Apelin/APJ通路基因多态性与代谢综合征及apelin水平的关系

目的探讨福建地区apelin/APJ通路基因多态性与代谢综合征(MS)及其相关组分以及血浆apelin的关系。方法纳入2015年2月至2016年2月福建医科大学附属第一医院心血管内科住院患者1018例,其中MS组457例,非MS组561例,酶联免疫吸附试验(ELISA)法检测血浆apelin36浓度,连接酶检测反应(LDR)探针法检测apelin/APJ基因分型。比较两组间等位基因频率分布情况、不同等位基因分组中各MS组分以及apelin浓度的差异性。结果男性MS受试者apelin基因rs3115757位点的C突变等位基因频率明显高于非MS组(P0.05);女性MS受试者APJ基因rs7119375位点的A突变等位基因频率明显低于非MS组(P0.05);Logistic回归分析显示,调整年龄、吸烟、饮酒后,女性携带rs7119375 A突变等位基因者较携带野生等位基因者患MS的风险减少35.4%(OR=0.646,P0.05)。男性APJ位点rs7119375A、rs10501367T突变等位基因组受试者的空腹血糖高于野生等位基因组(均P0.05)。调整年龄、腰围、吸烟、饮酒后,Logistic回归分析显示男性携带rs7119375 A、rs10501367T突变等位基因是血糖异常的独立相关因素(OR=1.374、1.443,均P0.05)。男性APJ位点rs10501367不同基因型间的血浆apelin浓度差异有统计学意义(P0.05),携带TT突变基因型个体的血浆apelin浓度小于CC基因型和CT基因型(均P0.05),而携带CC基因型个体的血浆apelin浓度与CT基因型差异无统计学意义(P0.05)。结论 Apelin/APJ通路基因多态性与MS及血糖异常以及血浆apelin水平明显相关,并且存在性别差异。     

社区非糖尿病人群颈围和胰岛素抵抗的相关性分析

目的 分析和探索中国社区人群健康成人的颈围和胰岛素抵抗的相关性.方法 选择常住江苏徐州地区的社Ⅸ健康人群2 31 8名为研究对象,检测受试者颈围、身高、腰围、臀围、体重和甘油三酯、总胆固醇、高密度脂蛋白胆固醇(H DL-C)、低密度脂蛋白胆固醇(LDL-C)、空腹血糖和餐后2 h血糖等相关生化指标.胰岛素抵抗以稳态模型评估的胰岛素抵抗指数(HOMA-IR)来评价.结果 颈围和年龄、体重指数(BMI)、腰围、臀围、腰臀比、收缩压、舒张压、甘油三酯、总胆固醇、LDL-C、尿酸正相关,与HDL-C负相关.校正年龄和其他心血管代谢危险因素后,无论男性和女性,颈围和HOMA-IR的增加趋势显著相关,进一步校正BMI和腰围后,这种相关性并没有明显变化.颈围和BMI或腰围对HOMA-IR有显著的叠加作用(P＜0.01);在较大BMI和较大腰围的个体,颈围和HOMA-IR的相关性更明显.结论 在中国健康成人中,颈围和胰岛素抵抗、心血管代谢危险因素独立相关,并且和BMI、腰围有交互作用.     

