The ALDH2 gene rs671 polymorphism is not associated with essential hypertension

Essential hypertension (EH) is a worldwide problem. Acetaldehyde dehydrogenase 2 (ALDH2) gene has been suggested to be correlated with EH. However, the results are inconsistent. This study aimed to investigate the associations of ALDH2 rs671 polymorphism with EH in a Chinese Han population in Shanghai. Genotype of ALDH2 rs671 was analyzed in 1923 EH patients and 1115 control subjects. We found no association between ALDH2 rs671 and EH risk or EH-related quantitative blood chemistry values. Furthermore, a meta-analysis was performed and the summary results from 11220 patients and 8339 control subjects were consistent with our findings. These results indicated that rs671 of ALDH2 may not associate with the risk of EH.     

ALDH2基因rs671位点与中国人群心血管代谢危险因素的关系

目的探讨乙醛脱氢酶2(ALDH2)基因rs671位点与我国人群心血管代谢危险因素的关系。方法利用2000~2001年开展的中国心血管健康多中心合作研究(InterASIA),纳入北方5个省市共计6404例基线未患冠心病和脑卒中个体。分析rs671位点与11种心血管代谢危险因素(腰臀围、血脂和血压等)的关系。结果rs671 A等位基因频率为0.16。rs671与饮酒行为显著相关,携带A等位基因的个体不倾向于饮酒(P<0.001)。rs671与腰围、臀围、甘油三酯和舒张压显著相关(P<0.05),每增加一个A等位基因,分别减少0.61 cm、0.54 cm、4.39 mg/dl和0.68 mmHg。进一步校正饮酒行为后,rs671与臀围的关联仍然显著(P=0.035),但与舒张压的关联不再显著。在饮酒人群中rs671 A等位基因可降低舒张压1.28 mmHg,而在非饮酒人群中没有作用。结论本研究发现rs671位点与中国人群腰围和舒张压显著相关,其中与舒张压的关联主要是通过饮酒发挥作用的。     

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。     

Association between APE1 rs1760944 and rs1130409 polymorphism with prostate cancer risk: A systematic review and meta-analysis

Background:Recently, some studies have suggested that the association of apurinic/apyrimidinic endonuclease 1 (APE1) gene polymorphism with prostate cancer (PCa) risk, but there are still some controversies. Hence, we elaborated the relationship between APE1 rs1760944 and rs1130409 gene and PCa risk through systematic literature review and meta-analysis.Methods:As of March 2020, EMBASE, PubMed, the Cochrane Library, Science Direct/Elsevier, MEDLINE and CNKI were used for systematic literature retrieval to investigate the correlation between APE1 rs1760944 and rs1130409 gene polymorphism with PCa risk. Meta-analysis was performed using Review Manager and Stata software.Results:Seven studies were distinguished, consists of 1769 cases of PCa patients and 2237 normal controls. Our results illustrated that there are significant correlation between the APE1 rs1760944 gene polymorphism and PCa in all genetic models (P < .05). The combined odds ratios and 95% confidence intervals were as follows: Additive model (ORs 0.62, 95%, CI [0.39, 0.97]); Codominant model (ORs 0.74, 95% CI [0.58, 0.95]); Dominant model (ORs 0.75, 95%, CI [0.59, 0.95]); Recessive model (ORs 0.63, 95% CI [0.41, 0.96]); Allele model (ORs 0.78, 95% CI [0.65, 0.94]). There also have significant associations between APE1 rs1130409 polymorphisms and PCa in all genetic models (P < .05). The combined odds ratios and 95% confidence intervals were as follows: Additive model (ORs 1.37, 95%, CI [1.01, 1.85]); Codominant model (ORs 1.21, 95% CI [1.01, 1.44]); Dominant model (ORs 1.33, 95%, CI [1.02, 1.73]); Recessive model (ORs 1.74, 95% CI [1.06, 2.85]); Allele model (ORs 1.14, 95% CI [1.00, 1.29]).Conclusion:This study suggests that APE1 rs1760944 polymorphisms might be a protective factor of PCa, and APE1 rs1130409 is suggested to be a risk factor of PCa. APE1 rs1760944 and rs1130409 polymorphisms may be used in the risk assessment of PCa.     

