家族高发性2型糖尿病家系人群的建立与特征分析

目的：建立一个可用于系统研究2型糖尿病遗传和环境危险因素的高发家系人群。方法：选择可能的家族性2型糖尿病家系140个，全部非患者采血做OGTT确认，并对新老患者用免疫学方法、系谱分析和分子生物学方法排除1型糖尿病、MODY型和线粒体遗传阳性家系，对有2个或2个以上2型糖尿病患者的115个家系进行分析。结果：先证者亲属中2型糖尿病患病率为34．20％，新检出率为8．77％，两代以上有患者的家系数占59．13％，先证者同胞患病率为48．37％，不同性别组的患病率和新检出率无显著差异，在115个家系中未观察到有统计学意义的母系效应。结论：该家系人群家系结构全面，诊断明确，亲属为糖尿病发病高危人群，适合作为进一步研究遗传和环境危险因素的目标人群。     

家族性2型糖尿病与心血管病危险因素研究

目的 研究2型糖尿病家系人群的心血管疾病危险因素聚集情况。方法 选择有2个或2个以上2型糖尿病患者的家系115个，共有287例患者为病例组，非糖尿病亲属168人为对照组，进行病例一对照研究。应用X^2检验、二项分类Logistic回归方法分析病例组和对照组的心血管疾病危险因素检出率及聚集性。结果 病例组、对照组心血管疾病危险因素聚集检出率分别为82．2％和53．0％；二项分类Logksdc回归分析显示心血管疾病危险因素聚集是2型糖尿病的独立危险因素，其OR值为2．201。结论 心血管疾病危险因素聚集是家族高发性2型糖尿病的主要危险因素。     

2型糖尿病的遗传流行病学研究

目的 探讨遗传因素在2型糖尿病发生中的作用及其一般遗传模式。方法 对21个2型糖尿病先证者进行家系调查，应用Falconer同归法估算遗传度，Penrose’s法、Li-Mantel-Gait法及江三多的阈值模型理论估计2型糖尿病分离比、遗传模式等。结果 2型糖尿病先证者一级亲属患病率为7．6％，高于一般人群患病率；2型糖尿病遗传度为46．8％；Penrose’s法计算同胞患病率（s）/人群患病率（q）为3．312，接近1／q^1/2；简单分离分析结果显示，分离率P为0．131，低于0．25；阈值模型理论推算出2型糖尿病一级亲属的理论发病率为8．0％，实际发病率为7．6％。结论 2型糖尿病有明显遗传倾向，但不符合单基因遗传模式，具有多基因遗传特征。     

Ⅱ型糖尿病家族聚集性的流行病学研究

目的　探讨家族遗传因素在Ⅱ型糖尿病发生发展中的作用。方法　采用遗传流行病学病例对照研究方法，对常州市３５０ 个家系（１８４ 个Ⅱ型糖尿病先证家系和１６６ 个对照家系） 进行了Ⅱ型糖尿病的遗传流行病学研究。结果　病例组一级亲属总的患病率为３．４７ ％ ，与对照组的１ ．０３ ％ 相比，差异有非常显著性（χ２ ＝ １７ ．６６ ，Ｐ＜ ０ ．０１） ；无论其父母、同胞或子女，均以病例亲属的患病率显著高于对照； Ⅱ型糖尿病家族中实际发病数超过其二项分布的理论概率范围，即Ⅱ型糖尿病的分布呈明显的家族聚集性； 单因素和多因素ｌｏｇｉｓｔｉｃ 回归模型拟合也提示，家族史仍是Ⅱ型糖尿病的最主要危险因素。结论　遗传因素在Ⅱ型糖尿病发病中占有重要地位     

2型糖尿病家系危险因素Logistic回归分析

目的研究家系人群中2型糖尿病(T2DM)的危险因素，为制定干预措施提供依据。方法利用葡萄糖耐量试验(OGTT)、PCR-RFLP和免疫法排除其他类型后确定了115个2型糖尿病家系，通过问卷调查和实验室检查收集危险因素的情况，并采用Logistic回归分析方法对新老2型糖尿病患者和糖耐量低减(IGT)患者危险因素进行分析。结果糖尿病患者的多因素分析显示，T2DM患者的年龄(OR=1．043，95％CI 1．024～1．062)、高血脂史(OR=4．471。95％CI 2．149～9．303)、高血压史(OR=2．075，95％CI 1．001～4．301)和腰臀比超标(OR=1．809，95％CI 1．00～4．301)是独立的危险因素，而新诊断患者仅高血压史(OR=6．068，95％ CI 1．697～21．689)是独立的危险因素，IGT患者的年龄(OR=1．398，95％CI～1．138～1．717)是危险因素。结论在本研究人群中，高血压、年龄、中心性肥胖可能是2型糖尿病的危险因素。     

