Progress in next-generation sequencing research of non-syndromic oral clefts / 中华流行病学杂志

Non-syndromic oral clefts (NSOC) are among the most common birth defects. The prevalence of NSOC is 1.13-1.30 per 1 000 live births in China, which is higher than those in other major ethnic groups. The etiology of NSOC is complex and heterogeneous, which involves both genetic and environmental risk factors. Although genome-wide association studies have identified a number of risk loci, these loci can only account for a small proportion of the heritability of NSOC. The next-generation sequencing research provides new ideas for further exploring the genetic risk factors of NSOC. This paper summaries the progress in the next-generation sequencing research of NSOC.

Fujian Tulou Family Cohort Study: study design and characteristics of participants and pedigrees in baseline investigation / 中华流行病学杂志

Objective: To describe the study design, the characteristics of participants as well as the pedigrees included in the baseline survey of Fujian Tulou Family Cohort Study. Methods: Fujian Tulou Family Cohort Study was a prospective open cohort study with a biological sample bank. A baseline survey was conducted in Tulou areas of Nanjing county in Fujian province from 2015 to 2018, including questionnaire survey, physical and biochemical indicators examinations, and blood sample collection in adults aged ≥18 years. In addition, family relationship of the participants was also recorded. The pedigree information of the juveniles under 18 years old were also collected. Results: The baseline survey included 2 727 individuals in two clans, of whom 2 373 (87.0%) were adults, and 2 126 participants completed questionnaires, physical examinations and biochemical tests. The average age of the 2 126 participants was (57.9±13.3) years, with 39.4% being males. The current smoking rates in male and female participants were 41.2% and 2.1%, respectively. The corresponding rates of current alcohol consumption were 19.0% and 2.6%. For common chronic diseases, the prevalence rates were 51.3% for hypertension, 9.7% for diabetes and 26.7% for hyperlipemia according to the self-reported disease diagnoses, health examination results and biochemical examination results in class Ⅱ or Ⅲ hospitals. Based on the family relationship information and genealogical data, 710 pedigrees were finally identified, consisting of 5 087 family members. The numbers of five, four, three, and two generations pedigrees were 3, 88, 238 and 381, respectively. The pairs of the first to the fifth degree relatives were 12 039, 2 662, 1 511, 202 and 31, respectively. Conclusion: The establishment of Fujian Tulou Family Cohort provides valuable resources for exploring the genetic risk factors, environmental risk factors and gene-environment interactions contributing to the risk of common chronic diseases.

Association between gestational weight gain and adverse pregnancy outcomes: a prospective study / 中华流行病学杂志

Objective: To explore the association between gestational weight gain (GWG) and adverse pregnancy outcomes. Methods: A prospective study was conducted among 1 220 healthy singleton pregnant women in the first trimester of pregnancy, from Chengdu city, Sichuan province. Pre-gestational body mass and other basic information were collected through a set of questionnaires. Weight at the last week before delivery was measured and GWG was classified by IOM criteria (2009). Related information on pregnancy outcomes was collected after delivery, through the hospital information system. Multiple non-conditional logistic regression models were used to test the association between GWG and adverse pregnancy outcomes. Results: In total, data on 1 045 pregnant women were analyzed. Compared with adequate GWG, excessive GWG was associated with the increased risks of cord entanglement and large for gestational age (OR=1.641, 95%CI: 1.197-2.252; OR=1.678, 95%CI: 0.132-2.488), respectively. Additionally, when compared with the adequate GWG, insufficient GWG was associated with the increased risk of preterm delivery (OR=3.189, 95%CI: 1.604-6.341). Conclusions: Both excessive and insufficient GWG appeared associated with the pregnancy outcomes. Weight monitoring should be strengthened for pregnant women to reduce related risks on adverse pregnancy outcomes.