Interaction according to urinary sodium excretion level on the association between ATP2B1 rs17249754 and incident hypertension: the Korean genome epidemiology study

Objective: We examined an interaction according to the estimated 24-h urinary sodium excretion on the association between ATP2B1 rs17249754 and incident hypertension. Methods: We assessed the incidence of hypertension in 1780 participants aged 45 to 75 years without cardiovascular diseases. DNA genotyping was performed using the Affymetrix Single Nucleotide Polymorphism (SNP) array 5.0. Because of previously reported associations with hypertension in various populations including Koreans, ATP2B1 rs17249754 was determined. Sodium intake was assessed by estimating the 24-h urinary sodium excretion with a Kawasaki formula from a spot urine sample. We utilized Cox proportional hazard models to test an interaction according to urinary sodium excretion on the association between ATP2B1 rs17249754 and incident hypertension. Results: The incident hypertension was increased as sodium excretion level was increased. We confirmed that the ATP2B1 rs17249754 polymorphism had significant association with hypertension. We found that the association was modified by urinary sodium excretion level (p-value = 0.006); the mutant type (AA allele, previously recognized as a protective allele) with <4 g/day urinary sodium excretion had an inverse association on hypertension compared with the wild types (GG+GA) (HR = 0.39, 95% confidence interval (CI) 0.17–0.90), whereas the mutant type with ≥6 g/day urinary sodium demonstrated a significantly increased risk of hypertension (HR = 1.89, 95% CI 1.05–3.43). Conclusions: In this 6-year longitudinal study, our findings suggest that excessive sodium intake estimated from urinary sodium excretion significantly modified the risk of developing hypertension associated with ATP2B1 rs17249754 genetic trait. That is, carriers with ATP2B1 rs17249754 homozygote mutant allele may be at higher risk of hypertension, when they consume excessive sodium intake.     

Pharmacological recruitment of aldehyde dehydrogenase 3A1 (ALDH3A1) to assist ALDH2 in acetaldehyde and ethanol metabolism in vivo

