Gastroesophageal reflux disease

胃食管反流病
  • 文章类型: Journal Article
    背景:先前的观察性研究表明,胃食管反流病(GERD)和Barrett食管(BE)的患病率与社会经济状况有关。然而,由于传统观察性研究的方法局限性,确定因果关系是具有挑战性的。
    目的:使用孟德尔随机化(MR)探索这些疾病的患病率与社会经济状况之间的因果关系。
    方法:我们最初筛选了单核苷酸多态性(SNPs),作为8种社会经济状态表型的代表进行单变量MR分析。使用逆方差加权(IVW)方法作为主要分析方法来估计八种社会经济地位表型与GERD和BE风险之间的因果关系。然后,我们收集SNP的组合作为8种社会经济表型的复合代理,以基于IVWMVMR模型进行多变量MR(MVMR)分析。此外,使用两步MR调解分析来检查体重指数对关联的潜在调解,抑郁症(MDD),吸烟,酒精消费,和睡眠时间。
    结果:该研究确定了三种对GERD有显著影响的社会经济状况。其中包括家庭收入[优势比(OR):0.46;95%置信区间(95CI):0.31-0.70],教育程度(OR:0.23;95CI:0.18-0.29),以及招募时的汤森德剥夺指数(OR:1.57;95CI:1.04-2.37)。发现这些因素独立且主要影响GERD的遗传因果效应。此外,发现受教育程度对GERD的中介作用是由MDD介导的(介导比例:10.83%)。同样,受教育程度对BE的影响由MDD(介导比例:10.58%)和每日吸烟数量(介导比例:3.50%)介导.此外,观察到家庭收入对GERD的中介作用是由睡眠持续时间介导的(介导比例:9.75%)。
    结论:这项MR研究揭示了社会经济地位与GERD或BE之间的联系,为食管癌和癌前病变的预防提供见解。
    BACKGROUND: Previous observational studies have shown that the prevalence of gastroesophageal reflux disease (GERD) and Barrett\'s esophagus (BE) is associated with socioeconomic status. However, due to the methodological limitations of traditional observational studies, it is challenging to definitively establish causality.
    OBJECTIVE: To explore the causal relationship between the prevalence of these conditions and socioeconomic status using Mendelian randomization (MR).
    METHODS: We initially screened single nucleotide polymorphisms (SNPs) to serve as proxies for eight socioeconomic status phenotypes for univariate MR analysis. The inverse variance weighted (IVW) method was used as the primary analytical method to estimate the causal relationship between the eight socioeconomic status phenotypes and the risk of GERD and BE. We then collected combinations of SNPs as composite proxies for the eight socioeconomic phenotypes to perform multivariate MR (MVMR) analyses based on the IVW MVMR model. Furthermore, a two-step MR mediation analysis was used to examine the potential mediation of the associations by body mass index, major depressive disorder (MDD), smoking, alcohol consumption, and sleep duration.
    RESULTS: The study identified three socioeconomic statuses that had a significant impact on GERD. These included household income [odds ratio (OR): 0.46; 95% confidence interval (95%CI): 0.31-0.70], education attainment (OR: 0.23; 95%CI: 0.18-0.29), and the Townsend Deprivation Index at recruitment (OR: 1.57; 95%CI: 1.04-2.37). These factors were found to independently and predominantly influence the genetic causal effect of GERD. Furthermore, the mediating effect of educational attainment on GERD was found to be mediated by MDD (proportion mediated: 10.83%). Similarly, the effect of educational attainment on BE was mediated by MDD (proportion mediated: 10.58%) and the number of cigarettes smoked per day (proportion mediated: 3.50%). Additionally, the mediating effect of household income on GERD was observed to be mediated by sleep duration (proportion mediated: 9.75%).
    CONCLUSIONS: This MR study shed light on the link between socioeconomic status and GERD or BE, providing insights for the prevention of esophageal cancer and precancerous lesions.