乙醛脱氢酶2基因 rs671多态性和新疆汉族人群原发性高血压的关联性研究

目的：探讨乙醛脱氢酶2（ALDH2）基因 rs671多态性在新疆地区汉族人群原发性高血压（EH）发病中的作用。方法应用 Taqman 技术检测了474例汉族 EH 患者和358例正常血压者 ALDH2基因 rs671多态性。结果在男性人群中,饮酒组 rs671的 GA ＋AA 基因型频率和 A 等位基因频率均明显低于不饮酒组（P ＜0．01）;EH 组 rs671的 GA ＋AA 基因型频率和 A 等位基因频率均明显低于对照组（P ＜0．01）。而在女性人群中,EH 组和对照组 rs671的 3 种基因型频率和等位基因频率的分布差异无统计学意义（P ＞0．05）。非条件 Logistic 回归分析校正年龄、体重指数、糖尿病史、饮酒史等影响因素后,在男性人群中 rs671的 GA ＋AA 基因型者患 EH 的风险低于 GG基因型者（OR ＝0．656,95％CI：0．448～0．962,P ＜0．05）,GA ＋AA 基因型者收缩压水平明显低于GG 型者（P ＜0．05）。而在男性不饮酒者和女性人群中,GA ＋AA 基因型者和 GG 基因型者血压水平比较差异无统计学意义。结论ALDH2基因 rs671多态性可能和新疆汉族男性人群 EH 的发生相关,rs671的 GA ＋AA 基因型可能是汉族男性人群 EH 的一个保护因素。     

β2肾上腺素能受体基因多态性与原发性高血压的相关性研究

目的:检测贵州汉族人群β2 肾上腺素能受体基因Gln27Glu多态性,并探讨其与贵州汉族人群原发性高血压(EH)以及其他心血管病危险因素的关系。方法:选择131例EH患者及40例正常人为对象,通过聚合酶链反应确定基因型,并测定每个对象的体质指数(BMI)、腰围、臀围、腰围/臀围、空腹血三酰甘油(TG)、总胆固醇(TC)、低密度脂蛋白胆固醇(LDL- C)、高密度脂蛋白胆固醇(HDL- C)以及LP(α)等。结果:①Gln27Glu多态性的基因型频率和等位基因频率在EH组和对照组间差异无统计学意义 (P>0.05),但 Glu27/Glu、Gln27/Glu基因型频率和Glu27等位基因频率在3级EH组的比例明显高于其在对照组及 1、2 级 EH组的比例(P<0.05);②Glu27/Glu、Gln27/Glu两种基因型个体的TC显著高于 Gln27/Gln基因型个体 (P<0.05),而 BMI、腰围/臀围、TG、LDL- C、HDL- C以及LP(α)等在三种基因型之间差异无统计学意义(P>0.05)。结论:Gln27Glu基因多态性与3级EH及TC有关联。     

mTOR基因多态性与冠心病遗传易感的关联研究

目的]探讨哺乳动物雷帕霉素靶蛋白(mTOR)基因多态性与华南地区汉族人群冠心病遗传易感的相关性,为冠心病的早期预防与干预提供新的思路。 [方法]利用聚合酶链反应-连接酶检测反应(PCR-LDR)技术对804例冠心病患者和979例对照个体的mTOR基因多态位点进行分型,检测mTOR基因的两个多态性位点rs2295079和rs1883965的基因型,用非条件Logistic回归分析统计各多态位点与冠心病易感的相关性。 [结果]rs2295079和rs1883965的等位基因、基因型频率在冠心病组与对照组中的分布均无统计学差异(P＞0.05);这两个位点构建的单体型rs2295079C-rs1883965A在冠心病组与对照组中的分布频率分别是8.3%、6.5%,冠心病组显著高于对照组;携带rs2295079C-rs1883965A单体型个体罹患冠心病的风险显著增加(OR＝1.29,P＝0.047),该单体型在年龄≤60岁的人群中罹患冠心病的风险更为显著(OR＝1.73,P＝0.009)。 [结论]mTOR基因的单体型rs2295079C-rs1883965A与冠心病遗传易感密切相关,且在年龄≤60岁的人群中更加明显,提示该单体型可能是增加华南地区汉族人群冠心病发病风险的重要危险因素。     

新疆地区LIPG和GUCY1A3基因多态性与冠心病的相关性研究

目的:探讨新疆地区人群中GUCY1A3的rs7692307及LIPG的rs2000813、rs3813082基因的单核苷酸多态性(SNPs)与冠心病的相关性。方法:纳入研究对象共1883例,其中冠心病组959例,对照组924例,检测GUCY1A3、LIPG基因的SNPs位点多态性。结果:GUCY1A3 rs7692307均为GG基因型,无研究意义。两组间比较后,LIPG rs3813082、rs2000813基因型频率和等位基因频率均无明显差异。根据性别分层后,女性人群中LIPG rs2000813基因型分布频率在两组中有显著差异(P0.05),且LIPG rs2000813位点上的C等位基因是女性冠心病的独立危险因素之一。结论:LIPG rs2000813位点上的C等位基因对于冠心病的发生具有性别特异性,是女性冠心病的独立危险因素之一,而未见其对男性冠心病的发生有影响。     