Correcting a genetic mutation that leads to a loss of function has been a challenge. One such mutation is in aldehyde dehydrogenase 2 (ALDH2), denoted ALDH2*2. This mutation is present in ∼0.6 billion East Asians and results in accumulation of toxic acetaldehyde after consumption of ethanol. To temporarily increase metabolism of acetaldehyde in vivo, we describe an approach in which a pharmacologic agent recruited another ALDH to metabolize acetaldehyde. We focused on ALDH3A1, which is enriched in the upper aerodigestive track, and identified Alda-89 as a small molecule that enables ALDH3A1 to metabolize acetaldehyde. When given together with the ALDH2-specific activator, Alda-1, Alda-89 reduced acetaldehyde-induced behavioral impairment by causing a rapid reduction in blood ethanol and acetaldehyde levels after acute ethanol intoxication in both wild-type and ALDH2-deficient, ALDH2*1/*2, heterozygotic knock-in mice. The use of a pharmacologic agent to recruit an enzyme to metabolize a substrate that it usually does not metabolize may represent a novel means to temporarily increase elimination of toxic agents in vivo.The aldehyde dehydrogenase (ALDH) superfamily comprises 19 enzymes that catalyze the oxidation and detoxification of a wide spectrum of short and long aliphatic and aromatic aldehydes (1, 2). Acetaldehyde is a product of ethanol metabolism, which is consumed by >80% of humans. In addition to the behavioral impairment risk, the ethanol metabolite, acetaldehyde, is a proven group 1 carcinogen (3). Above and beyond the health risk in the general population, ∼40% of East Asians [∼560 million or ∼8% of the world’s population (4, 5)] carry a point mutation in the ALDH2 gene that leads to a severe enzyme deficiency and accumulation of toxic acetaldehyde (6). After consuming two units of alcoholic beverage, blood acetaldehyde levels reach 60 μM and remain elevated for several hours in heterozygotic carriers of this mutation, whereas within 30 min, acetaldehyde levels are not detected in carriers of the wild-type enzyme (7). The inactivating glutamate 487 to lysine mutation (E487K) (8), denoted ALDH2*2 (vs. ALDH2*1 for the wild-type allele) (9), is dominant; heterozygotic ALDH2*1/*2 individuals have only 17–30% of wild-type activity (10, 11). ALDH2 deficiency is associated with severe facial flushing, longer behavioral impairment (intoxication), longer-lasting headache, nausea, and palpitations from moderate ethanol consumption compared with individuals with normal ALDH2*1/*1 (4).Despite the unpleasant reaction to acetaldehyde accumulation, 17–27% of individuals with ALDH2*1/*2 (heterozygotes) are heavy drinkers (4, 12, 13). These heterozygotic heavy drinkers (consuming >18 alcoholic drinks/week) have greater than 80-fold increased risk for squamous cell carcinomas in the upper aerodigestive track (UADT; i.e., oral cavity and pharynx, larynx, and esophagus) compared with a ∼fourfold increase in wild-type ALDH2*1/*1 heavy drinkers (4, 13–16). Further, an elevated risk of hepatocarcinoma and its recurrence occurs among hepatitis C-infected patients with the ALDH2*2 mutation (17). Acetaldehyde levels are particularly high in the saliva after ethanol ingestion (18), leading to a significant increase in acetaldehyde-DNA adduct levels in ALDH2*1/*2 heterozygotes, even after moderate ethanol consumption (19). Because acetaldehyde is a carcinogen, and the duration and extent of exposure influences its toxicity, increasing the rate of acetaldehyde elimination, especially in ALDH2*1/*2 heterozygotes, may reduce important health risks. We therefore set out to identify a pharmacologic tool to “recruit” another member of the ALDH family to enhance the elimination of acetaldehyde. We focused on ALDH3A1 because it is highly expressed in the epithelial cell layer of the UADT, stomach, liver, and kidney (20–22). ALDH3A1 metabolizes aromatic, aliphatic medium chain aldehydes and α,β-hydroxyalkenal aldehydes, but not acetaldehyde under basal condition (21, 23). The challenge therefore was to find a pharmacologic means to enable ALDH3A1 to assist in the elimination of acetaldehyde.Our laboratory has identified a group of small molecules, Aldas (aldehyde dehydrogenase activators), that increase the catalytic activity of ALDH2 (24). One of these molecules, Alda-1, interacts with the substrate-binding site of ALDH2 and accelerates acetaldehyde metabolism to carboxylic acid by about twofold (24, 25), probably by increasing productive interactions of the substrate with the catalytic Cys302 and reducing the K_m for the NAD⁺ coenzyme (25). We reasoned that another small molecule may increase productive interaction of acetaldehyde with Cys243 in the catalytic site of ALDH3A1, and thus temporarily recruit this enzyme to assist the mutant ALDH2 in eliminating acetaldehyde.     

Prevalence and risk factors of hypertension: A nationwide cross‐sectional study in Lebanon

There is limited epidemiologic data on hypertension (HTN) in Lebanon. This study aimed to determine the prevalence and associated risk factors of HTN in the adult Lebanese population and evaluate the association between dietary and psychological factors on systolic blood pressure (SBP). Cross‐sectional analyses were conducted using a multistage cluster sample across Lebanon. A total of 2014 participants were included. The prevalence and control rates of HTN were 31.2% and 28.7%, respectively. In women, educational level and physical activity were negatively associated with HTN (P < .05 for both) and adherence to the Lebanese Mediterranean diet was associated with a lower SBP. Other factors were associated with HTN in men. There was no relationship with SBP and psychological distress. Of the modifiable risk factors, body mass index persisted as the only contributory factor in both sexes (P < .01). Accordingly, prevention of HTN at the population level should focus mainly on overweight prevention.     

