武威市食管癌遗传流行病学研究

目的探索遗传因素在武威市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一对照家系研究。收集225例武威籍原发性食管癌患者及其对照的家系资料,调查这些家系所有亲属的食管癌发病情况。食管癌家族聚集用二项分布（P＋q）“数学模型拟合,用χ2进行配合适度检验。分别按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。结果武威市225例食管癌家族中的食管癌分布超过了二项分布的概率范围（χ2=50．36,P〈0．01）;食管癌的分离比为0．0643,显著〈0．25;单基因显性简单分离分析（分离比0．50）,χ2=645．97,P〈0．ol;单基因隐性简单分离分析（分离比0．25）,χ2=193．20,P〈0．01;先证者一级亲属的遗传度为（24．29±0．46）％。结论武威市食管癌发病具有明显的家族聚集性。先证者食管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。遗传因素对食管癌的发病约占整个危险因素的1／4。     

甘肃省武威市上消化道肿瘤遗传流行病学研究

摘 要：［目的］ 探讨遗传因素在武威市上消化道肿瘤（胃癌、食管癌和肝癌）发病中的作用及上消化道肿瘤的遗传模式。［方法］ 采用以人群为基础的病例-对照家系研究。分别收集武威籍原发性上消化道肿瘤患者及其对照的家系资料,调查这些家系所有亲属的上消化道肿瘤发病情况。上消化道肿瘤家族聚集用二项分布(p+q)n数学模型拟合,用χ2进行配合适度检验。分别按Li-Mantel-Cart 法计算上消化道肿瘤的分离比、Penrose 法估计遗传模式、Falconer 法计算遗传度。［结果］ 武威市上消化道肿瘤家族中胃癌、食管癌、肝癌的分布均超过了二项分布的概率范围(P<0.01);食管癌、胃癌、肝癌的分离比分别为0.0830、0.0642、0.0990,显著小于0.25;单基因显性简单分离分析(分离比1/2),P值均小于0.01;单基因隐性简单分离分析(分离比1/4),P值仍然均小于0.01;胃癌、食管癌、肝癌先证者一级亲属的遗传度分别为23.06%±0.64%、24.29%±0.62%、56.54%±0.63%。［结论］ 武威市上消化道肿瘤发病具有明显的家族聚集性,先证者上消化道肿瘤遗传不符合单基因显性和隐性遗传而是属于多基因遗传,遗传因素对上消化道肿瘤的发病具有一定的贡献,约占整个危险因素的1/4~1/2。     

福建省安溪县食管癌的遗传流行病学研究

[目的]探讨遗传因素在福建省安溪县食管癌中的作用及食管癌的遗传模式。[方法]应用遗传流行病学研究方法,调查分析食管癌病例组和对照组的一级亲属患食管癌的患病情况,应用Li-Mantel-Gart法与Penrose法估计遗传模式,Falconer法计算遗传度。[结果]安溪县食管癌具有家族聚集性,Li-Mantel-Gart法与Penrose法结果显示食管癌属于多基因遗传性疾病,分离比为0.0433(95%CI=0.0338～0.0528),其一级亲属遗传度为38.66%±2.67%。[结论]安溪县食管癌具有明显的家族聚集倾向,符合多基因遗传模式。     

479例肝细胞癌先证者家族聚集性分析

目的通过肝细胞癌（HCC）先证者一级亲属发病调查情况,探讨HCC病例分布的家族聚集性的特点。方法应用临床流行病学横断面研究方法,对2004～2008年广西医科大学附属肿瘤医院HCC先证者家系中一级亲属HCC发病情况进行调查,回顾性采用Poisson（泊松）分布模型拟合,并用频数分布拟合优度的x。检验进行验证。对有家族史的HCC分布用二项分布（p＋q）n模型拟合。HCC分离比采用Li—Mantel—Gart法估算。结果HCC先证者479例,占住院人数16．91％（479／2832）。该家族中实际病例数分布超越了二项分布的概率范围（P=0．028）。HCC的分离比为0．04,分离比方差为0．00001509,标准误为0．003885,95％可信限区间：0．033784～0．046216。结论HCC发病具有家族聚集现象,主要集中在一级亲属,HCC的遗传方式为多基因遗传,HCC先证者家系是HCC发病的危险因素之一。     

