淮安地区食管癌遗传流行病学研究

[目的]了解遗传因素在淮安地区食管癌发病中的作用及食管癌的遗传模式.[方法]采用以人群为基础的病例对照家系研究,收集97对淮安当地原发性食管癌患者及其对照的家系资料,调查这些家系所有一级亲属的肿瘤发病率;应用多因素非条件Logistic回归估计食管癌家族史的发病风险,Li-Mantel-Gart法计算食管癌的分离比,Penrose法估计遗传模式,Falconer法计算遗传度.[结果]淮安地区食管癌先证者与对照的食管癌家族史差异有统计学意义,先证者家系的一级亲属食管癌患病风险显著高于对照家系,其同胞分离比为0.026(95%CI:0.0003～0.028),Ⅰ级亲属食管癌的遗传度为(24.769±7.038)%.[结论]淮安地区食管癌具有明显的家族聚集性,遗传因素在淮安地区食管癌病因中占一定比重,其遗传模式呈现多基因遗传方式.     

青年人大肠癌与中老年人大肠癌的比较病例对照研究

本研究通过比较影响不同年龄组大肠癌发病的危险因素，说明青年人与中老年人大肠癌的可能病因学差异。结果表明：①＞４０岁组大肠癌与环境因素（主要是饮食、营养因素）的联系性比≤４０岁组密切；②家族遗传因素对≤１０岁组大肠癌的发病影响比＞４０岁组高２倍以上。提示大肠癌发病是环境因素与遗传易感性的累积效应，但各自的作用度在不同年龄组大肠癌中存在差异性。     

山东省东平县食管癌遗传流行病学调查

目的探讨东平县食管癌家庭聚集性及遗传因素在食管癌发生中的作用。方法采用以医院为基础的病例-对照研究资料,调查了472例食管癌的新发病例及472例对照者的一、二级亲属食管癌患病及家族史等情况,比较各级亲属食管癌的发生率。用二项分布拟合优度检验食管癌家庭聚集性;Falconer法计算遗传度。结果食管癌先证者一级亲属发生率(12.53%)高于对照者一级亲属发生率(4.96%),差别有统计学意义(χ2=104.998,P=0.000)。食管癌遗传度为(45.98±5.56)%,存在家族聚集性,分离分析也表明分离比为0.1456(小于0.25),属于多基因遗传病。结论遗传因素在东平县食管癌发病中起着重要作用,食管癌家族史增加食管癌发病风险。     

林州市食管癌家族聚集性分析

目的 :研究林州市食管癌家族聚集性及遗传因素在食管癌发生中的作用 ,以探讨遗传因素在食管癌发病中的地位。方法 :采用以医院为基础的病例对照研究资料 ,调查了 118例食管癌新发病例及 168例对照的Ⅰ、Ⅱ级亲属食管癌发病情况 ,比较病例对照各级亲属食管癌发生率。用Falconer法计算遗传度。结果 :病例及对照亲属食管癌发病率比较显示 ,血缘关系越近 ,亲属食管癌发病率越高 ,患者Ⅰ、Ⅱ级亲属的食管癌发病率分别为 12 .32 %和 4 .84 % ,高于相应对照组的 3.92 %和 2 .58%。Ⅰ、Ⅱ级亲属的危险度 (RiskRatio ,RR)分别为 3.15( 2 .15～ 4 .61)和1.87( 1.2 6～ 2 .79) ,分层分析RR为 2 .4 6( 1.87～ 3.2 3)。Ⅰ级亲属遗传度为 53.39± 5.93% ,Ⅱ级亲属为 50 .2 1± 10 .75%。加权遗传度为 52 .2 6± 3.82 %。结论 :林州市食管癌有明确的家族聚集性 ,遗传因素在食管癌的发生中起较为重要的作用 ,但环境因素亦不可忽视     

河南省致死性家族失眠症家系遗传生物学分析

目的 了解河南省致死性家族性失眠症(FFI)临床表现、致病因子、遗传规律及家族性流行特征,探索预防及控制对策.方法 对河南省FFI家系7代175名家族成员的迁徙史和发病史进行追踪调查分析,采集患者及家族成员静脉血标本进行PRNP基因检测、限制性片段长度多态性(RFLP)NspI酶切分析及序列测定,对死亡患者尸检、采集脑组织进行神经病理学检查和western blot方法检测PrPSc蛋白.结果 2例FFI确诊患者临床症状典型;该FFI家族中死亡的23人中有13人出现与先证者相似的FFI临床症状;90个家族成员血标本检测中出现20个PRNP基因178位密码子突变携带者,129位等位基因为M/M纯合子,突变检出率为22.22%;男女性别比约为1∶1;自先证者祖父辈以来发病年龄有逐渐提前的趋势(遗传早现).结论 该家系FFI家族聚集性发病特点明显,是国内罕见的最大的朊病毒引起FFI发病的家族.     

