双生子骨龄遗传度的性别差异分析

[目的]探讨双生子骨龄遗传度的性别差异。[方法]2002～2003年在青岛市进行双生子募集工作，经知情同意，调查190对双生子。应用微卫星DNA基因扫描和分型技术，进行卵型鉴定，通过拍摄手腕骨X片，按照《中国人手腕骨发育标准CHN法》评价骨龄，采用经典的Holzinger公式估算遗传度。[结果]骨龄遗传度男性双生子为0．813，女性双生子为0．682；幼年期男性双生子0．836，明显高于同期女性双生子(0．322)；童年期男、女性双生子分别为0．658、0．760；青春期达到最高，男、女性双生子分别为0．941、0．817。[结论]遗传因素对男性骨发育的影响高于女性。遗传因素对男、女性骨发育的影响随年龄的增长而逐步体现，青春期达到最高，青春期神经内分泌变化在该过程发挥重要作用。     

女性青春期血清游离胰岛素样生长因子-1水平变化的双生子研究

目的探讨女性青春期血清游离胰岛素样生长因子1(IGF1)的变化趋势,估计各发育阶段血清游离IGF1遗传度。方法6～18岁健康女性双生子427人同卵双生子132对,同性别异卵双生子48对,异性别双生子中的女生67人。按Tanner标准进行青春发育分期,免疫放射分析法(IRMA)测定空腹血清游离IGF1浓度。结果女性青春期血清游离IGF1浓度随年龄增长和青春期进程先增高而后降低,7～9岁、10～12岁增加较快,高峰年龄在12岁(B2期);同卵双生子组内相关系数远高于异卵双生子;乳房发育前、乳房发育后、初潮前、初潮后血清游离IGF1浓度的遗传度分别为053、085、048、083。结论12岁之前血清游离IGF1浓度的快速增长与女性青春期生长突增和早期的乳房发育有关;性发育及调控青春期发育的内分泌激素同时受遗传和环境因素的影响,遗传因素对女性青春期游离IGF1水平的控制随青春期进展而逐渐显现。     

汉族双生子儿童体格发育指标的遗传效应

目的 分析儿童体格发育指标的遗传度及其影响因素。方法 于2004年6至10月测量116对6-12岁同性别汉族双生子（同卵双生子67对、异卵双生子49对）的身高、体重、坐高、胸围、肩宽和骨盆宽,计算体重指数,调整年龄后用组内相关系数法计算各指标遗传度。结果 各指标组内相关系数均为同卵双生子大于异卵双生子;男女性身高的遗传度分别为0．89和0．87,体重的遗传度分别为0．88和0．74,体重指数的遗传度分别为0．73和0．72,坐高的遗传度分别为0．87和0．86,胸围的遗传度分别为0．88和0．62,肩宽的遗传度分别为0．78和0．56,骨盆宽的遗传度分别为0．73和0．59,男女性的身高、坐高和体重指数的遗传度差异无统计学意义,其余各指标的遗传度均男性高于女性。结论 遗传因素对儿童的体格发育特征起主要作用,体重、胸围、肩宽和骨盆宽的遗传度存在性别差异,女性比男性更易受环境因素影响。     

遗传与环境因素对双生姊妹性激素影响

目的探讨女性青春期发育前后血清雌二醇（E2）和睾酮（T）的变化趋势．评价遗传与环境因素相对效应。方法以学校登记为基础募集6～18岁女性双生子180对，其中同卵双生子（MZ）132对，异卵双生子（DZ）48对，按Tanner标准进行青春发育分期，放免法测定空腹血清雌二醇（E2）和睾酮（T）浓度。结果血清E2和T浓度随青春期进程而增高，Tanner Ⅳ期达高峰．Tanner Ⅴ期略有下降；遗传效应分析显示。双生子血清E2和T偶内平均差、偶内方差为MZ〈DZ（P〈0．05）．组内相关系数为MZ〉DZ；表型方差中归因于加性遗传因素的部分分别为40％（E2）和47％（T）；分期估计遗传度显示E2和T均为已来潮组遗传度高于乳房未发育组和未来潮组。结论青春期女性血清E2和T同时受遗传和环境因素的影响。月经来潮后遗传因素的作用显著。     

