The Chinese National Twin Registry (CNTR), established in 2001, is the first and largest population-based twin registry in China. Based on the CNTR, a new twin cohort was recruited from 2011 to study the relationship between environmental risk factors and chronic diseases. So far, 33,874 twin pairs from nine provinces have been recruited, in which hundreds of disease-discordant twin pairs and even thousands of exposure-discordant twin pairs were found in this cohort. The updates of the CNTR will be introduced in detail in this article.

Background: Though multiple policies have been implemented, the cigarette control in China is still facing a great challenge. At the same time, alcohol drinking has increasingly become a public health problem. Considering cigarette smoking and alcohol drinking often co-occur, a few studies tested the covariance of these phenotypes. However, the genetic and environmental correlation between them among Chinese population has not been determined. The main aim of this study is to fill this gap. Methods: From the Chinese National Twin Registry, we obtained the data on cigarette smoking and alcohol drinking behaviors. The ordinal bivariate genetic analysis was performed to fit the categorical variables. After identifying the best decomposition among the Cholesky, common, and independent pathway model, we established the most parsimonious submodel. Results: The correlation between current tobacco and alcohol use could be explained by Cholesky model. The shared environmental variances for both phenotypes were dropped to construct the most parsimonious submodel. Furthermore, the most parsimonious submodel showed a moderate correlation (0.32, 95%CI = 0.17 – 0.46) between the genetic components and a negligible non-shared environmental correlation. Conclusion: As the first bivariate genetic analysis on current tobacco smoking and current alcohol drinking in China, this study suggested a common genetic vulnerability to tobacco and alcohol use in male twins. Further studies should be carried out to track the pertinent genes that are related to the comorbidity of smoking and drinking in Chinese population. Another urgent need is to recognize the behavior-specific environmental risk factors.

Twins, due to their unique genetic and environmental relationships, have provided crucial insight in our understanding of genetic contributions to numerous etiologically complex disorders in developed countries. As the leading cause of death and adult disability, cardio- and cerebrovascular diseases are common in China, followed by cancer. Obesity and psychological disorders are increasing. The overall goal of this program is to develop a resource for genetic epidemiologic studies of these and other common and complex diseases in China. Our initial focus is to delineate the genetic and environmental determinants of vascular diseases in general, coronary artery disease (CAD) and stroke in particular. To date, we have over 4500 twin pairs registered and about 700 twin pairs studied for various metabolic traits (e.g., lipids, glucose, insulin, etc.). The long-term plan of this program is to (1) establish a population-based twin registry from several selected regions in China for future studies of specific common complex diseases; (2) conduct detailed phenotyping for clinical and intermediate traits related to cardiovascular diseases; (3) expand studies of twins to twin families by including their parents, siblings, and offspring for genetic linkage and association studies; and (4) follow up twins in the registry longitudinally. The goals of the program are health education and promotion of healthy behavior, early identification of cases to provide timely medical attention, and the evaluation of long-term effects of identified risk factors. We want to develop collaborations with investigators who have expertise in cancer, psychological disorders, and other disease areas.

This study reports on the determination of zygosity in Chinese adult twins by simple questionnaire and physical features comparison. The subjects were 511 twin pairs from two cities and their town areas, consisting of 371 monozygotic (MZ) and 140 same-sex dizygotic (DZ) pairs, identified by ABO blood group and multiplex polymerase chain reaction of several polymorphic short tandem repeat markers. The twins themselves responded to 8 questionnaire items, 4 items on twin similarity, and 4 items on the frequency of mistaking one twin for another by parents, relatives, teachers and strangers when they were 6 to 13 years old. Research assistants responded to 20 items regarding twins' physical features at the moment of interview. A parsimonious model established using stepwise logistic regression analysis of the 28 items showed that the total accuracy of zygosity diagnosis was 90.1%. The accuracy was 89.2% when using only the items dealing with the confusion of twins and 85.4% using only similarity. In the questionnaire, ‘facial appearance’, ‘mistaken by teachers’ and ‘mistaken by strangers’ had stronger discriminating power between MZ and DZ twins. Two physical features — ‘eyelid’ and ‘middigital hair’ — were informative to some extent. There was no statistically significant sex and area difference in the validity of such questionnaire and physical features comparison-based classification. In conclusion, questionnaire-based zygosity assessment in this Chinese adult twin sample could still be regarded as a valid and valuable classification method. Physical features comparison, however, could only provide limited information for zygosity determination.