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  • 文章类型: Journal Article
    左心房(LA)中低压区(LVZs)的存在与肺静脉隔离后心房颤动(AF)的复发有关。许多研究认为胃食管反流病(GERD)与房颤之间存在联系,将这种关系归因于食道与LA后下壁的解剖学接近度。
    这项研究的目的是调查GERD是否可以预测LA后下壁中LVZ的存在。
    5151名持续性房颤患者,计划进行他们的第一次房颤消融手术,被前瞻性登记。使用多极导管收集电压图,和LVZ定义为测量≥3cm2的面积,峰-峰双极电压<0.5mV。关于GERD症状的信息是通过自我管理的问卷从参与者那里收集的。
    长期持续性房颤占总队列的22.3%。29%的患者存在GERD,后下壁的LVZ占12.7%。在多变量分析中,与无GERD患者相比,GERD患者在LA后下壁出现LVZ的几率(比值比2.26;95%置信区间1.24~4.13;P=.008)超过2倍.GERD与LA其他区域的LVZs无关。
    在后下LA中发现GERD与LVZ独立相关。这种关联可能归因于炎症,并可能部分解释GERD和AF之间的联系。
    UNASSIGNED: The presence of low voltage zones (LVZs) in the left atrium (LA) is associated with the recurrence of atrial fibrillation (AF) after pulmonary vein isolation. Numerous studies have posited a link between gastroesophageal reflux disease (GERD) and AF, attributing this relationship to the anatomical proximity of the esophagus to the posteroinferior wall of the LA.
    UNASSIGNED: The objective of this study was to investigate whether GERD can predict the presence of LVZs in the posteroinferior wall of the LA.
    UNASSIGNED: Five hundred fifty-one patients with persistent AF, scheduled for their first AF ablation procedure, were prospectively enrolled. Voltage maps were collected using a multipolar catheter, and LVZs were defined as areas measuring ≥3 cm2 with a peak-to-peak bipolar voltage of <0.5 mV. Information on GERD symptoms was collected from the participants through a self-administered questionnaire.
    UNASSIGNED: Long-standing persistent AF was present in 22.3% of the total cohort. GERD was present in 29% of patients and LVZs in the posteroinferior wall in 12.7%. In the multivariable analysis, patients with GERD were found to have more than twice the odds (odds ratio 2.26; 95% confidence interval 1.24-4.13; P = .008) of exhibiting LVZs in the posteroinferior wall of the LA than patients without GERD. GERD was not associated with LVZs in any other region of the LA.
    UNASSIGNED: GERD was found to be independently associated with LVZs in the posteroinferior LA. This association may be attributable to inflammation and may partly explain the link between GERD and AF.
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  • 文章类型: Journal Article
    目的:探讨胃食管瓣(GEFV)内镜分级(Hill’s分型)在胃食管反流病(GERD)患者检查中的意义。
    方法:在消化内科接受胃镜检查的一百六十二例患者,兴义市人民医院4月之间。2022年9月2022年是通过方便的抽样选择的,和GEFV等级等数据,以及食管高分辨率测压(HRM)和食管24小时pH/阻抗反流监测的结果,收集并比较洛杉矶(LA)的反流性食管炎(RE)分类。
    结果:不同GEFV分级患者在年龄(F=9.711,P<0.001)和食管裂孔疝(χ=35.729,P<0.001)方面差异有统计学意义。静息LES压力分别为12.12±2.79、10.73±2.68、9.70±2.29和8.20±2.77mmHg(F=4.571,P<0.001),LES长度分别为3.30±0.70、3.16±0.68、2.35±0.83和2.45±0.62(F=3.789,P=0.011),分别,GEFVI-IV级患者。DeMeester评分(Z=5.452,P<0.001),AET4(Z=5.614,P<0.001),酸反流评分(直立)(Z=7.452,P<0.001),弱酸反流评分(直立)(Z=3.121,P=0.038),液体回流评分(直立)(Z=3.321,P=0.031),胃酸反流评分(仰卧位)(Z=6.462,P<0.001),混合反流评分(仰卧)(Z=3.324,P=0.031),气体回流评分(仰卧位)(Z=3.521,P=0.024)在不同GEFV分级患者中,具有统计学上的显著差异。Pearson相关分析显示RE分级与GERDLA分级呈正相关(r=0.662,P<0.001)。RE的严重程度随着GEFVHill等级的增加而逐渐增加。
    结论:GEFV的希尔等级与年龄有关,食管裂孔疝,LES压力,以及随之而来的酸反流和RE的发展和严重程度。根据GEFV的Hill分级评估食管运动和反流对GERD的诊断和治疗具有重要意义。
    OBJECTIVE: To investigate the significance of endoscopic grading (Hill\'s classification) of gastroesophageal flap valve (GEFV) in the examination of patients with gastroesophageal reflux disease (GERD).