体脂及瘦素对女性青春期性发育调控的双生子研究

目的探讨青春期女性体脂及瘦素(Leptin)的变化趋势，估计各发育阶段血清Leptim浓度遗传度。方法选取6～18岁健康女性双生子428人，其中单卵双生子(MZ)132对，同性别二卵双生子(DZ-SS)48对，异性别双生子(DZ-OS)中的女生68人。进行体格发育测量、性发育检查，推算体脂含量和BMI指数，按Farmer标准进行青春发育分期，用免疫放射分析法(IRMA)测定空腹血清Leptin浓度。结果青春期女生体脂含量、体脂率、BMI指数，血清Lepin浓度均有随年龄增长和青春期进程而增高的趋势。11～13岁Leptin浓度有明显突增；已有月经初潮的女生血清Leptin浓度显著高于月经初潮前的女生；单卵双生子组内相关系数远高于二卵双生子；乳房发育前、初潮前、初潮后血清Leptin浓度的遗传度分别为0．56，0．61，0．50。结论11～13岁女生Leptin浓度突增，可能对即将到来的月经初潮起预示作用；性发育及调控青春期发育的内分泌激素同时受遗传和环境因素的影响，女性青春期瘦素水平的遗传度可能呈“V”字型变化。     

青岛市6～18岁女性双生子血清硫酸脱氢表雄酮水平的研究

目的探讨青春期女性血清硫酸脱氢表雄酮(DHEAS)的变化趋势,估计遗传与环境因素的相对效应。方法以学校登记为基础募集青岛市6~18岁女性双生子180对,其中同卵双生子(MZ)132对,异卵双生子(DZ)48对,按Tanner标准进行青春发育分期,放免法测定空腹血清DHEAS浓度。结果青春期女生血清DHEAS浓度随年龄增长和青春期进程而增高,Tanner IV期达高峰,Tanner V期略有下降;遗传效应分析显示血清DHEAS浓度偶内平均差、偶内方差为MZDZ;遗传度为0.65,分期估计遗传度分别为乳房未发育组0.92,乳房发育未来潮组0.73,已潮组0.67。结论青春期女性血清DHEAS受遗传因素的控制较强,尤其乳房发育前肾上腺功能初现期。提示在与肾上腺功能初现有关的内分泌失调性疾病的发病中遗传因素可能起重要的作用。     

青春期女性血清瘦素及可溶性瘦素受体的双生子研究

目的探讨青春期女性血清瘦素及可溶性瘦素受体的变化趋势,估计遗传与环境因素的相对效应。方法以学校登记为基础募集6～18岁女性双生子180对,其中同卵双生子132对、异卵双生子48对,按Tanner标准进行青春发育分期,测定空腹血清瘦素和可溶性瘦素受体浓度。结果青春期女性血清瘦素浓度随青春期进展而显著增高,可溶性瘦素受体则呈显著下降趋势。二者的综合作用使得游离瘦素指数随青春期进展持续增高,7～9岁和12—14岁增高尤为显著,分别为10．1～32．3和41．8～82．1;瘦素和游离瘦素指数与各体格指标呈显著正相关(r值为0．54～0．76),而可溶性瘦素受体则与各指标呈显著负相关(r值为-0．23～-0.42);各指标组内相关系数均为同卵双生子大于异卵双生子,而偶内差和相似度系数则异卵双生子大于同卵双生子,瘦素、可溶性瘦素受体和游离瘦素指数的遗传度分别为0．37、0.84和0.46。结论7～9岁女孩游离瘦素指数的快速增长可能对青春期的启动起促进作用,而12—14岁的突增可能对即将到来的月经初潮起预示作用。青春期女孩血清游离瘦素指数同时受遗传与环境因素的影响,瘦素受环境因素的影响较大,可溶性瘦素受体则受遗传因素的影响较强。     