2型糖尿病与遗传和环境因素相互关系的研究

目的 研究2型糖尿病与遗传和环境因素的相互关系。方法 对江苏省1997年糖尿病流行病学调查中,筛选出的2型糖尿病患者154例及与其性别、年龄构成相近的正常人群对照130例进行单因素和多因素非条件logistic回归分析。结果 年龄、糖尿病阳性家族史、高血压史、腰臀比大、收缩压、女性巨大胎儿史及β3－肾上腺素能受体基因为异是2型糖尿病的危险因素,职业性体力劳动是其保护因素;遗传因素与肥胖、β3－肾上腺素能受体基因变异等危险因素共同存在时,糖尿病的发病危害性（OR）将明显增加。结论 2型糖尿病是遗传因素与环境因素共同作用的结果。     

家族性Ⅱ型糖尿病核心家系的遗传方式分析

目的　对 1992～ 1998年门诊及住院的家族性Ⅱ型糖尿病 (DM)患者 177个大家系及其中 2 14个核心家系的遗传方式进行研究 ,以探讨该病的遗传学特点。方法　采用家系分析、分离分析、多基因分析和阈值模式分析的方法 ,对家族性Ⅱ型DM大家系及核心家系进行研究。结果　 177个大家系的Ⅱ型DM的遗传度为 143.0 6 %± 3 .3% ,提示在这些家系中有一个显性主基因存在。 2 14个核心家系中 ,U×U婚配型的子代分离比为 0 .470 3,U×A婚配型的分离比为 0 .483 8,A×A婚配型的分离比为 0 .6 712。多基因分析和分离分析显示 ,U×A家系不符合多基因遗传和常染色体隐性(AR)遗传 ,符合常染色体显性 (AD)遗传 ,U×U家系既不符合AD遗传 ,又不符合AR遗传。结论　家族性Ⅱ型DM的遗传方式表现遗传异质性 ,在部分家系中存在AD遗传的亚型     

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.     

妊娠糖尿病家族遗传模式及遗传度的研究

摘要：目的探讨妊娠糖尿病（GDM）的遗传模式和遗传度。方法选择20个GDM先证的家庭成员,利用流行病学和遗传学方法进行询问调查,包括对家族中有糖尿病（DM）患者的一、二级亲属糖尿病发病年龄、病程发展、治疗方法及并发症等的调查。结果GDM的遗传模式与多基因遗传模式接近,GDM的遗传度为（74．88±10．16）％。结论发生GDM的孕妇本人以及家族成员身上可能存在多个DM相关基因;遗传因素对于GDM的发生有重要作用,但不是唯一的危险因素。     

Ⅱ型糖尿病家族聚集性的流行病学研究

目的探讨遗传因素与Ⅱ型糖尿病之间的关系。方法通过遗传流行病学病例对照研究方法,对常州市350个家系（184个Ⅱ型糖尿病先证家系和166个对照家系）进行了Ⅱ型糖尿病的遗传流行病学研究。结果病例和对照家系有良好的均衡可比性,病例组一级亲属总的患病率为3．47％,与对照组的1．03％相比,差异有非常显著性（X2=17．66,P＜0．005）,不论其父母、同胞或子女,均以病例亲属的患病率显著高于对照,二项分布显示,Ⅱ型糖尿病家族中实际发病数超过其二项分布的理论概率范围,即Ⅱ型糖尿病的分布呈明显的家族聚集性,单因素和多因素Logistic回归模型拟合也提示,遗传因素在Ⅱ型糖尿病发病中占有重要地位。结论遗传因素与Ⅱ型糖尿病的发生有一定的关系。     

The Role of Genealogy and Clinical Family Histories in Documenting Possible Inheritance Patterns for Diabetes Mellitus in the Pre-Insulin Era: Part 1. The Clinical Case of Josephine Imperato

Establishing the role of heredity in type 2 diabetes mellitus (type 2 DM) is challenging. While type 2 DM frequently displays a pattern of familial aggregation, many other risk factors are responsible for the clinical expression of the disease. This paper reviews a number of the early twentieth-century studies of inheritance patterns for type 2 DM and presents in detail the history of Josephine Foniciello Imperato (Maria Giuseppa Foniciello) who died from the disease in New York City at the age of 52 years on 14 November 1921, ten months before commercial insulin became available.     