    METHODS: One hundred and sixty-two patients undergoing gastroscopy in the Department of Gastroenterology, Xingyi People\'s Hospital between Apr. 2022 and Sept. 2022 were selected by convenient sampling, and data such as GEFV grade, and findings of esophageal high-resolution manometry (HRM) and esophageal 24-h pH/impedance reflux monitoring, and Los Angeles (LA) classification of reflux esophagitis (RE) were collected and compared.
    RESULTS: Statistically significant differences in age (F = 9.711, P < 0.001) and hiatal hernia (χ = 35.729, P < 0.001) were observed in patients with different GEFV grades. The resting LES pressures were 12.12 ± 2.79, 10.73 ± 2.68, 9.70 ± 2.29, and 8.20 ± 2.77 mmHg (F = 4.571, P < 0.001) and LES lengths were 3.30 ± 0.70, 3.16 ± 0.68, 2.35 ± 0.83, and 2.45 ± 0.62 (F = 3.789, P = 0.011), respectively, in patients with GEFV grades I-IV. DeMeester score (Z = 5.452, P < 0.001), AET4 (Z = 5.614, P < 0.001), acid reflux score (upright) (Z = 7.452, P < 0.001), weak acid reflux score (upright) (Z = 3.121, P = 0.038), liquid reflux score (upright) (Z = 3.321, P = 0.031), acid reflux score (supine) (Z = 6.462, P < 0.001), mixed reflux score (supine) (Z = 3.324, P = 0.031), gas reflux score (supine) (Z = 3.521, P = 0.024) were different in patients with different GEFV grades, with statistically significant differences. Pearson correlation analysis revealed a positive correlation between RE grade and LA classification of GERD (r = 0.662, P < 0.001), and the severity of RE increased gradually with the increase of the Hill grades of GEFV.
    CONCLUSIONS: The Hill grade of GEFV is related to age, hiatal hernia, LES pressure, and the consequent development and severity of acid reflux and RE. Evaluation of esophageal motility and reflux based on the Hill grade of GEFV is of significance for the diagnosis and treatment of GERD.
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  • 文章类型: Journal Article
    背景:SG向Roux-en-Y胃旁路术(RYGB)的转换正在增加。套管的胸内迁移(ITM)似乎经常相关,并且越来越多地被报道。
    方法:纳入2013年8月至2022年12月接受SG转换为RYGB的患者。比较了两组:因体重减轻失败(WLFgp)而手术的患者和因胃食管反流病(GERDgp)而手术的患者。人口统计数据,ITM的发病率,体重减轻的结果,症状的解决,并对发病率进行了分析。
    结果:纳入59例患者,平均随访32个月:GERDgp中的46例患者(78%)与WLFgp中的13例患者(22%)进行比较。各组在年龄和性别方面具有可比性,但BMI和商品在WLFgp中明显较高。在GERDgp中,术前胃镜检查,30%有食管炎,48%的ITM需要后脚闭合,而没有食管炎(p=0.02),WLFgp中的ITM为23%(p=0.11)。转化导致93%的GERD症状改善。在WLFgp中,平均TWL%为15.3%,显著高于GERDgp(TWL%=4.6%,p=0.01)。30天并发症发生率为10%,30天后为3.4%,组间没有显著差异。
    结论:SG转换为RYGB的主要适应症是由于GERD:在这些适应症中,ITM的发生率很高,需要手术治疗,对症状有很好的疗效.减肥结果令人失望。
    BACKGROUND: Conversion of SG to Roux-en-Y gastric bypass (RYGB) is increasing. Intrathoracic migration of the sleeve (ITM) often seems associated and is increasingly reported.
    METHODS: Patients who underwent a conversion of SG to RYGB from August 2013 to December 2022 were included. Two groups were compared: patients operated on for weight loss failure (WLF gp) and those operated on for gastroesophageal reflux disease (GERD gp). Demographic data, the incidence of ITM, weight loss outcomes, resolution of symptoms, and morbidity were analyzed.