不同发育期双生子皮褶厚度及体成分分析

目的 分析遗传与环境因素不同发育期双生子皮褶厚度及体成分的作用特点.方法 测量376对6～18岁同性别双生子(同卵245对,异卵131对)肱三头肌、肩胛下皮褶厚度,用长岭和Brozek公式估算体成分;用Mx软件拟合最佳模型,计算各指标遗传与环境方差组分,分析年龄、性别和不同发育期的作用.结果 全部双生子分性别校正年龄后,各指标遗传度在0.59～0.87之间;不同发育期各指标遗传度存在差异,肱三头肌皮褶、肩胛下皮褶、2处皮褶厚度之和、体脂百分比的遗传度男生在青春期前期最低,分别为0.55,0.62,0.53,0.51,女生在青春期晚期最低,分别为0.53,0.43,0.24,0.40;男、女瘦体重遗传度随青春期发育进程呈增加趋势.结论 遗传因素对儿童青少年皮褶厚度和体成分起主要作用,但年龄、性别和不同发育阶段对其也有一定影响.     

中国9省(市)成年双生子体重指数遗传度估计

目的 探讨中国9省(市)成年双生子BMI遗传度情况。方法 收集中国双生子登记系统9省(市)成年双生子信息, 采用结构方程模型计算11 122对双生子BMI遗传度。结果研究对象中同卵双生子6 226对, 异卵双生子4 896对, 年龄范围25～85(39.0±10.8)岁。按地区分层, 男性BMI遗传度最高的是天津, 为67.8%(95%CI:50.1%～85.8%), 最低的是浙江, 为42.1%(95%CI:27.2%～60.9%);女性最高的是四川, 为56.2%(95%CI:47.5%～70.0%), 最低的是黑龙江, 为11.2%(95%CI:0～31.7%)。按性别分层, 相同地区的男性BMI遗传度均高于女性, 其中黑龙江男性和女性的遗传度差异最大, 分别为55.3%(95%CI:35.5%～80.0%)和11.2%(95%CI:0～31.7%), 而四川男性和女性的遗传度差异最小, 分别为61.5%(95%CI:40.7%～86.4%)和56.2%(95%CI:47.5%～70.0%)。结论 中国不同地区和不同性别人群BMI遗传度存在差别。     

遗传因素对体型指征影响程度的双生子研究

目的利用广汉市募集的成年双生子数据,探讨遗传因素对身高、体重、体重指数(BMI)等体型指征的影响程度。方法选择广汉市自愿参加双生子队列观察的253对18岁及以上双生子为研究对象,并以150对非双生子为对照,通过问卷调查、体格检查、卵型鉴定等方法收集体型指征(身高、体重、体重指数)信息,形成数据库,运用组内相关系数法计算遗传度。结果异卵双生子的身高、体重、体重指数对内表型方差均大于同卵双生子,而对间表型方差差异无统计学意义;同卵双生子组内相关系数高于异卵双生子;身高、体重、体重指数遗传度分别为0.87、0.89、0.71;男性身高、体重、体重指数平均遗传度分别为0.68、0.71、0.67;女性分别为0.67、0.64、0.76。结论不同性别间各体型指征遗传度不同,遗传因素对身高、体重、体重指数的影响均较大,但环境因素的作用也不可忽视,可通过后天对环境因素的调整,在遗传潜力内发育并维持体型特征。     

Genetic Contribution to Suicidal Behaviors and Associated Risk Factors among Adolescents in the U.S.