TCF7L2基因rs7903146T/C和rs7901695T/C单核苷酸多态性与内蒙古汉族人群2型糖尿病易感性的相关性研究

目的研究内蒙古地区汉族人群中T2DM易感性与TCF7L2基因rs7903146T/C和rs7901695T/C位点单核苷酸多态性(SNPs)是否相关。方法收集T2DM患者和正常体检人群的抗凝血,采用等位基因特异性PCR(AS-PCR)进行SNPs分析;运用SHEsis软件对T2DM组和正常对照(NC)组的TCF7L2基因的SNPs位点进行连锁不平衡和单倍型分析。结果rs7903146T/C和rs7901695T/C位点的基因型分布在T2DM及NC组间的分布差异无统计学意义(P>0.05),但rs7903146T/C位点的T和C等位基因频率在两组间的分布差异有统计学意义(P<0.05)。rs7903146T/C和rs7901695T/C位点连锁平衡(D′=0.060),rs7901695T-rs7903146T单倍型在T2DM组的频率明显高于NC组(P<0.01,OR=1.803,95%CI:1.183～2.7487)。结论在内蒙古地区汉族人群,rs7903146位点C→T多态性可能与T2DM关联,携带突变等位基因T可增加罹患T2DM的风险,rs7901695位点C→T多态性与T2DM易感性无明显相关性,但rs7901695T-rs7903146T单倍型与T2DM发病风险相关。     

9p21位点单核苷酸多态性与无症状颅内、外动脉狭窄的关联

目的 :在无症状人群中评估9p21位点多态性与颅内、外动脉狭窄的关联。方法 :纳入889例无卒中史高血压患者,收集一般资料,检测血、尿样本并提取全血DNA。采用CT血管成像(CT angiography,CTA)评估颅内、外动脉狭窄。选取位于9p21的位点rs1333049和rs2383207进行分型。结果:纳入人群中46.2%颅内、外动脉无狭窄,21.4%仅颅内狭窄,15.4%仅颅外狭窄,17.0%颅内、外共存狭窄。所选位点在校正多重危险因素后与颅内、外共存狭窄显著相关(P=0.011和0.017);rs2383207-A等位基因携带显著与降低的狭窄程度相关(P=0.009),与较少的病变数目无关(P=0.063)。结论:9p21位点rs1333049和rs2383207与无症状颅内、外共存动脉狭窄显著相关,可用于评估全身动脉粥样硬化的水平。     

NPY2R基因5'调控区rs6851222多态与原发性高血压患病风险的关系

目的:研究NPY2R基因5'调控区rs6851222位点与云南彝族原发性高血压发生的关系。方法:研究对象为400例彝族人群,原发性高血压患者和正常对照个体各200例。运用直接测序的方法,对NPY2R基因5'调控区rs6851222多态性进行检测,分析其与云南彝族人群原发性高血压的关系。结果:本研究共检测到AA、AG和GG这3种基因型,并且rs6851222位点基因型分布在原发性高血压组和正常对照组中均符合HardyWeinberg平衡。rs6851222等位基因和基因型频率在原发性高血压组和对照组间的分布均具有显著性差异(P0.05),回归分析结果显示rs6851222A等位基因携带者的患病风险显著升高(OR=1.77,95%CI 1.32~2.38,P=0.000 1)。结论:本研究结果提示NPY2R基因5'调控区rs6851222位点与云南彝族原发性高血压发生相关,该位点A等位基因可增加原发性高血压发病风险。     