    RESULTS: Fifty-nine patients were included with an average follow-up of 32 months: 46 patients in the GERD gp (78%) were compared to 13 patients (22%) in the WLF gp. Groups were comparable regarding age and gender, but BMI and commodities were significantly higher in the WLF gp. In the GERD gp, on preoperative gastroscopy, 30% had a esophagitis, 48% had an ITM which required a posterior crural closure versus no esophagitis (p=0.02) and 23% of ITM in the WLF gp (p=0.11). Conversion led to 93% of GERD symptom improvement. In the WLF gp, mean TWL% was 15.3%, significantly greater than in the GERD gp (TWL% = 4.6%, p = 0.01). The complication rate was 10% at 30 days and 3.4% after 30 days, not significantly different between groups.
    CONCLUSIONS: The main indication of conversion of SG to RYGB was because of GERD: in these indications, the incidence of ITM was high requiring a surgical treatment with a very good efficacy on symptoms. Weight loss results were disappointing.
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  • 文章类型: Journal Article
    背景:患有器质性胃肠(GI)疾病和糖尿病(DM)的患者可能伴有肠-脑相互作用(DGBI)的疾病。
    目的:本研究旨在比较有或没有自我报告的器质性胃肠道疾病或DM的成人中DGBI相容症状的全球患病率。
    方法:数据来自26个国家的基于人群的互联网调查,罗马基金会全球流行病学研究(n=54,127)。人们被问及他们是否被医生诊断出患有胃食管反流病,消化性溃疡,乳糜泻,炎症性肠病(IBD),憩室炎,GI癌或DM。未报告感兴趣的有机诊断的个体包括在参照组中。与DGBI兼容的症状概况基于罗马IV诊断问题。使用混合逻辑回归模型计算赔率(OR[95%置信区间])。
    结果:患有所研究的器质性GI疾病之一与任何DGBI兼容的症状谱有关,范围从GI癌症的OR1.64[1.33,2.02]到IBD的OR3.22[2.80,3.69]。这些协会比DM强,或1.26[1.18,1.35]。在相应的有机胃肠道疾病和DGBI相容的症状谱之间有很强的联系(例如,IBD和肠道DGBI)和非对应(例如,IBD和食管DGBI)解剖区域。大便失禁和乳糜泻之间的联系最强,或6.94[4.95,9.73]。在调整混杂因素后,协会减少,但坚持。
    结论:与DGBI相容的症状谱在患有自我报告的器质性GI疾病和DM的个体中更常见。在有机(GI)疾病的管理中应考虑这些伴随的DGBIs的存在。
    BACKGROUND: Patients with organic gastrointestinal (GI) diseases and diabetes mellitus (DM) can have concomitant disorders of gut-brain interaction (DGBI).
    OBJECTIVE: This study aimed to compare the global prevalence of DGBI-compatible symptom profiles in adults with and without self-reported organic GI diseases or DM.
    METHODS: Data were collected in a population-based internet survey in 26 countries, the Rome Foundation Global Epidemiology Study (n = 54,127). Individuals were asked if they had been diagnosed by a doctor with gastroesophageal reflux disease, peptic ulcer, coeliac disease, inflammatory bowel disease (IBD), diverticulitis, GI cancer or DM. Individuals not reporting the organic diagnosis of interest were included in the reference group. DGBI-compatible symptom profiles were based on Rome IV diagnostic questions. Odds ratios (ORs [95% confidence interval]) were calculated using mixed logistic regression models.
    RESULTS: Having one of the investigated organic GI diseases was linked to having any DGBI-compatible symptom profile ranging from OR 1.64 [1.33, 2.02] in GI cancer to OR 3.22 [2.80, 3.69] in IBD. Those associations were stronger than for DM, OR 1.26 [1.18, 1.35]. Strong links between organic GI diseases and DGBI-compatible symptom profiles were seen for corresponding (e.g., IBD and bowel DGBI) and non-corresponding (e.g., IBD and esophageal DGBI) anatomical regions. The strongest link was seen between fecal incontinence and coeliac disease, OR 6.94 [4.95, 9.73]. After adjusting for confounding factors, associations diminished, but persisted.
    CONCLUSIONS: DGBI-compatible symptom profiles are more common in individuals with self-reported organic GI diseases and DM compared to the general population. The presence of these concomitant DGBIs should be considered in the management of organic (GI) diseases.
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  • 文章类型: Journal Article
    袖状胃切除术(SG)是目前世界上最常用的减肥手术。然而,SG后胃食管反流病(GERD)的发生仍存在争议和疑问.