This paper examines genetic contribution to suicidal behaviors and other risk factors associated with suicidal behavior among adolescents in the U.S. Using adolescent twin data in the National Longitudinal Study of Adolescent Health (N=1448), we compared concordance in suicidal ideation and attempt among monozygotic (MZ) and dizygotic (DZ) twins. Heritability of risk factors for suicidal behaviors also was examined using Pearson correlation and mixed-model analyses. A trend of higher concordance in suicidal ideation and attempt was found among MZ than DZ twins but the difference was not statistically significant by the stringent test of bootstrapping analysis. Evidence of heritability was found for several suicide risk factors. The percentage of variance explained by heritability was larger among female twins for depression, aggression, and quantity of cigarettes smoked in comparison to heritability estimates for male twins. However, estimated heritability was larger among male than female twins for alcohol use and binge drinking. Heritability influence was negligible among both sexes for other drug use. Risk factors for suicidal behaviors among adolescents may be heritable. Gender differences found in the heritability of some suicide risk factors suggest these genetic contributions are gender specific. Future research examining potential interactions between expression of genetic influence and particular environmental contexts may enhance prevention and intervention efforts.     

青岛市成人双生子体型指征的遗传度研究

目的探讨遗传因素对体质指数(BMI)和腰臀围比值(WHR)等体型指征的影响程度。方法青岛地区自愿参加本研究的496对24周岁及以上的双生子。在卵型鉴定的基础上。应用Mx软件构建结构方程模型分析遗传度。结果估计体质指数的遗传度为76％，男、女性分别为33％，74％；腰臀围比值的遗传度为62％，男、女性分别为0．12％，74％。结论在体型指征的相关指标中，BMI和WHR均受遗传因素影响较大。其中，女性的BMI和WHR受遗传因素的影响可能大于环境因素；男性体质指数受环境因素影响大于遗传因素，腰臀围比值则可能不受遗传因素影响。     

Parental divorce and disordered eating: an investigation of a gene-environment interaction

Objective:

We investigated gene‐environment interactions (GxE) for associations between parental divorce and disordered eating (DE).

Method:

Participants were 1,810 female twins from the Michigan State University Twin Registry and the Minnesota Twin Family Study. The Minnesota Eating Behaviors Survey was used to assess DE. We tested for GxE by comparing the heritability of DE in twins from divorced versus intact families. It was hypothesized that divorce would moderate the heritability of DE, in that heritability would be higher in twins from divorced than twins from intact families.

Results:

As expected, the heritability of body dissatisfaction was significantly higher in twins from divorced than intact families. However, genetic influences were equal in twins from divorced and intact families for all other forms of DE.

Discussion:

Although divorce did not moderate heritability of most DE symptoms, future research should replicate GxEs for body dissatisfaction and identify factors underlying this unique relationship. © 2010 by Wiley Periodicals, Inc. (Int J Eat Disord 2010)     

遗传与环境因素对女性青春期性征发育的影响

目的探讨遗传与环境因素对女性青春期性征发育的影响,为进一步深入研究女性青春期发育提供依据。方法以学校登记为基础,募集6~18岁女性双生子180对,其中单卵双生(MZ)132对,二卵双生(DZ)48对,按Tanner标准进行青春发育分期,询问有无月经初潮及月经初潮年龄。结果乳房开始发育的年龄为9~12岁,阴毛开始发育的年龄集中在9~13岁,月经初潮年龄多集中在11~13岁。月经初潮、性征发育一致率均为MZ>DZ,月经初潮的遗传指数为0.71,乳房和阴毛发育的遗传指数分别为0.34,0.45。月经初潮年龄的组内相关系数MZ>DZ(P<0.001),偶内均方MZ相似文献   

Genetic heritability and common environmental components of resting and stressed blood pressures, lipids, and body mass index in Utah pedigrees and twins