肝癌遗传模式与危险因素病例-对照研究

目的探讨肝癌的危险因素及遗传模式,为肝癌的预防提供科学依据。方法采用病例-对照研究,以98例肝癌病例和196名健康对照作为研究对象,询问其暴露史;采用Penrose法、简单分离分析和Falconer法对98例原发性肝癌家系资料进行遗传流行病学研究。结果乙肝病史、亲属肿瘤史、食用盐腌食品史、肝硬化病史、饮用地表水与浅井水、饮酒等因素的比值比分别为5.18,8.40,2.16,9.33,2.56,2.61;单基因显性简单分离分析(分离比1/2)χ2=219.44,P<0.01;单基因隐性简单分离分析(分离比1/4)χ2=67.74,P<0.01;应用Penros法计算同胞肝癌发生率,一般人群肝癌发生率(s/q)接近1/q1/2;先证者一级亲属的遗传度为(58.74±5.43)%。结论乙肝病史、亲属肿瘤史、食用盐腌食品史、肝硬化病史、饮用地表水与浅井水、饮酒等是武威市肝癌发病的危险因素;先证者肝癌遗传不符合单基因显性和隐性遗传而是属于多基因遗传,遗传因素对肝癌的发病具有一定的贡献,约占整个危险因素的3/5。     

Ⅱ型糖尿病的家庭聚集性研究

目的　通过对Ⅱ型糖尿病家庭聚集性的分析,探讨遗传因素在糖尿病患者一级亲属成员发病中所起的作用及其相对危险度。方法　采用以人群为基础的遗传流行病学病例对照研究方法,对３６３ 例Ⅱ型糖尿病先证者家系及２９１ 例人群对照家系进行了调查。结果　先证者家系一级亲属糖尿病的患病率为３ ．９４ ％ ,对照组一级亲属为１ ．０９ ％ ,相对危险度为３ ．６２ ,各组血缘亲属的相对危险度均在３ ．０ 以上;糖尿病先证者诊断时年龄越轻,其一级亲属的糖尿病患病率和相对危险度越高,其家系内发生多例糖尿病病例的可能性越大。结论　Ⅱ型糖尿病具有明显的家庭聚集倾向,其一级亲属对糖尿病的遗传易感性较高,是糖尿病预防和控制的重点人群。     

防范大肠癌 筛查是关键

<正>近年来,我国大肠癌(包括结肠癌和直肠癌)的发病率呈逐年上升趋势,年发病增长率为4.2%,远远超过了西方国家的2%。早发现、早治疗是防治大肠癌的重要措施。大量研究结果显示,Ⅰ期大肠癌患者5年存活率高达95%以上,Ⅱ期为80%,Ⅲ期仅有50%~60%。现已查明,有家族肠癌遗传病史的人群、家族中有肿瘤遗传基因的人群、结肠息肉患者、50岁以上的高龄人群、慢性溃疡性结肠炎患者、来自日本血吸虫病流行地区和大城市居民及曾得过恶性肿瘤     

7大因素易引发大肠癌——及时肠镜检查很重要

在上世纪70年代,10万人中约有10人患大肠癌,此后每年以10%的速度递增,在经济发达地区发病率更高。不容忽视:大肠癌发病率在一路攀升!大肠癌与发病部位人的肠道分为小肠和大肠,后者包括结肠和直肠两部分(见图)。在直肠、结肠部位生长的癌瘤统称为大肠癌。其中,左半肠(直肠、乙状结肠及降结肠)癌占75%,右半肠(升结肠)癌占20%,而横结肠癌只占5%。直肠癌发病率最高,约占大肠癌的60%。大肠癌与发病年龄大肠癌发病多在41￣60岁人群(第一高峰期),其次是40岁以下人群(第二高峰期),61岁以上发病率较低(第三高峰期)。大肠癌第二高峰期人群多集中在25￣…     