ITPA基因变异与干扰素联合利巴韦林治疗过程中发生贫血的相关性

目的探讨C20orf194基因rs6051702位点和ITPA基因rs1127354位点与慢性丙型肝炎治疗过程中利巴韦林引起的溶血性贫血之间的相关性。方法入选慢性丙型肝炎患者742例、健康人群203例,提取上述两组人群的基因组DNA进行两个位点的焦磷酸测序;对208名慢性丙型肝炎患者进行干扰素联合利巴韦林抗病毒治疗,并在抗病毒治疗的基线、2 w、4 w、12 w对患者进行血常规、HCV RNA定量检测。用SAS9.0软件进行分析。结果 (1)我国健康人群rs6051702及rs1127354位点的最小等位基因频率分别为15.3%、15.8%,与欧洲和日本接近,但水平略低。(2)2、4、12 w血红蛋白下降量与rs1127354位点的不同基因型的关系有统计学意义(均P<0.05),A等位基因具有保护作用。(3)2、4、12 w血红蛋白下降量与rs6051702位点的不同基因型的关系无显著差异(均P>0.05)。(4)rs1127354位点4 w血红蛋白降低超过3 g/dl的CC组与AC+AA组存在差别(P=0.001)。结论 (1)rs6051702位点、rs1127354位点在慢性HCV感染者、健康人群之间没有显著差异。(2)rs6051702位点与抗HCV治疗过程中血红蛋白下降量无相关性。(3)ITPA基因rs1127354位点与抗HCV治疗过程中血红蛋白下降量呈明显相关,含A等位基因(AC和AA型)的患者贫血程度较CC型的低,提示A等位基因为保护基因,可用来预测患者抗HCV治疗过程中血红蛋白下降的程度,并指导早期调整利巴韦林剂量。     

Insulin resistance, body mass index, waist circumference are independent risk factor for high blood pressure

OBJECTIVES: The purpose of the present study was to investigate the relationships between blood pressure (BP), insulin resistance as determined by a homeostasis model (HOMA-IR), and body fat distribution. METHODS: Anthropometric indices of adiposity, metabolic variables (fasting serum insulin and a homeostasis model assessment [HOMA] index of insulin sensitivity), BP and several cardiovascular risk factors were measured during a cross sectional survey of 53477 apparently healthy Korean subjects who requested a health status check. Hypertension was defined as a systolic BP > or = 140 mmHg or a diastolic BP > or = 90 mmHg and we excluded the subjects taking BP-lowering medication. RESULTS: Systolic and diastolic blood pressure (SBP, DBP) were positively and significantly associated with age, body mass index, waist circumference, and waist/hip ratio. In addition, SBP and DBP were positively associated with fasting serum insulin levels and the HOMA index. By multiple regression analysis age, waist circumference, body mass index, HOMA index and female sex were independently associated with either increased SBP or DBP. When the population is divided into quintiles according to insulin resistance (measured by HOMA analysis) prevalence of hypertension in the second, third, fourth and fifth quintiles compared to subjects in the first quintile are 1.004(95% CI 0.875-1.152, p = 0.957), 1.200(95% CI 1.052-1.369, p = 0.007), 1.312(95% CI 1.151-1.494 p < 0.001 ), and 1.603(95% CI 1.408-1.825 p < 0.001). In addition age, sex, body mass index and waist circumference were found to be significantly associated with hypertension. CONCLUSION: Our results showed that insulin resistance, body mass index and waist circumference are independent risk factors of a high BP in Koreans.     

Adiponectin Genotype,Blood Pressures,and Arterial Stiffness: The Cardiometabolic Risk in Chinese (CRC) Study

The authors examined whether the adiponectin gene (ADIPOQ) variant was associated with blood pressure and arterial stiffness in Chinese adults. A genome‐wide association study of the adiponectin variant rs864265 in the ADIPOQ gene was genotyped in a total of 2364 participants. After adjustment for sex, age, body mass index (BMI), fasting glucose, and lipids, participants carrying the T allele of rs864265 showed a greater increase in carotid‐femoral pulse wave velocity (cfPWV) and systolic blood pressure (SBP). Further adjustment for blood pressure did not appreciably change the association with cfPWV. The authors found significant interactions between rs864265 and BMI, waist circumference, body fat percentage, and SBP in relation to cfPWV (P for interaction = .035, .001, .003, .013, respectively). The T allele of rs864265 was associated with high blood pressure and arterial stiffness. BMI, body fat percentage, waist circumference, and SBP might modify the effects of genetic polymorphism on arterial stiffness.     