胃癌的家族聚集性研究

本文采用遗传流行病学病例对照研究方法,探讨遗传因素在胃癌病因中所起的作用,并研究胃癌的家族聚集性.结果病例组有胃癌家族史的比例(22.53%)显著高于对照组(10.79%),病例组一级亲属患胃癌的比例(3.21%)高于对照组(1.44%,0R=2.27,95%CI1.38～3.73).用(p+q)n模型拟合结果家族中实际病例数的分布高于二项分布的概率范围,经频数分布拟合优度的检验,P＜0.01,说明胃癌在家族中并非按机会均等的概率分布,而是呈现明显的家族聚集现象,胃癌家族史是胃癌发生的危险因素.     

上海市区食管癌家族聚集性研究

目的研究上海市区食管癌家族聚集性。方法用全人群病例┐对照研究方法，调查９０２例３０～７４岁食管癌新发病例，按频数配对随机配以１５５２例对照。结果食管癌家族史是食管癌的危险因素，男女相对危险度达到２～３左右，食管癌发病风险随着一级亲属患病人数的增多而增加（趋势检验Ｐ＜０．００１）。食管癌家族史调整人群归因危险度男性、女性分别为８．３％、９．２％。经过Ｌｉ┐Ｍａｎｔｅｌ┐Ｇａｒｔ法计算食管癌分离比为３．８３％（９５％ＣＩ＝３．１２％～４．４８％），提示属多基因遗传。根据Ｆａｌｃｏｎｅｒ方法，男性、女性遗传度分别为３３．２％±５．３％，３８．４％±３．６％，男女合并为３５．７％±２．２％。结论上海市区食管癌存在家族聚集现象。食管癌家族史增加食管癌发病风险。研究表明尽管遗传因素在食管癌的发生中起一定作用，但食管癌的发病风险主要来自环境因素。     

武威市胃癌遗传因素研究

目的 :探讨武威市胃癌的遗传因素。方法 :应用移民流行病学研究方法对移居新疆奇台县的武威籍居民的胃癌患病情况进行调查 ;根据胃癌死亡登记资料采用Poisson(泊松 )分布模型拟合 ,并用频数分布拟合优度的 χ2 检验进行验证。胃癌家族史调查采用病例 -对照研究方法 ,对有家族史的胃癌分布用二项分布 (p q) n 模型拟合。胃癌的分离比、遗传度分别采用Li Mantel Cart法与Falconer回归法估算。结果 :移民胃癌一代及后裔均较祖籍武威同期的死亡率 ( 5 7 61/10万 )为低 ,但高于定居地奇台县同期死亡率 ( 2 3 67/10万 )的水平。胃癌在以村为单位和家族中呈现地区和家族聚集性 ,P <0 0 1。胃癌的分离比为 0 0 774,显著<0 2 5。胃癌一级亲属的遗传度为 2 2 91% ,二级亲属遗传度为 2 0 0 7%。结论 :武威市胃癌发病存在遗传易感性 ,遗传所起的作用占 1/4～ 1/5 ,遗传方式为多基因遗传。     

食管癌家族易感性与免疫功能的研究──有家族史的食管癌患者及其亲属的免疫功能测定

对有食管癌家族史的５８例食管癌患者及其２３名一级亲属、２０例其他癌家族史的食管癌患者，进行了细胞免疫功能测定，并以无癌家族史的１１４例食管癌患者及３０例正常人作为对照。结果表明，有癌家族史的患者，其皮肤迟发超敏反应和淋巴细胞转化，明显低于无癌家族史者（Ｐ＜０．０５）；其一级亲属的迟发超敏反应，淋巴细胞转化、ＩＬ－２诱导反应、ＮＫ活性亦明显低于对照组。而且，约２／３的有癌家族史的患者，与其亲属有着类似的免疫缺陷。此结果提示，食管癌的家族易感性可能亦与家族性的免疫缺陷有关。     