The relative contributions of genes and shared environment to cardiovascular risk factors were studied in twins and pedigrees in 1983-1985. Sitting, standing, isometric hand grip, bicycling, and mentally stressed (serial subtraction) blood pressures were obtained from 146 male monozygous twins, 162 male dizygous twins, and 1,102 healthy adults in 67 Utah pedigrees. Fasting total plasma cholesterol, triglycerides, high density lipoprotein cholesterol (HDL), and body mass index were also measured. Heritability was estimated before and after adjusting for 12 environmental variables (measures of socioeconomic status; personality types; exercise levels; use of tobacco, alcohol, coffee, etc.) by using age-adjusted twin intraclass correlations. These heritabilities were compared with those obtained from a variance components analysis of the pedigree data separating genetic and common household effects. Sitting and standing blood pressure heritability estimates were much higher from twin than from pedigree data (39-63% in twins vs. 16-22% in pedigrees), as were those for cholesterol and triglycerides (65 and 75% from twins vs. 42 and 37% from pedigrees) and body mass index (51 vs. 21%). Estimates were similar for heritability of HDL cholesterol (51 vs. 45%). Most of the stressed blood pressure heritabilities were similar to sitting blood pressure estimates. No common household effect (except for adjusted HDL cholesterol (24%), p less than 0.01) was statistically significant for the lipids, blood pressures, or body mass index. Environmental variables correlated much better in monozygous twins and spouses than in dizygous twins, brothers, or sisters. Spouse correlations for lipids, blood pressures, and body mass index were low, with a maximum of 0.12 (p less than 0.05) for HDL cholesterol. We conclude that genes contribute much more than shared environment to the well-recognized familial correlation of blood pressures, lipids, and body mass index.     

Heritability of symptom domains in otitis media: a longitudinal study of 1,373 twin pairs

Research on risk factors and pathogenesis of otitis media has emphasized the environment, but previous twin studies suggest a strong genetic component. In those studies, no attempt was made to differentiate the role of initial acute infection from the chronic airway blockage that frequently accompanies persistent effusion. The authors estimated genetic and environmental determination of both of these aspects of otitis media histories at three time points. A large and representative subset of a total population cohort of all twins born in England and Wales in 1994, was studied prospectively at ages 2, 3, and 4 years (monozygotic, n = 715; dizygotic, n = 658). For the total symptom score, the estimated heritabilities at ages 2, 3, and 4 years were 0.49, 0.66, and 0.71, respectively. All correlations for the total score found in monozygotic twins were about 0.9, but correlations were lower for dizygotic twins (p < 0.65). Shared environmental influences declined in importance over time (0.41, 0.22, and 0.16 at ages 2, 3, and 4 years, respectively). No gender differences were found in parameter estimates. Symptoms of acute infections showed lower heritability (0.57 on average) and higher shared environment (0.18) than did chronic airway blockage (0.72 heritability and 0.10 shared environment). The strong genetic component, which this study confirms, is not unitary but distributes differently across the phenotypic aspects of otitis media and probably across pathogenetic stage.     

Heritability of Serum Apolipoprotein Concentrations in Middle-Aged Japanese Twins

Background

Studies of the genetic and environmental influences on apolipoproteins have been conducted, but few have used data from Japanese twins. The aim of this study was to quantify and compare the genetic and environmental causes of individual differences in the serum concentrations of apolipoproteins in Japanese middle-aged twins.

Methods

Apo A-I, apo A-II, apo B, apo C-II, apo C-III, and apo E were studied. A total of 142 twin pairs, aged 45 through 65 years, were enrolled: 85 monozygotic pairs (59 male, 26 female) and 57 same-sexed dizygotic pairs (43 male, 14 female). The intraclass correlation coefficient and structural equation modeling were used to estimate the best-fitting model and heritability.

Results

Sixteen percent to 75% of the total variances of apo A-I, apo C-II, and apo C-III were attributable to genetic influence; apo A-I and apo C-II were influenced by dominant genetic factors. Twenty percent to 73% of the total variances of apo A-II, apo B, and apo E were attributable to additive genetic influence; apo B was clearly influenced by common environmental factors. Furthermore, the heritability of all apolipoproteins was higher among females than among males.