我国中年知识分子高血压易患因素的流行病学研究

本文报告了对天津大学中年知识分子进行的高血压流行病学研究结果。本研究表明高血压遗传力为62%,并发现遗传方式与性别有一定联系。亲代血压状况间存在着显著性正相关,共同生活环境可能是家庭聚集性的原因之一,表明环境因素在成年后的高血压发生上仍起重要作用。
血压与QI之间存在显著性正相关,父母体型与子代QI之间却无显著性相关,并且未发现高血压家族史与QI的交互作用,这表明肥胖主要是由环境因素所致。因此通过饮食降低体重来控制血压是可行的。     

Familial resemblance of adiposity-related parameters: results from a health check-up population in Taiwan

The mechanisms of obesity is still unclear, however, genetic and environmental factors are two major possible causes of obesity. The purpose of this study was to assess the degree of familial resemblance of different obesity-related parameters in a health check-up population in Taiwan. We measured body mass index (BMI), waist-to-hip ratio (WHR) and percentage of body fat (BFAT) anthropometrics in 1724 members of 431 families participating in the MJ Health Screening program. Each family contributed four members, i.e. father, mother, son, and daughter. All the participants were free from coronary heart disease, hypertension, diabetes, dyslipidemia, and generally in good health. The degree of familial aggregation was measured by heritability that was calculated based on age-adjusted familial (parent-offspring, sibling, spouse) correlations. The maximal heritability estimates were 39, 30 and 35% for BMI, WHR and BFAT, respectively. For WHR, the correlation between spouses was not significant and the heritability appears to be predominantly due to genetic causes. Furthermore, for BMI and BFAT, the spouse correlations were 0.08 and 0.11, respectively. The heritabilities for BMI and BFAT were mostly explained by genetic factors and familial environmental factors such as dietary habits or physical activity. The familial resemblance of various obesity-related parameters was moderate in a health check-up population in Taiwan. While the heritability for WHR appears to be mainly due to genetic factors, the familial resemblance for BMI and percentage of BFAT may involve both genetic and familial environmental factors.     

Familial resemblance in eating behaviors in men and women from the Quebec Family Study

OBJECTIVE: It is commonly recognized that genetic, environmental, behavioral, and social factors are involved in the development of obesity. The family environment may play a key role in shaping children's eating behaviors. The purpose of this study was to estimate the degree of familial resemblance in eating behavioral traits (cognitive dietary restraint, disinhibition, and susceptibility to hunger). RESEARCH METHODS AND PROCEDURES: Eating behavioral traits were assessed with the Three-Factor Eating Questionnaire in 282 men and 402 women (202 families) from the Quebec Family Study. Familial resemblance for each trait (adjusted for age, sex, and BMI) was investigated using a familial correlation model. RESULTS: The pattern of familial correlation showed significant spouse correlation for the three eating behavior phenotypes, as well as significant parent-offspring and sibling correlations for disinhibition and susceptibility to hunger. According to the most parsimonious model, generalized heritability estimates (including genetic and shared familial environmental effects) reached 6%, 18%, and 28% for cognitive dietary restraint, disinhibition, and susceptibility to hunger, respectively. DISCUSSION: These results suggest that there is a significant familial component to eating behavioral traits but that the additive genetic component appears to be small, with generalized heritability estimates ranging from 6% to 28%. Thus, non-familial environmental factors and gene-gene and gene-environmental interactions seem to be the major determinants of the eating/behavioral traits.     

Disease-specific prospective family study cohorts enriched for familial risk

Most common diseases demonstrate familial aggregation; the ratio of the risk for relatives of affected people to the risk for relatives of unaffected people (the familial risk ratio)) > 1. This implies there are underlying genetic and/or environmental risk factors shared by relatives. The risk gradient across this underlying 'familial risk profile', which can be predicted from family history and measured familial risk factors, is typically strong. Under a multiplicative model, the ratio of the risk for people in the upper 25% of familial risk to the risk for those in the lower 25% (the inter-quartile risk gradient) is an order of magnitude greater than the familial risk ratio. If familial risk ratio = 2 for first-degree relatives, in terms of familial risk profile: (a) people in the upper quartile will be at more than 20 times the risk of those in the lower quartile; and (b) about 90% of disease will occur in people above the median. Historically, therefore, epidemiology has compared cases with controls dissimilar for underlying familial risk profile. Were gene-environment and gene-gene interactions to exist, environmental and genetic effects could be stronger for people with increased familial risk profile. Studies in which controls are better matched to cases for familial risk profile might be more informative, especially if both cases and controls are over-sampled for increased familial risk. Prospective family study cohort (ProF-SC) designs involving people across a range of familial risk profile provide such a resource for epidemiological, genetic, behavioural, psycho-social and health utilisation research. The prospective aspect gives credibility to risk estimates. The familial aspect allows family-based designs, matching for unmeasured factors, adjusting for underlying familial risk profile, and enhanced cohort maintenance.     