The Chinese National Twin Registry is the first and largest population-based twin registry in China. It was established in 2001. The primary goal of this program is the establishment of a population-based twin registry of 45,000 twin pairs from several regions representing north, south, urban, and rural areas in China. A secondary goal is to study genetic contributions to complex diseases, and to test associations of candidate genes with related phenotypes. Seven thousand, four hundred and twenty-three twin pairs have been enrolled in the registry, in which 1613 pairs have undergone detailed questionnaire assessments and physical examination. Based on the baseline registry, a twin cohort was established. Continued research includes studies on intermediate phenotypes of cardiovascular and cerebrovascular diseases and psychological studies in adult twins, studies on growth and development in adolescent twins, and so forth. The current state and future plans for the Chinese National Twin Registry will be discussed in this article.

This study reports on the inter- and intrarater reliability of physical features observation. Study subjects were 176 Chinese adult persons, consisting of 89 males and 87 females. Three trained research assistants responded simultaneously and respectively to 12 items regarding the subject's physical features including ‘hair’, ‘Mongoloid folds’, left and right ‘ear lobes’, ‘earwax’, ‘nostril shape’, ‘tongue rolling’, left and right ‘hitchhiker's thumb’, ‘mid-digital hair’ and left and right ‘simian crease’ at the moment of interview. And 14 days later, these subjects received the same observation once again. The results showed that the inter- and intra-observer agreements of ‘hair’, ‘earwax’, ‘tongue rolling’, ‘mid-digital hair’ and ‘simian crease’ were almost perfect with most kappa (κ) coefficients ≥ .80, while ‘Mongoloid fold’ and ‘nostril shape’ showed poor inter-observer agreement and ‘nostril shape’ showed poor intra-observer agreement (κ < .40). Two other physical features, ‘hitchhiker's thumb’ and ‘ear lobes’ showed moderate inter-observer agreement and three features, ‘hitchhiker's thumb’, ‘ear lobes’ and ‘Mongoloid fold’, showed moderate intra-observer agreement (.40≤ κ <.80). In conclusion, this study suggests that as far as reliability is concerned, the five features which were ‘hair’, ‘earwax’, ‘tongue rolling’, ‘mid-digital hair’ and ‘simian crease’ could be considered in zygosity determination of Chinese adult twins, while the two features, ‘Mongoloid fold’ and ‘nostril shape’, should be abandoned.

We aimed to synthesise evidence to assess the effect and safety of NaFeEDTA on Hb and serum ferritin in Fe-deficient populations. We performed a systematic review, identifying potential studies by searching the electronic databases of Medline, Cochrane Library, Embase, WHO Library and China National Knowledge Infrastructure. We also hand-searched relevant conference proceedings and reference lists. Finally, we contacted experts in the field. The selection criteria included randomised or quasi-randomised controlled trials of NaFeEDTA compared with placebo. Hb, serum ferritin and adverse effects were outcomes of interest. Inclusion decisions, quality assessment and data extraction were performed by two reviewers independently. Seven studies met the inclusion criteria. All included studies assessed the effect of NaFeEDTA on Hb concentration, four studies assessed the effect on serum ferritin concentration, and one study on serum Zn concentration. After the intervention, Hb concentration and serum ferritin concentration were both higher in the NaFeEDTA group compared with the control group. For Hb, data from six studies could be pooled and the pooled estimate (weighted mean difference) was 8·56 (95 % CI 2·21, 14·90) g/l (P = 0·008). For serum ferritin, data from four studies could be pooled and the pooled difference was 1·58 (95 % CI 1·20, 2·09) μg/l (P < 0·001). Subgroup analysis indicated that a lower baseline Hb level was associated with a greater increase in Hb concentration. No significant difference in serum Zn concentration was found. We concluded that NaFeEDTA increased both Hb concentration and serum ferritin concentration substantially in Fe-deficient populations, and could be an effective Fe preparation to combat Fe deficiency.