    使用pH监测研究确定SG后GERD的发生。
    这是一项前瞻性研究,涉及在一个外科中心接受SG的患者。纳入标准是减肥手术的资格,没有GERD的症状,正常胃镜检查,和手术前的pH监测。术后6个月进行术后检查。
    本研究共分析了38例患者。平均年龄是44.9岁,术前平均BMI为42.6kg/m2。手术前,所有患者的pH值正常.手术后,平均酸暴露时间(AET),回流次数,和DeMeester评分在统计学上显著增加(p<0.001)。27例(71.1%)患者AET>6%,但只有9例(23.7%)报告了GERD症状和需要PPI。AET与%TWL呈中度正相关,DeMeester评分与%TWL之间的相关性较低(分别为p=0.011,p=0.014)。
    SG后的GERD似乎是一个重大问题。在pH监测中,超过三分之二的患者在SG后出现从头GERD,但其中只有四分之一需要PPI。
    UNASSIGNED: Sleeve gastrectomy (SG) is currently the most frequently performed bariatric procedure in the world. However, the occurrence of gastroesophageal reflux disease (GERD) after SG remains controversial and questionable.
    UNASSIGNED: To determine the occurrence of GERD after SG using a pH-monitoring study.
    UNASSIGNED: This is a prospective study involving patients undergoing SG in one surgical centre. Inclusion criteria were eligibility for bariatric surgery, no symptoms of GERD, normal gastroscopy, and pH-monitoring before the surgery. Postoperative examinations were performed 6 months after surgery.
    UNASSIGNED: A total of 38 patients were analysed in the study. The mean age was 44.9 years, and the mean preoperative BMI was 42.6 kg/m2. Before surgery, all patients had normal pH values. After surgery, mean acid exposure time (AET), number of refluxes, and DeMeester score increased statistically significantly (p < 0.001). 27 (71.1%) patients each had AET > 6%, but only 9 (23.7%) reported GERD symptoms and the need for PPIs. The correlation between AET and %TWL was moderate positive, and the correlation between DeMeester score and %TWL was low positive (p = 0.011, p = 0.014, respectively).
    UNASSIGNED: GERD after SG seems to be a significant problem. More than two-thirds of patients had de novo GERD after SG in pH-monitoring, but only one-quarter of them required PPIs.
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  • 文章类型: Journal Article
    胃食管反流病(GERD)是慢性阻塞性肺疾病(COPD)最常见的合并症之一。食管上、下括约肌压力降低,食管运动障碍,高跨膈压力,唾液分泌减少被认为是导致COPD中GERD发展的机制。临床上,据报道,COPD并发GERD与更严重的症状有关,生活质量,和肺功能,以及恶化的高风险。反流抽吸和胆碱能介导的食管支气管反射在病理生理学中起着重要作用。吞咽反射异常和吞咽不协调会加重误吸。GERD的诊断不是基于单一的标准;然而,各种方法,包括问卷和内窥镜评估,可广泛应用于临床。由于COPD患者患食管癌和胃癌的风险增加,内镜检查的门槛应该较低.酸抑制剂,如质子泵抑制剂和组胺H2受体拮抗剂,和促动力剂,包括莫沙必利和伊托必利,临床上用于治疗GERD。内镜胃底折叠术可用于治疗难治性GERD患者。证据不足,但越来越多的研究表明COPD合并GERD患者治疗的临床疗效.由于GERD是一种可评价和治疗的常见疾病,获得评估和治疗相对容易,在COPD的治疗过程中,临床医师应针对GERD提供充分的治疗.
    Gastroesophageal reflux disease (GERD) is one of the most common comorbidities of chronic obstructive pulmonary disease (COPD). Decreased lower and upper esophageal sphincter pressures, esophageal dysmotility, high transdiaphragmatic pressure, and decreased saliva secretion have been implicated as mechanisms leading to the development of GERD in COPD. Clinically, comorbid GERD in COPD is reportedly associated with worse symptoms, quality of life, and lung function, as well as a high risk of exacerbations. Aspiration of regurgitation and the cholinergic-mediated esophagobronchial reflex play a significant role in the pathophysiology. Abnormal swallowing reflexes and discoordination of swallowing can worsen aspiration. The diagnosis of GERD is not based on a single criterion; however, various approaches, including questionnaires and endoscopic evaluations, can be widely applied in clinical settings. Due to the increased risk of esophageal and gastric cancers in patients with COPD, the threshold for endoscopic examination should be low. Acid inhibitory agents, such as proton pump inhibitors and histamine H2 receptor antagonists, and prokinetic agents, including mosapride and itopride, are clinically used to treat GERD. Endoscopic fundoplication can be performed in patients with GERD refractory to medical treatment. There is still insufficient evidence, but an increasing number of studies have suggested the clinical efficacy of treatment in patients with COPD and GERD. As GERD is an evaluative and treatable common disease, and access to evaluation and treatment is relatively easy, clinicians should provide adequate care for GERD in the management of COPD.