Assessment of a Difference in ALDH2 Heterozygotes and Alcoholic Liver Injury

We have speculated that the degree of liver dysfunction in alcoholic liver disease with ALDH2*1/2*2 may be less pronounced than that with ALDH2*1/2*1 . In the present study, outpatients with alcoholic liver injury were examined for ALDH2 genotype and biochemical data. The number of patients was 29 cases of nonspecific changes, 16 cases of fatty liver, 5 cases of liver fibrosis, and 44 cases of liver cirrhosis. Biochemical data were evaluated with ALDH2 heterozygotes data obtained by PCR-SSCP. The ALDH2*1/2*1 and ALDH2*1/2*2 genotypes accounted for 90% and 10%, respectively. As for ALDH2*1/2*2 , there were three patients with nonspecific changes, three with fatty liver, one with liver fibrosis, and two with liver cirrhosis. In alcoholic liver disease patients, when the ALDH2*1/2*2 genotype was compared with the ALDH2*1/2*1 genotype with biochemical data, the γ-GTP value in patients with ALDH2*1/2*2 was significantly higher than with ALDH2*1/2*1 ( p < 0.005). When the frequency of ALDH2 genotype was determined in patients with alcoholic liver injury, ALDH2 heterozygotes accounted for 15% for the non-cirrhosis group, and 5% for the cirrhotic group. When a relationship between the amount of ethanol intake and biochemical data were determined in patients with alcoholic liver injury who have ALDH2 heterozygotes, the glutamic oxaloacetic transaminase (GOT) and γ-GTP values were significantly higher at an ethanol intake amount of ethanol more than 100 g per day than intake less than 100 g per day ( p < 0.05). The alcoholic patients with ALDH2*1/2*2 drink a slight amount of ethanol, the liver injury is found to be stronger than those with ALDH2*1/2*1 when they drink more than 100 g ethanol per day.     

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。     

非小细胞肺癌中 ALDH1 和 ABCG2 的表达及其临床意义简

目的 检测ALDH1和ABCG2在人非小细胞肺癌组织中的表达状况,探讨二者的相关性及其与临床病理特征的关系.方法采用免疫组化 ElivisionTM plus法检测60例NSCLC和30例癌旁正常肺组织中ALDH1、ABCG2的表达情况.结果 在癌旁正常肺组织中ALDH1、ABCG2的表达率分别为10%、0%,在NSCLC 组织中分别为63.3%、48.3%,差异有显著（P＜0.05）;其阳性表达与肿瘤细胞分化程度、临床分期、淋巴结转移（P均＜ 0.05）; ALDH1的表达与ABCG2的表达无明显相关（P＞0.05）.结论 ALDH1、ABCG2的表达在NSCLC的发生、发展中起重要作用,可以作为预后判断的指标.     

The association between rs1800872 polymorphism in interleukin-10 and risk of cervical cancer: A meta-analysis

Background:In recent years, several reports have tried to prove this connection between rs1800872 polymorphism in interleukin-10 and cervical cancer among different populations, but the results are debatable. Thus, we collected all the published literature and conducted an integrated meta-analysis, which provided better evidence-based medicine for the relationship between rs1800872 polymorphism in interleukin-10 and risk of cervical cancer.Methods:We systematically performed our search on PubMed, EMBASE, Web of Science, WanFang database, and CNKI for all papers related to this research, published up to August 1, 2020. Summary odds ratios (OR) with 95% confidence interval (95% CI) were calculated in allelic, homozygous, heterozygous, dominant, and recessive model to appraise the association.Results:The meta-analysis included 8 studies containing 1393 cervical cancer cases and 1307 controls. The aggregate data under heterozygous model and dominant inheritance model (OR = 0.66, 95% CI: 0.55--0.80) indicated a significant association between rs1800872 and the low risk of cervical cancer in the entire population. And the aggregated data under the dominant inheritance model shows that rs1800872 is significantly associated with the reduction in the risk of cervical tumors in the entire population.Conclusion:Our conclusion is that the AC/AA + AC variant of Rs1800872 indicates a protective effect in the development of cervical cancer.     