不可小觑大肠癌

正大肠癌是结肠癌和直肠癌的总称,又称结直肠癌。大肠癌是指结肠和直肠内壁黏膜上皮发生恶性病变,如果没有及早接受治疗,严重者可导致死亡。目前研究表明,大肠癌是环境因素与遗传因素综合作用的结果。大肠癌的发生与慢性炎症如溃疡性结肠炎、大肠内息肉及腺瘤、遗传因素有关。我国新发病例以每年4%的速度增加,现占所有恶性肿瘤的第4位。     

Garlic, onion and cereal fibre as protective factors for breast cancer: A French case–control study

The role of diet on breast cancer risk was investigated in a case–control study of 345 patients diagnosed with primary breast carcinoma between 1986 and 1989 in the north-east of France (Lorraine). For each case, one control was matched for age (+/–3years) and socio-economic status. The dietary history questionnaire consisted of a self-administered food frequency questionnaire, a 6-day food diary and an energy expenditure record. It also elicited personal characteristics and medical history. While taking into account total caloric intake and established risk factors, breast cancer risk was shown to decrease as consumption of fibre (p value for trend=0.03), and garlic and onions (p value for trend<10–6) increased. This study also supports the epidemiologic evidence that saturated fat intake and breast cancer risk are associated in post-menopausal women (p value for trend=0.03). Conversely, it suggests that unsaturated fat intake could lower the risk in the same subgroup (p value for trend = 0.03). Our findings on protective factors of breast cancer could induce effective preventive measures and warrant further experimental investigations to isolate specific subfractions.     

Case-control study of dietary etiological factors: the Melbourne Colorectal Cancer Study

As part of a large-scale investigation of colorectal cancer (CRC) incidence, etiology, and survival, a case-control study was conducted to identify dietary factors associated with the risk of CRC. The study compared 715 cases with 727 age- and sex-matched community controls. A quantitative diet history, assessed to be the most representative of the previous 20 years, was obtained from each subject and analyzed for both food groups and nutrients. The combination of a high-fiber and high-vegetable intake was found to be protective against large bowel cancer. Cruciferous vegetable intake was also found, although with less certainty, to be protective. Dietary vitamin C was protective for estimated intakes greater than 230 mg/day. Dietary Beta-carotene had no separate association with the risk of CRC. Beef intake was a risk factor in males but not in females. Fat intake was a risk factor for both males and females. A low intake of milk drinks was a risk for both males and females. A high intake of pork and fish was protective. The use of vitamin supplements was highly protective. A risk score, which was calculated as the number of risk factors an individual has in his or her diet, showed an increasing monotonic relationship with risk of CRC. The effects of the dietary variables were similar for colon and rectal cancer and, with the exception of beef, were similar for males and females.     

大肠癌高发区嘉善县大肠癌危险因子的调查研究

在大肠癌高发区嘉善县进行了病例对照调查,以探索大肠癌的致癌危险因子。病例160名(结肠癌61名,直肠癌99名),对照320名。调查询问项目分食物项目和非食物项目。计算结果表明,在非食物方面,RR数值达到显著水平的有:肠息肉、腹泻、粘液血便、精神刺激、阑尾炎、阑尾切除和家族肿瘤史等;在食物方法,对照组比病例组摄入的粗纤维和维生素C的量多,且达到显著水平。     

Association between dietary fibre and cancer: A case-control study in Malaysia

A case control study to determine the association of dietary fibre and cancer among Malaysians. It was conducted among 100 newly-diagnosed cancer patients admitted to the Radiotherapy and Oncology Ward, Hospital Kuala Lumpur. A total of 100 controls matched with the cases for age, sex and ethnic origin were selected from the Outpatient Health Clinic in Sentul. The subjects were interviewed to obtain information on their habitual dietary intakes and lifestyles. Family history of cancer, smoking habits, and alcohol consumption were found to be significant risk factors for cancer (p<0.05 for all parameters). The mean intake of total energy was higher among men with nasopharyngeal cancer and women with gastrointestinal cancer as compared to their controls (p<0.05 for both parameters). The percentage of energy contribution from fat was higher among cases (35%) than controls (32.1%). The mean dietary fibre intake among cases (10.86 ± 8.90 g/d) was apparently lower than the controls (13.22 ± 5.99 g/d), with significant differences noted for breast cancer and also nasopharyngeal cancer. Women with low fibre intake (<10g/d) had a 2.2 times higher risk of getting breast cancer. There is a need to educate the public to adhere to a wholesome diet, in particular to increase the consumption of high-fibre food for disease prevention.     