广东籍鼻咽癌患者家族聚集性研究

目的研究高发区广东省鼻咽癌的家族聚集性规律,为反映高发区鼻咽癌的遗传流行病学特点及遗传咨询提供资料。方法收集1998年1月~2000年8月在中山大学肿瘤防治中心治疗的全部广东籍初诊鼻咽癌患者共1142例的病案资料。按照事先制定的调查表,收集患者的一般资料及家族中的肿瘤情况。结果在广东籍人群中,21.9%的鼻咽癌患者具有肿瘤家族史,其中12.3%的患者有鼻咽癌家族史。家族中肿瘤患者70%左右发生于一级亲属中,家族中鼻咽癌患者在父母和兄弟姐妹中发生的比率相当。广东省内高发区的患者亲属同患鼻咽癌的比例为19.8%,明显高于省内其他地区同患鼻咽癌的比例8.5%,χ2=0.236,P<0.01。结论在鼻咽癌高发区广东省,鼻咽癌具有显著的家族聚集性,而且越高发的地区其家族聚集性越强。     

食管癌家族易感性与免疫功能的研究：有家族史的食管癌患者及…

对有食管癌家族史的５８例食管癌患者及其２３名一级亲属、２０例其他癌家族史的食管癌患者，进行了细胞免疫功能测定，并以无癌家族史的１１４例食管癌患者及３０例正常人作为对照，结果表明，有癌家族史的患者，其皮肤迟发超敏反应和淋巴细胞转化，明显低于无癌家族史者（Ｐ＜０．０５）；其一级亲属的迟发超敏反应，淋细胞转、ＩＬ－２诱导反应、ＮＫ活性亦明显低于对照组。而且，约２／３的有癌家族史的患者，与其亲属有关类似的     

A Genetic Epidemiological Study on Esophageal Cancer and Carcinoma of the Gastric Cardia in Cixian County of Hebei Province

OBJECTIVE To investigate the role of family aggregation and genetic factors of esophageal cancer (EC), including carcinoma of gastric cardia (CGC), in Cixian county, and to calculate the segregation ratio and heritability of fi rst-degree relatives (FDR) in EC cases. METHODS A case control study was conducted, and each of 285 esophageal cancer cases and FDR's case history and family medical history of EC in 1415 controls was carried by home visits to compare the incidence of EC in the crowds. The family aggregation of EC was found by χ2 test for goodness of fit test according to binomial distribution. Li-Mantel-Gart method was used to calculate the segregation ratio and Falconer method was employed to compute the heritability (h2). RESULTS The incidence rate of the FDR in the index case of EC (12.80%) was higher than that in the controls (7.52%). There were significant differences between the 2 groups (χ2= 44.34, P = 0.000). The distribution of EC in the family did not agree with the binomial distribution, which presented a conspicuous familial aggregation (χ2= 288.19, P < 0.0001). The heritability of EC was (29.67 ± 4.32)%, and segregation ratio was 0.1814 (95%CI =0.1574-0.2054), which is lower than 0.25, and can be regarded as a disease of multi-factorial inheritance. CONCLUSION The occurrence of EC in the Cixian County is the outcome of the mutual effect of genetic and environmental factors. The family history of upper gastrointestinal cancers increases the risk of EC in late generations.     

A genetic epidemiological study on esophageal cancer and carcinoma of the gastric cardia in Cixian county of Hebei Province

Objective  

To investigate the role of family aggregation and genetic factors of esophageal cancer (EC), including carcinoma of gastric cardia (CGC), in Cixian county, and to calculate the segregation ratio and heritability of first-degree relatives (FDR) in EC cases.     

Heredity,diet and lifestyle as determining risk factors for the esophageal cancer on Nanao Island in Southern China