ALDH2基因多态性与稳定型心绞痛患者硝酸甘油有效性关联的实验研究

目的选取临床存在稳定型心绞痛发作史的冠心病患者,观察其乙醛脱氢酶2(ALDH2)基因多态性与稳定型心绞痛发作时单独舌下含服硝酸甘油有效与否的关联。方法纳入临床经冠脉造影确诊为冠心病(主要冠脉狭窄≥50%)并有稳定型心绞痛发作史及稳定型心绞痛发作时单独舌下含服过硝酸甘油的患者共113人,分为有效组(A组)87人、无效组(B组)26人,有效组进一步分为迅速起效组(A1组)69人及缓慢起效组(A2组)18人。由多聚酶链式反应PCR及反向直接测序方法获得ALDH2基因第12号外显子504位点多态性。结果ALDH2基因在第12号外显子504位点存在G(谷氨酸)/A(赖氨酸)基因多态。具有完全ALDH活性的野生型基因G/G型及完全丧失酶活性的突变型基因A/A型所占比例在有效组(A组)与无效组(B组)之间均无显著性差异(74.713%vs.61.538%,P0.05;6.897%vs.11.538%,P0.05);有效组A组中,基因型G/G型及A/A型所占比例在迅速起效组(A1组)及缓慢起效组(A2组)之间均无显著性差异(73.913%vs.77.778%,P0.05;4.348%vs.16.667%,P0.05);在迅速起效组(A1组)及无效组(B组)之间,基因型G/G型及A/A型所占比例亦均无显著性差异(73.913%vs.61.538%;P0.05;4.348%vs.11.538%,P0.05)。结论ALDH2基因第12号外显子504位点基因多态性与冠心病患者稳定型心绞痛急性发作时单独舌下含服硝酸甘油有效与否无关联。     

Association of the VEGFR2 single nucleotide polymorphism rs2305948 with glioma risk

Background:Many studies have reported a relationship between the vascular endothelial growth factor receptor 2 single nucleotide polymorphism (SNP) rs2305948 and glioma, but their conclusions have been controversial. A meta-analysis was performed to assess the association between rs2305948 and glioma susceptibility.Methods:Inclusion criteria and a strategy for screening of original literature were created. Eligible articles on the correlation between the SNP rs2305948 and glioma were identified in the PubMed, Embase, Web of Science, Cochrane Library, CNKI and Wanfang databases. After extracting the data, Stata 12. 0 software was used to perform statistical analysis under 5 genetic models and to calculate the combined odds ratio (OR) value and its 95% confidence interval (CI).Results:Four case-control studies including 1595 cases and 1657 controls were entered into the study. The overall analysis showed that no obvious association existed between rs2305948 and glioma risk (allele: OR = 1.20, 95% CI = 0.93–1.54, P = .162; dominant: OR = 1.17, 95% CI = 0.93–1.46, P = .174; recessive: OR = 1.72, 95% CI = 0.94–3.15, P = .076; heterozygous: OR = 1.11, 95% CI = 0.94–1.30, P = .226; homozygous: OR = 1.74, 95% CI = 0.92–3.29, P = .088). The subgroup analysis suggested that the SNP rs2305948 was related to glioma susceptibility under allele, dominant, recessive and homozygote models in the Asian population (allele: OR = 1.34, 95% CI = 1.16–1.55, P < .001; recessive: OR = 2.24, 95% CI = 1.49–3.36, P < .001; homozygous: OR = 2.32, 95% CI = 1.54–3.50, P < .001).Conclusion:The vascular endothelial growth factor receptor 2 rs2305948 gene polymorphism may be related to glioma susceptibility in the Asian population. However, the association is not clear in non-Asian populations, for which there has been less research.     