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  • 文章类型: Journal Article
    目的:本研究旨在探讨饮食习惯与胃食管反流病(GERD)之间的潜在因果关系。
    方法:使用逆方差加权方法,我们进行了双样本孟德尔随机化(MR)分析,以调查22种饮食习惯与GERD之间的因果关系.采用留一法分析评估结果的稳定性和可靠性,异质性测试,并基于效应测度比值比(OR)和95%置信区间(CI)进行水平多效性检验。
    结果:MR分析结果表明饮酒(OR=1.472;95%CI,1.331至1.629;p<1.0×10-3)与食物中添加的盐(OR=1.270;95%CI,1.117至1.443;p<1.0×10-3)与GERD的风险呈正相关。相反,面包摄入量(OR=0.613;95%CI,0.477至0.790;p<1.0×10-3),谷物摄入量(OR=0.613;95%CI,0.391至0.677;p<1.0×10-3),奶酪摄入量(OR=0.709;95%CI,0.593至0.846;p<1.0×10-3),干果摄入量(OR=0.535;95%CI,0.404至0.709;p<1.0×10-3),新鲜水果摄入量(OR=0.415;95%CI,0.278至0.619;p<1.0×10-3),和油性鱼的摄入量(OR=0.746;95%CI,0.633至0.879;p<1.0×10-3)与GERD的风险呈负相关。敏感性分析显示没有反向因果关系的证据,多功能性,或异质性。
    结论:食物中添加酒精和盐会增加GERD风险,当面包摄入时,谷物摄入量,奶酪摄入量,摄入某些干果和某些新鲜水果,油性鱼降低了它。我们的研究证实了这些饮食与GERD之间的潜在因果关系,提供有针对性的预防策略的见解。
    OBJECTIVE: This study aimed to explore the potential causal relationship between dietary habits and Gastroesophageal Reflux Disease (GERD).
    METHODS: Using the inverse-variance weighted method, a two-sample Mendelian randomization (MR) analysis was performed to investigate the causal relationship between 22 dietary habits and GERD. The stability and reliability of the results were assessed using leave-one-out analysis, heterogeneity tests, and tests for horizontal pleiotropy based on the effect measure odds ratio (OR) and 95% confidence interval (CI).
    RESULTS: The results of the MR analysis indicated a positive association between alcohol drinking (OR=1.472; 95% CI, 1.331 to 1.629; p<1.0×10-3) and salt added to food (OR=1.270; 95% CI, 1.117 to 1.443; p<1.0×10-3) with the risk of GERD. Conversely, bread intake (OR=0.613; 95% CI, 0.477 to 0.790; p<1.0×10-3), cereal intake (OR=0.613; 95% CI, 0.391 to 0.677; p<1.0×10-3), cheese intake (OR=0.709; 95% CI, 0.593 to 0.846; p<1.0×10-3), dried fruit intake (OR=0.535; 95% CI, 0.404 to 0.709; p<1.0×10-3), fresh fruit intake (OR=0.415; 95% CI, 0.278 to 0.619; p<1.0×10-3), and oily fish intake (OR=0.746; 95% CI, 0.633 to 0.879; p<1.0×10-3) were negatively associated with the risk of GERD. Sensitivity analysis showed no evidence of reverse causation, pleiotropy, or heterogeneity.
    CONCLUSIONS: Alcohol and salt added to food raised GERD risk, while bread intake, cereal intake, cheese intake, intake of certain dried fruits and certain fresh fruits, and oily fish lowered it. Our study affirms the potential causal link between these diets and GERD, offering insights into targeted prevention strategies.