体重及脂肪分布与高血压病关系的流行病学研究

目的:探讨体重及脂肪分布与高血压病的相关性。方法:采取整群随机抽样的方法选择徐州市大屯社区259位中年居民为调查对象,运用病例对照研究,测量体重指数(BM I)、腰臀比(WHR)、腰围(W C)、臀围(HC)等参数数值,并作统计学处理。结果:(1)高血压组中的体重、体重指数、腰围、臀围、腰臀比高于对照组(P<0.05);高血压合并冠心病组中的腰围、臀围高于对照组(P<0.05);(2)腰臀比与年龄、收缩压、舒张压、尿酸、血糖、甘油三酯、体重呈正相关(r=0.17~0.305,P<0.05);体重指数与收缩压、舒张压、尿酸、甘油三酯、腰围、臀围呈正相关(r=0.299~0.670,P<0.05);(3)腹部肥胖型在各病例组中所占的比例明显高于对照组(P<0.05)。结论:超重、肥胖尤其是腹部肥胖型是高血压病的危险因素。     

Leptin concentrations in relation to overall adiposity, fat distribution, and blood pressure in a rural Chinese population

OBJECTIVE: To examine the associations between leptin levels and body mass index (BMI), fat distribution (reflected by waist to hip ratio and skinfold measurements), and blood pressure in a rural Chinese population. DESIGN AND SUBJECTS: A cross-sectional study of 294 participants who provided blood samples. MEASUREMENTS: Plasma concentrations of leptin, BMI, waist to hip ratio, skinfold thickness, and blood pressure. RESULTS: The average leptin concentration was 5.2 microg/l (3.1 for men and 7.3 for women). In univariate analyses, leptin levels were significantly correlated with BMI (r=0.47), abdominal skinfold thickness (r=0.53), triceps skinfold thickness (r=0.56), waist circumference (r=0.41), hip circumference (r=0.51), waist to hip ratio (r=0.17), and diastolic blood pressure (r=0.13). In multivariate analyses controlling for age, sex, education, current smoking, and alcohol use, independent associations between leptin levels and BMI, waist to hip ratio, waist circumference, and abdominal skinfold thickness remained. However, the significant association between leptin and blood pressure disappeared after adjusting for BMI, whereas the association between BMI and blood pressure persisted after adjusting for leptin level. CONCLUSIONS: We observed a strong positive relationship between overall adiposity and leptin levels in both men and women in a rural Chinese population. In addition, leptin concentrations were significantly associated with central obesity measured by waist to hip ratio and abdominal skinfold, independent of overall obesity. The observed positive association between leptin and blood pressure was largely explained by BMI. International Journal of Obesity (2001) 25, 121-125     

重庆地区人群体重指数腰围与血压水平及高血压关系的分析

目的 探讨重庆地区人群体重指数（BMI）、腰围（WC）与血压水平及高血压的关系。方法 采用分层整群抽样的方法,抽取重庆地区15岁以上城乡人口5246人进行血压、脉搏、身高、体重、腰围、臀围的测量,并问卷调查。结果 重庆地区人群收缩压、舒张压水平及高血压患病率均随着BMI的增加呈明显的线性上升趋势（线性趋势检验P〈0．01）。腹型肥胖的人群收缩压、舒张压水平及高血压患病率均高于腰围正常的人群,差异均有统计学意义（线性趋势检验P〈0．01）。按BMI分组[〈18．5、18．5～23．9、24．0～27．9、≥28．0（kg／m。）]的高血压患病率分别为9．39％、13．51％、26．23％、32．21％;按WC分组（男〈85cm或女〈80cm,男≥85cm或女≥80cm）的高血压患病率分别为12、39％、28．81％。结论 重庆地区人群血压水平及高血压患病率均与BMI、WC密切相关。BMI、WC是高血压的重要危险因素,对于高血压的发生有着重要的预测作用。     