Association between rs735482 polymorphism and risk of cancer: A meta-analysis of 10 case–control studies

Several studies have inspected the relationship between rs735482 polymorphism and the risk of some human cancers, but the findings remain controversial. We designed this meta-analysis to validate the association between rs735482 polymorphism and cancer risk. All articles were published before September 1, 2018 and searched in Pubmed, Embase, Web of Science, China National Knowledge Infrastructure, WangFang, and Chinese BioMedical databases, STATA 12.0 software was used for statistical analysis, which provides reasonable data and technical support for this article. A total of 10 studies were included in the meta-analysis, including 2652 cancer cases and 3536 rs735482 polymorphic controls. Data were directly extracted from these studies and odds ratios with 95% confidence intervals were computed to estimate the strength of the association. By pooling all eligible studies, the rs735482 polymorphism showed no significant association with susceptibility of several cancers in all the five genetic models (the allelic model: OR = 1.019, 95% CI: 0.916–1.134, P = .731). In addition, another adjusted OR data showed a significant increased risk between the rs735482 and susceptibility of several cancers (the codominant model BB vs AA: OR = 1.353, 95% CI: 1.033–1.774, P = .028) and the stratification analysis by ethnicity indicated the rs735482 is associated with an increased risk of cancer in Chinese group (BB vs AA, OR = 1.391, 95% CI = 1.054–1.837, P = .020; AB+BB vs AA OR = 1.253, 95% CI = 1.011–1.551, P = .039). However, the ERCC1 rs735482 is associated with a decreased risk of cancer in Italian group (AB vs AA, OR = 0.600, 95% CI = 0.402–0.859, P = .012; AB + BB vs AA, OR = 0.620, 95% CI = 0.424–0.908, P = .014). The results of this meta-analysis do not support the association between rs735482 polymorphism and cancer risk. But stratified analysis showed that rs735482 significantly increased the risk of cancer in Chinese while decreased the risk of cancer in Italian. Because of the limited number of samples, larger and well-designed researches are needed to estimate this association in detail.     

Cardiovascular risk and the COVID-19 pandemic: A retrospective observational study in a population of healthcare professionals

Background and aimTo contain the spread of COVID-19, many countries imposed several restrictive measures, leading to radical changes in daily life behaviors. Healthcare workers experienced additional stress due to the increased risk of contagion, possibly causing an increase in unhealthy habits. We investigated changes in cardiovascular (CV) risk assessed by the SCORE-2 in a healthy population of healthcare workers during the COVID-19 pandemic; an analysis by subgroups was also conducted (sportspeople vs sedentary subjects).Methods and resultsWe compared medical examination and blood tests in a population of 264 workers aged over 40, performed yearly before (T0) and during the pandemic (T1, T2). We found a significant increase in the average CV risk, according to SCORE-2, during the follow-up in our healthy population, with a shift from a mean low-moderate risk profile at T0 (2.35%) to a mean high-risk profile at T2 (2.80%). Furthermore, in sedentary subjects was observed a greater and early increase in SCORE-2 compared to sportspeople.ConclusionsSince 2019, we observed an increase in CV risk profile in a healthy population of healthcare workers, particularly in sedentary subjects, highlighting the need to reassess SCORE-2 every year to promptly treat high-risk subjects, according to the latest Guidelines.     