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  • 文章类型: Journal Article
    背景:观察性研究初步揭示了吸烟与胃食管反流病(GERD)之间的关联。然而,对两者之间的因果关系和共有的遗传结构知之甚少。这项研究旨在通过利用吸烟行为的全基因组关联研究(GWAS)来探索它们共同的遗传相关性,吸烟开始(SI),从不吸烟(NS),曾经吸烟(ES),每天吸烟(CPD),吸烟起始年龄(ASI)和GERD。
    方法:首先,我们进行了全局交叉性状遗传相关分析和汇总统计(HESS)遗传力估计,以探讨吸烟行为与GERD之间的遗传相关性.然后,进行了一项联合的跨性状荟萃分析,以确定吸烟行为和GERD之间共有的“多效性SNP”,其次是共同定位分析。此外,使用注释(MAGMA)的多标记分析用于探索特定组织中单核苷酸多态性(SNP)遗传力的富集程度,基于汇总数据的孟德尔随机化(SMR)进一步用于研究潜在的功能基因。最后,进行孟德尔随机化(MR)分析以探讨吸烟行为与GERD之间的因果关系。
    结果:通过全球和局部遗传相关性分析观察到一致的遗传相关性,其中SI,ES,CPD与GERD呈显著正相关,NS与ASI呈显著负相关。HESS分析还鉴定了它们之间的多个显著相关的基因座。此外,通过交叉性状荟萃分析和共定位分析鉴定了三个新的“多效性SNP”(rs4382592,rs200968,rs1510719),NS,ES,ASI,和GERD,定位基因MED27,HIST1H2BO,MAML3作为SI之间新的多效性基因,NS,ES,ASI,和GERD。此外,发现吸烟行为和GERD在多个脑组织中共同富集,使用GMPPB,RNF123和RBM6被鉴定为小脑半球共同富集的潜在功能基因,小脑,SI和GERD中的皮质/伏核,在尾状核中发现SUOX,小脑,NS和GERD中的皮质。最后,通过MR分析发现了一致的因果关系,表明SI,ES,CPD会增加GERD的风险,而NS和更高的ASI降低了风险。
    结论:我们确定了与吸烟行为和GERD相关的遗传基因座,以及共享富集的脑组织部位,优先考虑三个新的多效性基因和四个新的功能基因。最后,证明了吸烟行为与GERD之间的因果关系,为GERD的早期预防策略提供见解。
    BACKGROUND: Observational studies have preliminarily revealed an association between smoking and gastroesophageal reflux disease (GERD). However, little is known about the causal relationship and shared genetic architecture between the two. This study aims to explore their common genetic correlations by leveraging genome-wide association studies (GWAS) of smoking behavior-specifically, smoking initiation (SI), never smoking (NS), ever smoking (ES), cigarettes smoked per day (CPD), age of smoking initiation(ASI) and GERD.
    METHODS: Firstly, we conducted global cross-trait genetic correlation analysis and heritability estimation from summary statistics (HESS) to explore the genetic correlation between smoking behavior and GERD. Then, a joint cross-trait meta-analysis was performed to identify shared \"pleiotropic SNPs\" between smoking behavior and GERD, followed by co-localization analysis. Additionally, multi-marker analyses using annotation (MAGMA) were employed to explore the degree of enrichment of single nucleotide polymorphism (SNP) heritability in specific tissues, and summary data-based Mendelian randomization (SMR) was further utilized to investigate potential functional genes. Finally, Mendelian randomization (MR) analysis was conducted to explore the causal relationship between the smoking behavior and GERD.
    RESULTS: Consistent genetic correlations were observed through global and local genetic correlation analyses, wherein SI, ES, and CPD showed significantly positive genetic correlations with GERD, while NS and ASI showed significantly negative correlations. HESS analysis also identified multiple significantly associated loci between them. Furthermore, three novel \"pleiotropic SNPs\" (rs4382592, rs200968, rs1510719) were identified through cross-trait meta-analysis and co-localization analysis to exist between SI, NS, ES, ASI, and GERD, mapping the genes MED27, HIST1H2BO, MAML3 as new pleiotropic genes between SI, NS, ES, ASI, and GERD. Moreover, both smoking behavior and GERD were found to be co-enriched in multiple brain tissues, with GMPPB, RNF123, and RBM6 identified as potential functional genes co-enriched in Cerebellar Hemisphere, Cerebellum, Cortex/Nucleus accumbens in SI and GERD, and SUOX identified in Caudate nucleus, Cerebellum, Cortex in NS and GERD. Lastly, consistent causal relationships were found through MR analysis, indicating that SI, ES, and CPD increase the risk of GERD, while NS and higher ASI decrease the risk.