In this case–control study we evaluated contribution of environmental and genetic factors for risk of esophageal cancer (EC) by studying populations on Nanao Island (highest risk area for EC in China) and Shanwei (low risk region). Data on lifestyle, diet and family history were collected from the 166 newly diagnosed EC patients on Nanao between 2003 and 2004, from their 1450 first degree relatives and from controls on Nanao and Shanwei. Univariate and logistic regression analysis, family aggregation patterns, standardized incidence ratio (SIR), segregation ratio and heritability index were evaluated. The family cancer history was a significant risk factor for the two scenarios; Nanao cases versus Nanao controls, and Nanao controls versus Shanwei controls. Other risk factors included smoking, alcohol and fermented fish sauce. After adjusting for confounding variables, family history was independently associated with the occurrence of EC in Nanao cases versus Nanao controls. The incidence in the first degree relatives of Nanao cases was 0.86%, significantly higher than that of the public (0.12%) and SIR value was 1.44 in the first degree relatives of the 166 EC cases. The segregation ratio was 0.11 and the heritability index among first degree relatives was 40%. Our study indicates that there are steady pathogenic risk factors in the Nanao population’s lifestyle but genetic factors also play an important role for EC onset.     

Familial risks of esophageal cancer among the Turkmen population of the Caspian littoral of Iran

In northeastern Iran, there is an area of high incidence of esophageal cancer, which is populated by residents of Turkmen ancestry. Several environmental risk factors for esophageal cancer have been proposed, but the roles of familial and genetic factors have not been studied extensively in the Turkmen population. We evaluated the importance of familial risk factors for esophageal cancer by performing a case-control study of 167 cases of esophageal squamous cell carcinoma and 200 controls of Turkmen ethnicity. Detailed family pedigrees of the cases and controls were constructed, which documented all cancers in first- and second-degree relatives. The actuarial risk of cancer was then estimated in 2,097 first-degree relatives of cases and 2,783 first-degree relatives of the controls. A hazard ratio was constructed, based on a comparison of the 2 cumulative incidence curves. The risk to age 75 of esophageal cancer in the first-degree relatives of Turkmen patients with esophageal cancer was 34% versus 14% for the first-degree relatives of the controls (hazard ratio = 2.3; p = 3 x 10(-8)). Cases (9.6%) reported that their parents were related, versus 2.5% of the controls who reported this. (odds ratio = 4.1; p value = 0.006). Familial factors are important in the etiology of esophageal cancer among the Turkmen residents of Iran. The hazard ratio of 2.3 for cancer among first-degree relatives is consistent with an important contribution of heritable factors. It will be of interest to perform marker studies to establish which genes are responsible.     

胃癌双Y核心家系的遗传流行病学系列研究(Ⅱ)--分离比和遗传度的研究

目的 探讨遗传因素造成扬中市胃癌家族肾聚集性的作用方式与强度。方法 利用全新设计的双Ｙ核心家系调查方法,对扬中市４４８个胃癌核心家系和４３７个对照家系,共５２４２人进行了分离比和遗传度研究。结果 祛除先证者后,扬中市胃癌家系的调整分离比为０．０１４３,表明同胞中胃癌发病率远低于单基因遗传病的０．２５,符合多基因遗传方式;一级亲属中胃癌的调整遗传度为２３．８％,男性（２７．８％）明显高于女性（１７．     

Genetic Epidemiological Analysis of Esophageal Cancer in High-incidence Areas of China

Genetic epidemiological studies have shown that genetic susceptibility to esophageal cancer (EC) is animportant cause of its high incidence within families in some areas of China. The purpose of this study was toobtain evidence of a genetic basis of EC in Xin-an and Xin-xiang counties in China. Familial aggregation andcomplex segregation analyses were performed of 79 EC families in these counties. The heritability of EC wasexamined using Falconer’s method and complex segregation analysis was conducted with the SEGREG programin Statistical Analysis for Genetic Epidemiology (SAGE version 5.3.1). The results showed that the distribution ofEC in families did not fit well into a binomial distribution. The heritability of EC among first-degree and seconddegreerelatives was 67.0±7.31% and 43.1%±9.80%, respectively, and the summing up powered heritability was53.2±6.74%. The segregation ratio was 0.045. Complex segregation analysis showed that the genetic model ofEC was additive. The current results provide evidence for an inherited propensity to EC in certain high-riskgroups in China, and support efforts to identify the genes that confer susceptibility to this disease.     