Insulin Resistance,Body Mass Index,Waist Circumference are Independent Risk Factor for High Blood Pressure

Objectives: The purpose of the present study was to investigate the relationships between blood pressure (BP), insulin resistance as determined by a homeostasis model (HOMA‐IR), and body fat distribution. Methods: Anthropometric indices of adiposity, metabolic variables (fasting serum insulin and a homeostasis model assessment [HOMA] index of insulin sensitivity), BP and several cardiovascular risk factors were measured during a cross sectional survey of 53477 apparently healthy Korean subjects who requested a health status check. Hypertension was defined as a systolic BP ≥ 140 mmHg or a diastolic BP ≥ 90 mmHg and we excluded the subjects taking BP‐lowering medication. Results: Systolic and diastolic blood pressure (SBP, DBP) were positively and significantly associated with age, body mass index, waist circumference, and waist/hip ratio. In addition, SBP and DBP were positively associated with fasting serum insulin levels and the HOMA index. By multiple regression analysis age, waist circumference, body mass index, HOMA index and female sex were independently associated with either increased SBP or DBP. When the population is divided into quintiles according to insulin resistance (measured by HOMA analysis) prevalence of hypertension in the second, third, fourth and fifth quintiles compared to subjects in the first quintile are 1.004(95% CI 0.875–1.152, p=0.957), 1.200(95% CI 1.052–1.369, p=0.007), 1.312(95% CI 1.151–1.494 p < 0.001), and 1.603(95% CI 1.408–1.825 p < 0.001). In addition age, sex, body mass index and waist circumference were found to be significantly associated with hypertension. Conclusion: Our results showed that insulin resistance, body mass index and waist circumference are independent risk factors of a high BP in Koreans.     

Fat distribution, body mass index and blood pressure in 22,090 men and women in the Norfolk cohort of the European Prospective Investigation into Cancer and Nutrition (EPIC-Norfolk) study

OBJECTIVE: To determine the relation between fat distribution and blood pressure, independent of body mass index. DESIGN: Cross-sectional, population-based study. PARTICIPANTS AND METHODS: Participants, 9936 men and 12,154 women aged 45-79 years, were recruited from general practices in Norfolk, United Kingdom for the European Prospective Investigation into Cancer and Nutrition (EPIC-Norfolk) study. Participants filled in a health and lifestyle questionnaire and their blood pressure and anthropometry were measured at a clinic. We mainly used waist-hip ratio (WHR) to assess body fat distribution. RESULTS: Systolic blood pressure (SBP) and diastolic blood pressure (DBP) increased linearly across the whole range of waist-hip ratio in both men and women. The relation was independent of age, body mass index (BMI) and other covariates. Separately, waist and hip circumferences were positively related to SBP and DBP. When adjusted for BMI, waist circumference was positively related to SBP (in women) and DBP (in both men and women), whereas hip circumference was inversely related to SBP (but not DBP) in both men and women. Stratifying by tertiles of waist and hip circumference, age- and BMI-adjusted SBP and DBP were highest among those with high waist and small hip circumference measures. CONCLUSION: Waist-hip ratio was independently related to blood pressure. Waist-hip ratio could reflect the separate and opposite relations of waist and hip circumferences on blood pressure. Characterizing patterns of fat distribution may have implications in the assessment and control of obesity-related blood pressure elevation.     