饮食、营养素与结肠癌——基于全人群的病例-对照研究

本文以大样本全人群病例一对照研究数据分析食物摄入频度、摄入量及营养素与结肠癌的关系。结果表明:大多数蔬菜、粗纤维、维生素C、维生素B_2、钙、铁等营养素降低结肠癌的发病危险性;动物性食品、脂肪、能量与结肠癌的发病危险性关系不甚密切;油炸、腌制、咸霉食品增高结肠癌发病的相对危险度;葱蒜类、海带紫菜与结肠癌发病危险呈负相关。还探讨了结肠癌高低发地区病因学的异同以及膳食调查的回忆误差,食物摄入频度与摄入量对反映饮食与肿瘤之间联系的差异。     

Breast cancer risk factors in two distinct ethnic groups: Indian and Pakistani vs. American premenopausal women

Asian Indians from the Indian subcontinent have low rates of breast cancer, but studies on breast cancer risk factors in Indian and Pakistani women living in the United States are lacking. This study contrasted breast cancer risk factors [serum total 17 beta-estradiol (E2), sex hormone-binding globulin-bound E2, available E2, estrone (E1), and dehydroepiandrosterone sulfate, reproductive history, family history of cancer, body composition/size, dietary intake, physical activity, and excretion of isoflavones] between two distinct ethnic groups of premenopausal women residing in the United States. We also determined the contribution of these and other factors to the variability of each sex hormone. Distributions of values for serum total E2, available E2, and sex hormone-binding globulin-bound E2 (%) were greater (p < 0.005) in American (n = 47) than in Indian and Pakistani (n = 47) women. Multiple regression analysis indicated that 26% of the variability (p < or = 0.0001) in serum E2 was accounted for by the ratio of total cholesterol to high-density-lipoprotein cholesterol, length of time in the United States, and saturated fat intake, whereas less (17%) variability was accounted for by available E2 (representing free E2 + albumin-bound E2), contributed by the ratio of total cholesterol to high-density-lipoprotein cholesterol and saturated fat intake. Five variables accounted for 31% of the variability (p < or = 0.0001) in E1. The major finding of this study was that circulating sex hormone concentrations were determined more by environmental factors than by ethnicity, which was not a significant contributor to any of the serum hormones.     

胃癌亚类危险因子的流行病学研究——多组Logistic回归分析

根据胃癌发生阶段模式的认识，我们设计实施了一析的病例对照研究，分析方法采用多组Ｌｏｇｉｓｔｉｃ分析法，研究对象９为四组病例和一组对照，他们分别是胃癌组、重度异型增生组、慢性萎缩性胃炎伴肠化生组和溃汤病组以及对照组。对照组是病理证实胃粘膜正常或仅有轻度性慢浅表性胃患者。研究结果显示：胃癌的危险因素是长期居住在高发区，经济收低下，动物蛋白摄入量少，地瓜、墨鱼摄入量大，暴饮暴食和精神创伤。重度异增生的危     

Mechanisms and experimental and epidemiological evidence relating dietary fibre (non-starch polysaccharides) and starch to protection against large bowel cancer