Aggregation of cancer among relatives of never-smoking lung cancer patients

The authors evaluated the familial aggregation of lung and other cancers in first-degree relatives of lung cancer patients self-reported to be lifetime never smokers. The data, derived from a large lung cancer case-control study, included 2,465 first-degree relatives of 316 never smoker lung cancer cases and 2,441 first-degree relatives of 318 never smoker controls, frequency matched to the cases on age, gender and ethnicity. The median age of the cases and the controls was 61 years, about 2/3 were women, and about 80% were Caucasian. Overall, there was a 25% excess risk [95% CI (1.05-1.50)] of any type of cancer among the first-degree relatives of cases, and case offspring exhibited a 2-fold excess cancer risk (1.03-4.10) compared with control offspring. There was also a 44% excess risk (1.05-1.97) of young onset cancers (before age 50) among relatives of cases. Smoking case relatives had an increased risk of any cancer [odds ratio (OR) = 1.36 (1.03-1.81)] and a 5.52-fold risk (1.19-25.51) of young onset lung cancer compared with smoking control relatives. Female case relatives had a 58% excess breast cancer risk (1.04-2.43), and case mothers a 2.57-fold breast cancer risk (1.16-4.24). A significant excess of testicular cancer was observed among case male relatives [OR = 12.32 (1.71-88.90)], although based on only 9 cases. The age at lung cancer diagnosis tended to be earlier in case relatives (61.4, SD = 12.9) compared with control relatives (66.2, SD = 11.4; p = 0.07). Our analysis provides further evidence for the importance of genetic factors for lung cancer in never smokers.     

中国家族性胃癌的研究

Objective: The aim of the study was to investigate the influence of gastric cancer family history in the gastric can-cer (GC) patients. Methods: Gastric cancer family histories within second degree relatives and clinicopathological features were obtained for 497 patients. Results: Of the 497 probands, 235 probands were incorporated into familial gastdc cancer (FGC) group (there were at least two GC members in the family); 262 probands were included in the non-FGC group (relatives only affected with non-GCs). Of 614 tumors in relatives, GC was the most frequent, followed by lung cancer, esophageal can-cer, hepatocellular cancer, colorectal cancer, urogenital cancer, breast cancer, and pancreatic cancer. Most affected members aggregated within first-degree relatives. The ratio of males to females in affected first-degree relatives was usually higher in male probands. Paternal history of GC was a strong risk for GC in males, while risk of GC by maternal history of GCs was increased in females. Difference in tumor histological types between the two groups was derived from an excess of diffuse GC in non-FGC male probands. The lower site was the most frequent tumor location in all subgroups. Conclusion: Distribu-tion of associated non-GCs in a family history of GC may vary with geographic areas. GC may have different genetic and/or environmental etiology in different families, and a certain subtype may be inherited in a male-influenced fashion.     

Family history of cancer and associated risk of developing neuroendocrine tumors: a case-control study.

BACKGROUND: Carcinoids are rare neuroendocrine tumors (NET). Familial clusterings of NETs are rarely reported, except for a small proportion associated with multiple endocrine neoplasia syndrome type 1. We evaluated the effect of positive family history of NET as well as other cancers on the development of NETs arising at five different locations. METHODS: We conducted a retrospective, hospital-based, case-control study involving 740 patients with histologically confirmed NETs and 924 healthy controls. Information on family history of cancer was collected, and unconditional logistic regression analysis was used to determine adjusted odds ratios (AOR) and 95% confidence intervals (CI). RESULTS: The authors observed a significant relationship between first-degree relatives with cancers and the development of NETs arising at the small intestine, stomach, lung, and pancreas; AORs (95% CI) were 1.6 (1.1-2.4), 2.5 (1.1-6.3), 2.6 (1.5-4.5), and 1.8 (1.1-3.1), respectively. A first-degree family history of esophageal cancer was significantly associated with pancreatic NETs; AOR, 5.6 (95% CI, 1.1-29.6). There was a 70% and 130% increased risk of developing small intestinal NETs among subjects with family histories of colorectal cancer and prostate cancer, respectively. Moreover, individuals with a family history of lung cancer had a 2-fold increase in risk of developing pulmonary NETs. CONCLUSIONS: Having a first-degree relative with any cancer in general, and NET in particular, was a risk factor for NETs. The elevated risk of developing NETs extended to individuals with a family history of other cancers (not NETs) among first-degree relatives. These results suggested that risk of NETs may be partially explained by genetic factors.