Smoking habits and the risk of type 2 diabetes: A case-control study

AimThe objective of the study was to assess the relationship between smoking and the risk of type 2 diabetes.Subject and methodsThis case-control study included 234 cases with newly confirmed diagnoses of type 2 diabetes and 468 controls who were free of the disease in 2001. Cases and controls were matched by gender and age (±5 years). A questionnaire was used to collect information on the possible risk factors of type 2 diabetes. Clinical measurements were taken in accordance with the recommendations of the WHO. Fasting plasma glucose and triglycerides were also measured, and the glucose tolerance test was performed in the controls. The odds ratios (OR) and 95% confidence intervals (CI) for type 2 diabetes were calculated using conditional logistic regression.ResultsThe diabetes cases had significantly less education, more first-degree relatives with a positive family history of diabetes and higher body mass index (BMI) scores compared with the controls. Also, after adjusting for possible confounders, an increased risk of type 2 diabetes was determined for current smokers (OR = 2.41; 95% CI 1.07–5.44) vs. non-smokers. In addition, there was an association between the disease and duration of smoking (OR = 2.47; 95% CI 1.03–5.93 for 40 years or more) vs. non-smokers, and those who had been smokers for 10 or more pack-years had twice the risk of diabetes (OR = 2.17; 95% CI 1.07–4.40) vs. non-smokers. There were no significant associations found between the risk of type 2 diabetes and number of cigarettes smoked per day or stopping smoking.ConclusionOur data confirms that smoking may be an independent risk factor for type 2 diabetes.     

ATP2B1 gene polymorphisms rs2681472 and rs17249754 are associated with susceptibility to hypertension and blood pressure levels: A systematic review and meta-analysis

Objective:The present study aimed to conduct a systematic review and meta-analysis to evaluate the relationships between ATP2B1 gene polymorphisms with blood pressure (BP) level and susceptibility to hypertension.Methods:PubMed, Web of Science, Embase and China National Knowledge Infrastructure (CNKI) Databases were systematically searched by 2 independent researchers to screen studies on ATP2B1 gene polymorphisms and BP related phenotypes. The records retrieval period was limited from the formation of the database to March 4, 2021. Pooled odds rations (ORs) or β and their 95% confidence intervals (95%CI) were calculated to assess the association between ATP2B1 gene polymorphisms and the risk of hypertension or BP levels. Publication bias and sensitivity analysis were conducted to find potential bias. All the statistical analysis were conducted with Stata version 11.0 software.Results:A total of 15 articles were ultimately included in the present study, including 15 polymorphisms of ATP2B1 gene. Nine articles (N = 65,362) reported the polymorphism rs17249754, and 7 articles(N = 91,997) reported rs2681472 (both loci were reported in 1 article). Meta-analysis showed that rs17249754 (G/A) and rs2681472 (A/G) were associated with the susceptibility to hypertension (rs17249754: OR = 1.19, 95%CI: 1.10–1.28; rs2681472: OR = 1.15, 95%CI: 1.12–1.17), and were positively associated with systolic BP (SBP) and diastolic blood pressure (DBP) (rs17249754: SBP, β=1.01, 95%CI: 0.86–1.16, DBP, β=0.48, 95%CI: 0.30–0.66; rs2681472: SBP, β=0.92, 95%CI: 0.77–1.07, DBP, β=0.50, 95%CI: 0.42–0.58) in the additive genetic model. Subgroup analysis stratified by race, population, sample size, and BP measurement method revealed that the association between A allele in rs2681472 polymorphism and risk of hypertension was slightly stronger in European (EUR) populations (OR = 1.16, 95%CI: 1.13–1.20) than in East Asians (OR = 1.14, 95%CI: 1.10–1.17). While in East Asians, relation between rs17249754 with risk of hypertension (OR = 1.19, 95%CI: 1.10–1.28) is stronger than rs2681472 (OR = 1.14, 95%CI: 1.10–1.17).Conclusions:Our study demonstrated that ATP2B1 gene polymorphism rs2681472 and rs17249754 were associated with BP levels and the susceptibility to hypertension.