山区居民2型糖尿病危险因素的病例对照研究

目的：探讨山区农村2型糖尿病（T2 DM ）的可疑危险因素,为制定相关干预措施提供依据。方法对丽水市莲都区平原社区80例2型糖尿病新发病例按（1∶2）匹配进行病例对照研究方法,采用Logistic 回归分析。结果单因素和多因素分析结果提示：婚姻状况（离异或丧偶）（OR＝1.59）、糖尿病一级家族遗传史（OR＝2.28）、高血压史（OR＝1.55）、腹型肥胖（OR＝2.78）是糖尿病的危险因素;文化程度较高（OR＝0.74）、经常体育锻炼（OR＝0.59）、鱼虾摄入量较高（OR＝0.32）是保护因素。结论 T2DM是遗传因素与环境因素共同作用的结果,山区农村糖尿病防治应采取健康教育与社会预防,控制饮食,长期有计划且适当的体育锻炼等综合措施。     

Diabetes mellitus in children in Lomé (Togo)

AIM: Describe clinical aspects and outcome of children with diabetes mellitus in Lomé (Togo). METHODS: This work concern eighteen children consecutively admitted between 1997 and 2004 for diabetes mellitus. Diagnosis of type 2 diabetes mellitus (T2DM) were done on the presentation of at least one of T2DM risk factors: obesity, familial history of T2DM, acanthosis nigricans, polycystic ovary syndrome, dislipidemia, high blood pressure. RESULTS: Twelve children presented type 1 diabetes mellitus (T1DM), 5 T2DM and one, corticosteroids induced diabetes. At least one of the first degree parent suffered from diabetes in 4 of the 5 children with T2DM and 4 of the 12 patients with T1DM. Most patients (with T1DM or T2DM) presented polyuria, polydypsia and ketonuria at admission. All patients with T2DM were obese and had lifestyles characterised by high fat intake, sedentary attitudes, and physical inactivity. The corticosteroid induced diabetes cessed when corticosteroid stopped. The other patients were successfully treated with insulin (T1DM) or insulin then exercises and diets (T2DM). CONCLUSION: Clinical presentation of diabetes mellitus is now characterised in Togo by the emergence of T2DM which principal risks factors are obesity and familial history of T2DM.     

Influence of heredity on dietary restraint, disinhibition, and perceived hunger in humans

OBJECTIVE: Dietary restraint, disinhibition, and perceived hunger have been shown to affect food intake and body weight and are thought to be risk factors for eating disorders, but little is known about their origins. We investigated the influence of heredity, shared (familial) environment, and individual environment on dietary restraint disinhibition, perceived hunger and their relation to body size and food intake. METHODS: Scores on the Three Factor Eating Questionnaire and the Restraint Scale in addition to height, weight, body mass index, and 7-d diary reported nutrient intakes were obtained from 39 identical, 60 fraternal same-sex, and 50 fraternal opposite-sex adult twin pairs who were living independently. Linear structural modeling was applied to investigate the nature and degree of genetic and environmental influences. RESULTS: Analysis showed significant genetic and individual environmental, but not shared (familial) environmental, influences on cognitive restraint, perceived hunger, and Restraint Scale scores, with genes accounting for 44%, 24%, and 58% of the variance, respectively. In contrast, disinhibition was found to be significantly influenced by the shared (familial) environment, accounting for 40% of the variance. Further analysis showed that cognitive restraint and perceived hunger heritabilities could not be accounted for by significant heritabilities of body weight, height, or body mass index. In contrast, the heritability of Restraint Scale scores was found to be related to body size. Cognitive restraint was negatively correlated with nutrient intake, and differences in cognitive restraint were found to be related to differences in the body sizes of identical twin pairs. CONCLUSIONS: Dietary restraint appears to be another component in a package of genetically determined physiologic, sociocultural, and psychological processes that regulate energy balance, whereas dietary disinhibition may be the intermediary between upbringing and the development of overweight and/or eating disorders.