Clinical analysis of the relationship between cystatin C and metabolic syndrome in the elderly

ObjectiveStudies have shown that both cystatin C and metabolic syndrome (MetS) are associated with inflammation. We set out to investigate the correlation between serum cystatin C levels and MetS in the elderly.MethodsThis prospective study was conducted in 380 elderly individuals, including 135 patients with MetS, 142 patients with metabolic disturbance (MetD), and 103 healthy elderly individuals (control group). Waist–hip ratio, waist circumference, waist–height ratio, body mass index (BMI), fasting plasma glucose (FPG), hemoglobin A1c (HbA1c), low-density lipoprotein cholesterol (LDL-C), triglycerides (TG), high-density lipoprotein (HDL-C), systolic blood pressure (SBP), diastolic blood pressure (DBP), pulse pressure and cystatin C were measured and their mutual relations were analyzed.ResultsThe higher the MetS scores, the higher the serum cystatin C concentration in these patients. Serum cystatin C concentration was closely related to waist–hip ratio, waist circumference, waist–height ratio, BMI, TG, FPG, and blood pressure, not related to LDL-C levels, and negatively correlated with HDL-C levels. Logistic regression analysis indicated that cystatin C, waist–height ratio, waist circumference, FPG, TG, SBP and pulse pressure were significantly associated with MetS (OR between cystatin C and MetS 2.164, 95% CI 1.136–8.259).ConclusionCystatin C was significantly associated with MetS in the elderly. As MetS scores rose, serum cystatin C levels increased.     

ALDH2 rs671基因多态性与非酒精性脂肪性肝病相关性研究*

目的 研究乙醛脱氢酶2（ALDH2）基因rs671多态性与非酒精性脂肪性肝病（NAFLD）发病的相关性。方法 在120例研究对象,行肝脏硬度和受控衰减参数（CAP）及血ALDH2 rs671多态性检测,采用非条件Logistic回归控制混杂因素,计算比值比（OR）及其95%可信区间（CI）,判断基因多态性与NAFLD患病的相对风险度。结果 根据CAP检测结果发现脂肪肝73例,无脂肪肝人群47例;脂肪肝组和无脂肪肝组ALDH2 rs671基因GA/AA型比例分别为52.1%和34.0%（P<0.05）;女性和超重人群中脂肪肝组GA/AA型比例分别为48.8%和53.3%,显著高于无脂肪肝组的22.2%和23.1%（P<0.05）;GA/AA型者脂肪肝患病风险升高3.756倍,其体质量、臀围、腰高比超标比例显著高于GG型者（P<0.05）,血清GGT水平为（55.57±99.97） U/L,显著高于GG型者[（38.17±48.02）U/L,P<0.05]。结论 ALDH2 rs671突变可增加NAFLD的患病风险,其发病机制和防治措施还需要进一步研究。     

Interaction between ALDH2 rs671 and life habits affects the risk of hypertension in Koreans: A STROBE observational study

Aldehyde dehydrogenase-2 (ALDH2) is associated with the risk of hypertension, and the effects of lifestyle factors on blood pressure vary according to genotype. Among the Han Chinese, the risk of hypertension is lower in the group with the rs671 A allele than in the group with the G allele, and there is a significant association between the frequency of fried food consumption and hypertension. However, the A allele significantly increases the risk of hypertension with increased fried food intake. This study aimed to investigate the effect of the relationship between ALDH2 polymorphism and complex lifestyle habits (fried food consumption and exercise) on hypertension.rs671 polymorphisms of ALDH2 were examined using Korean genome and epidemiology data from 8157 hypertensive cases and 9550 controls. Further, we investigated whether the A allele is protective against hypertension in Koreans and explored the effect of the combination of fried food intake and exercise habits on hypertension by genotype.The genotype frequencies of rs671, which is specific to East Asia, were 2.51% AA, 26.66% GA, and 70.83% GG in the Korean population. The group with inactive aldehyde dehydrogenase-2 had a low odds ratio [OR = 0.75 (95% CI:0.69–0.80), P = 4.35 × 10⁻¹⁴] of hypertension, and low metabolism of acetaldehyde. Subjects carrying the A allele exhibited an increased risk of hypertension with increased fried food intake without exercise [OR = 2.256 (95% CI:1.094–4.654), P = .028].ALDH2 polymorphism and complex lifestyle habits (fried food consumption and exercise) are associated with the risk of hypertension. Further, the A allele is associated with a low risk of hypertension, but it increases the risk of hypertension as fried food intake without exercise increases.