The cause of human colo-rectal cancer is unknown, although international and racial comparisons suggest that diet may be important. Within populations, risk of cancer is also affected by genetic factors which remain to be elucidated. Dietary fibre and NSP consumption is not always high in populations at low risk of colo-rectal cancer, but rates are fast increasing with westernization (and meat and fat consumption) in Japan. The suggestion that dietary fibre is protective in colo-rectal cancer is based on the fact that cereal fibre from bran increases faecal weight, dilutes large intestinal contents, and speeds up transit time. In animal models, bran reduces the number of tumours induced by chemical carcinogens, and cellulose may have a similar effect. The faeces of some individuals contain mutagens, some of which have been identified as fecapentaenes and heterocyclic amines. Bran reduces faecal mutagenicity, although the mutagen concerned is unknown. Most dietary fibre is fermented in the large gut by anaerobic bacteria and little remains in faecal matter. Recent observations have shown that substantial amounts of starch survive digestion in the small bowel and are available also for fermentation in the large gut. The metabolic consequences of fermentation may be important in carcinogenesis via altered N metabolism, SCFA production, and pH reduction. Methane is also produced in some individuals, but, contrary to previous findings, is not a risk factor for large bowel cancer. Starch appears to be beneficial as a substrate for fermentation because yields of the SCFA butyrate are increased both in vitro and in vivo. Butyrate is an energy substrate for the colonic mucosa and an anti-proliferative and differentiating agent in cell culture lines. Possible mechanisms whereby starch and NSP may protect against colo-rectal cancer, therefore, exist. The majority of individual case-control epidemiological studies suggest that fibre-containing foods are protective in colo-rectal cancer, although this effect is largely due to vegetable, rather than cereal, consumption. Case-control studies of diet and large bowel cancer may, however, reflect the effect rather than the cause of the disease, so that confirmation of the possible protective effects of starch and NSP is needed from accurate prospective studies both of diet and associated risk factors.     

(n-6) PUFA increase and dairy foods decrease prostate cancer risk in heavy smokers

Previous studies offer suggestive, but not definitive, evidence that total fat or specific fats may increase prostate cancer risk. This study investigates associations of dietary fat, meat, and dairy foods with prostate cancer risk among 12,025 men in the Carotene and Retinol Efficacy Trial (CARET). After 11 y of follow-up, 890 incident prostate cancers were reported and confirmed. Diet was assessed by a biannual FFQ. Cox proportional hazards models were used to estimate multivariate-adjusted hazard ratios (HR) of intake of fat and fat-related foods (meat and dairy) with prostate cancer incidence. Multiplicative interaction terms tested whether associations differed by family history, race, or smoking. Overall, fat was not associated with total, nonaggressive or aggressive prostate cancer. In subgroup analyses the HR for men with a family history of prostate cancer were 2.47 (95%CI = 0.96-6.37) and 2.61 (95% CI = 1.01-6.72) for total polyunsaturated fat (PUFA) and (n-6) PUFA for the 4th vs. 1st quartiles of intake, respectively. Red meat was not associated with total or aggressive prostate cancer. However, higher dairy intake had a statistically significant reduced risk of aggressive prostate cancer than lower dairy intake (HR = 0.59, 95% CI = 0.40-0.85). Dairy foods also protected current, but not former, smokers against aggressive cancer (HR = 0.42, 95% CI = 0.25-0.70). Our findings suggest that associations of dietary fat with prostate cancer risk may vary by type of fat or fat-containing food, and that risk may vary by host factors, including family history and smoking.     

大肠癌相关因素的条件logistic回归分析

目的 探讨与大肠癌发病相关的危险因素,为大肠癌的防治提供科学依据.方法 采用1:1配对病例对照研究方法,对大连市新发200例大肠癌患者及相同数量的对照使用统一设计的调查表进行调查.所获资料根据资料的类型采用χ~2检验、秩和检验或单因素条件logistic回归分析进行单因素分析,然后对初步筛选出的与大肠癌发病关系密切的研究因素,纳入多因素条件logistic回归模型进行多因素分析.结果 多因素条件logistic回归分析结果 显示,便秘史、其他癌症家族史、十年前较多食用腌制食品以及平常爱生闷气为大肠癌的相关危险因素,而十年前较多食用新鲜蔬菜为大肠癌的相关保护因素.单因素分析结果 还显示,居住地周围有排污工厂、熬夜史、腹部放射线检查史、大肠癌家族史、痔疮史、阑尾炎及阑尾手术史、十年前较多食用贝类、煎、炸、烤制食品、动物肝脏、经常感到有压力、不愿和别人沟通、处事态度偏于悲观及与同事相处一般等为大肠癌的危险因素.同时,十年前较多摄入鸡肉、豆及其制品、生蒜、体育锻炼及其频次、十年前人均月收入及生活费用高为大肠癌的保护因素.结论 大连市大肠癌的发病是多因素综合作用的结果 ;便秘史、其他癌症家族史、经常爱生闷气、十年前较少摄入新鲜蔬菜及过多摄入腌制食品等因素与大肠癌的发生的关系值得关注.