Conclusions

Genetic factors, including additive genetic effects (A) and dominant effects (D), influence apolipoprotein levels. However, a common environment does not influence the variances of these apolipoproteins, with the exception of apo B. Furthermore, the heritability of apolipoprotein phenotypes differs by sex.Key words: apolipoprotein, heritability, adult twins     

双生子人群的代谢综合征相关指标的遗传度分析

目的 探讨双生子人群血压水平、体质指数(BMl)、空腹血糖水平和各项血脂指标(总胆固醇、甘油三酯和高密度脂蛋白胆固醇)的遗传度。方法 对山东威海和浙江丽水双生子登记系统注册的双生子，在卵性鉴定的基础上，以组内相关系数法研究代谢综合征相关指标的遗传度。结果 本次调查双生子共260对，甘油三酯单卵和异卵双胞胎对内方差齐性检验差异无显著性，血糖、总胆固醇、高密度脂蛋白胆固醇、收缩压、舒张压、体质指数异卵双生子对内变异大于同卵双生子。估计遗传度h^2分别为，血糖：0．47，总胆固醇：0．34，甘油三酯：0．17，高密度脂蛋白胆固醇：0．26，收缩压：0．78，舒张压：0．67，体质指数：0．64。调整年龄和性别后，遗传度h^2分别是，血糖：0．56，总胆固醇：0．37，甘油三酯：0．18，高密度脂蛋白胆固醇：0．24，收缩压：0．96，舒张压：0．76，体质指数：0．88。结论 在代谢综合征相关性状中，血糖、收缩压、舒张压、体质指数可能受遗传因素的影响大于环境因素，而总胆固醇、甘油三酯、高密度蛋白胆固醇受遗传影响相对较小。     

Effects of selective return on estimates of heritability for body mass index in the National Heart, Lung, and Blood Institute Twin Study.

In the National Heart, Lung, and Blood Institute Twin Study, body mass index (BMI) was studied at military induction and at three subsequent examinations spanning five decades in a cohort of white, male World War II veterans. At military induction (1940s) and again at the first clinical examination of this study (1969-1973), there was close agreement of three commonly used estimates of heritability (range 0.72 to 0.80), and no evidence of a difference in total variance of BMI between the zygosities. However, at the last two examinations (1980s), the total variance in dizygotic (DZ) twins was significantly greater than that of monozygotic (MZ) twins (P less than 0.01) and these same heritability estimates varied widely. The among-pair estimate of heritability fell to unrealistic negative values, the within-pair estimate rose to values of 1.0 or greater, and the intraclass correlation coefficient estimate was slightly lower than in the entire cohort at baseline. The cause of the unequal zygosity total variance appears to have been nonparticipation at later examinations of MZ twins with extreme values of BMI, with no evidence of a similar selection process influencing DZ twins. This selection process biased the three estimates of heritability, making it difficult to determine which estimate is the most appropriate. Despite these biases, it remains clear that genetic factors contribute substantially to BMI in this population.     

青春前期双生子血清骨碱性磷酸酶活性测定及遗传度分析

目的 通过对青春前期双生子血清骨碱性磷酸酶(bone alkaline phosphatase,BALP)活性的测定,分析血清BALP活性的遗传度,评价特定人群钙的缺乏状况和机体对钙的需求情况.方法 调查9～16岁双生子73对,利用骨源性碱性磷酸酶试剂盒进行血清BALP活性测定.在DNA卵型鉴定基础上.以组内相关系数法及Christian遗传度计算公式分析血清BALP活性的遗传度. 结果 经卵型鉴定,73对双生子中同卵双生子34对,异卵双生子39对;BALP>250 U/L的人占43.1%,BALP为200～250 U/L占54.8%,BALP≤200 U/L占2.1%;男性中钙摄入不足者占48.4%,女性中占39.0%;各年龄组钙的摄入能满足机体需求的均不到10.0%;尤其是10～13岁年龄段儿童,明确缺钙者所占比例均>45.0%;不同性别、不同年龄间BALP均值差异无统计学意义,性别t=1.633,P=0.105;年龄F=0.323,P=0.924.经过遗传度分析,单卵双生(MZ)对内方差=191.54,对间方差=1462.22,相关系数=0.77;双卵双生(DZ)对内方差=491.03,对间方差=1475.57,相关系数=0.50;BALP活性的遗传度为0.54. 结论 青春前期的双生子普遍存在缺钙问题;BALP的活性遗传因素占54%,环境因素占46%.