT pro-BNP≥280 pg / mL），LVEF≥50％，至少一项附加标准：左房扩大（左房直径> 40 mm），舒张功能障碍（E / E'≥13或E'/ A'<1）或并发房颤。最后，根据基因分型结果，在613例CVD患者中，将379例患者（61.8％）分配为野生型ALDH2 * 1 / * 1组，将234例患者（38.2％）分配为突变型ALDH2 * 2组。六十九例（11.3％）被诊断患有HFpEF。在ALDH2 * 2组中，HFpEF的发生率高于ALDH2 * 1 / * 1组（15.4％比8.7％，p = 0.011）。与ALDH2 * 1 / * 1组相比，ALDH2 * 2组的白细胞计数（全身性炎症指标）明显更高（6.9±2.4×109 / L与6.5±1.9×109 / L，p = 0.010）。总之，ALDH2 * 2变异与CVD患者的HFpEF风险有关。
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