    CONCLUSIONS: We identified genetic loci associated with smoking behavior and GERD, as well as brain tissue sites of shared enrichment, prioritizing three new pleiotropic genes and four new functional genes. Finally, the causal relationship between smoking behavior and GERD was demonstrated, providing insights for early prevention strategies for GERD.
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  • 文章类型: Journal Article
    背景胃食管反流病(GERD)是一种全球性的胃肠道疾病,肥胖是一个特殊的危险因素。GERD的症状,比如胃灼热和胃酸反流,是由下食道异常松弛引起的,导致胃酸反流.持续的症状会影响患者的生活质量(QOL),并可能导致并发症,如食管腺癌。GERD的管理包括生活方式的改变,抗酸剂,和抗反流手术。尽管GERD是一种常见病,在沙特阿拉伯进行的研究很少。目的本研究旨在评估Al-Baha地区肥胖人群中GERD的患病率及其相关危险因素,以及GERD对其生活质量的影响。方法一项横断面研究包括来自Al-Baha地区的314名肥胖参与者。填写问卷以测量GERD的患病率,危险因素,以及对参与者生活质量的影响。数据由IBMSPSSStatisticsforWindows进行分析,版本26.0(2019年发布,IBMCorp.,Armonk,NY).采用描述性统计和卡方检验。采用Logistic回归分析确定与GERD发病相关的因素。P值<0.05被认为是统计学上显著的。结果共有314例符合纳入标准的患者完成了调查,其中42%为女性,所有患者的平均年龄为35.3±12.9岁,38.2%的患者诊断为GERD。胃痛和烧灼感是最常见的症状(44.9%)。QOL问卷的六个领域中有五个在GERD参与者中显示出比非GERD参与者更多的影响,结果具有统计学意义(p=0.001)。Logistic回归分析显示,男性被诊断为GERD的可能性是女性的1.8倍,吸烟者被诊断为GERD的风险是不吸烟者的2.6倍。结论本研究显示在Al-Baha地区肥胖患者中GERD的患病率较高,负面影响他们的QOL。主要危险因素包括性别、吸烟,血脂异常,和高血压。提高对这些危险因素和生活习惯的认识的公共卫生计划对于改善生活质量和预防并发症是必要的。
    Background Gastroesophageal reflux disease (GERD) is a global gastrointestinal disorder, and obesity is a particular risk factor. Symptoms of GERD, such as heartburn and acid reflux, are caused by abnormal relaxation in the lower esophagus, causing gastric acid reflux. Persistent symptoms can affect the patient\'s quality of life (QOL) and can cause complications, such as esophageal adenocarcinoma. Management of GERD includes lifestyle changes, antacids, and anti-reflux surgery. Even though GERD is a common disease, few research has been carried out on it in Saudi Arabia. Aim This study aimed to estimate the prevalence of GERD and its associated risk factors among obese individuals in the Al-Baha region population and the effect of GERD on their QOL. Methods A cross-sectional study included 314 obese participants from the Al-Baha region. A questionnaire was filled out to measure the prevalence of GERD, risk factors, and effects on the QOL of the participants. Data were analyzed by the IBM SPSS Statistics for Windows, version 26.0 (released 2019, IBM Corp., Armonk, NY). Descriptive statistics and the chi-squared test were applied. Logistic regression analysis was used to determine the factors associated with the incidence of GERD. A p-value of <0.05 was considered statistically significant. Results A total of 314 patients who met our inclusion criteria completed the survey; 42% of them were women, the mean age of all patients was 35.3 ± 12.9 years, and 38.2% of the patients were diagnosed with GERD. Epigastric pain and burning sensation were the most common symptoms (44.9%). Five out of six domains in the QOL questionnaire showed more effects among GERD participants than non-GERD participants, and the results were statistically significant (p = 0.001). Logistic regression analysis showed that men are 1.8 times more likely than women to be diagnosed with GERD, and smokers have 2.6 times the risk of being diagnosed with GERD than non-smokers. Conclusion The present study showed a high prevalence of GERD among obese patients in the Al-Baha region, negatively affecting their QOL. Major risk factors included gender, smoking, dyslipidemia, and hypertension. Public health programs to raise awareness of these risk factors and lifestyle habits are necessary to improve QOL and prevent complications.
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