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Objective:To detect the genes of common genetic diseases in newborns with the high-throughput sequencing technology based on target gene capture, to study the incidence rate of such diseases, the carrying rate and variant types of pathogenic mutations related to such diseases, and to explore the application value of the high-throughput sequencing technology in screening genetic diseases of newborns.Methods:The heel blood of 1 793 newborns born in Guangdong province from June 2019 to April 2020 were collected, and the exon regions of 138 common genetic disease-related genes in neonates were detected using the high-throughput sequencing technology based on target gene capture.The pathogenicity of the mutations was interpreted according to the " Classification Criteria and Guidelines for Genetic Variation(2017)" , in which known disease and probable disease were considered as positive mutations.The positive mutations were verified by Sanger sequencing technology, and the test results were analyzed with statistical methods.Results:Among the 1 793 newborns, 978 were male and 815 were female.A total of 158 positive cases were screened(8.81%), and 11 positive diseases were detected.Among the positive diseases, there were 41 cases(2.29%)of autosomal recessive deafness type 1A, 40 cases(2.23%)of Gilbert syndrome or Crigler-Najjar syndrome, and 33 cases(1.84%)of glucose-6-phosphate dehydrogenase deficiency(1.84%), 19 cases(1.06%)of familial hypercho-lesterolemia, 18 cases(1.00%) of sodium taurocholate cotransporter peptide deficiency disease, 2 cases(0.11%)of mitochondrial non-syndromic deafness, 2 cases(0.11%)of Citrin deficiency, 1 case(0.06%)of holocarboxylase synthase deficiency, 1 case(0.06%)of β-thalassemia and 1 case(0.06%)of metachromatic leukodystrophies.Of all studied cases, 972 carried one or more positive mutations, involving 85 kinds of diseases in total.The diseases with a high carrying rate were Gilbert syndrome or Crigler-Najjar syndrome(359 cases, 20.02%), autosomal recessive deafness type 1A(302 cases, 16.84%), and sodium taurocholate cotransport peptide deficiency disease(291 cases, 16.22%). The high-frequency mutation sites were UGT1A1 gene c. 211G> A, GJB2 gene c .109G> A and SLC10A1 gene c. 800C> T. Conclusions:The common genetic diseases detected in neonates from Guangdong province are autosomal recessive deafness type 1A, Gilbert syndrome or Crigler-Najjar syndrome, glucose-6-phosphate dehydrogenase deficiency, familial hypercholesterolemia, and sodium taurocholate cotransport peptide deficiency.There are high-frequency carrying mutation sites in the population.Preliminary genetic screening of common neonatal genetic diseases can accumulate data and experience for the development of newborn genetic screening.
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Objective@#To explore the relationship between weight change and the changes in blood pressure, blood glucose and blood lipid profiles in middle-aged and elderly Chinese people.@*Methods@#All participants were from the Dongfeng-Tongji cohort study. The study included 16 606 middle-aged and elderly Chinese people with complete information in the baseline survey in 2008 and the first follow-up survey in 2013. We collected the data on demographic characteristics, lifestyle, history of diseases and medication, and the results of medical health examinations, including height, weight, blood pressure, fasting blood glucose and lipid profiles. We divided the weight change into five groups, moderate or above weight loss (<-8.0%), slight weight loss (-8.0%, -3.1%), weight maintenance (-3.0%, 3.0%), slight weight increased (3.1%, 8.0%), and moderate or above weight increased (>8.0%). Generalized linear regression model was used to analyze the relationship between weight change and the changes in systolic blood pressure (SBP), diastolic blood pressure (DBP), fasting blood glucose (FBG), total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C) and triglyceride (TG). Subgroup analyses were used to explore the influences of gender, age and baseline BMI level on the relationship between weight change and the above-mentioned metabolic indicators.@*Results@#The average age of participants in baseline survey was (62.19±7.28) years with a range of 45 to 89 years. During the five-year period, there were 18.86% (2 633), 28.03% (4 655), 35.87% (5 956), 13.96% (2 319), 6.28% (1 043) people with moderate or above weight loss, slight weight loss, weight maintenance, slight weight increased, and moderate or above weight increased, respectively. Regression analyses showed that body weight change were positively correlated with changes in SBP, DBP, FBG, TC, LDL-C and TG, and negatively correlated with change in HDL-C (all linear trend P values were<0.05); As every 10% of weight changed, the β (95%CI) of changes in SBP (mmHg) (1 mmHg=0.133 kPa), DBP (mmHg), FBG (mmol/L), TC (mmol/L), LDL-C (mmol/L), HDL-C (mmol/L) and TG (mmol/L) were 4.94 (4.32, 5.55), 2.50 (2.11, 2.88), 0.05 (0.02, 0.08), 0.13 (0.11, 0.16), 0.14 (0.12, 0.16), -0.05 (-0.07, -0.04) and 0.16 (0.14, 0.18), respectively. Furthermore, subgroup analyses showed that weight change can lead to greater changes in blood pressure in older and overweight or obesity elderly people (all P for interaction<0.05).@*Conclusion@#Weight loss was beneficial for middle-aged and elderly people to improve the blood pressure, blood glucose and blood lipid profiles, regardless of the weight at the baseline, while weight gain was not.
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Objective To investigate the association between maternal body height and risk of preterm birth.Methods A total of 11 311 pregnant women who gave birth of live singletons were recruited from the Healthy Baby Cohort Study in Hubei province,China from September 2012 to October 2014.Finally 11 070 pregnant women were selected as study subjects.Data were collected by using questionnaires,their prenatal care records and medical records.The women were divided into 4 groups according to the quartiles distribution (＜158 cm,158-cm,160-cm,and ＞164 cm).Gestational age was estimated according to maternal last menstrual time.Preterm birth was defined as delivering a live singleton infant at 28-37 weeks' gestational age.Logistic regression was used to calculate the odds ratios (OR) and 95％ confidence intervals (CI) for the association between body height and preterm birth.Results Among the 11 070 pregnant women,the incidence of preterm birth was 5.9％.Logistic regression analysis indicated that women in group with body height ＜ 158 cm had 46％ (OR=-1.46,95％CI:1.16-1.83) higher risk of giving preterm birth than those in group with body height ＞ 164 cm after adjustment for potential confounders.Every 1-cm increase in body height was associated with 3％ lower risk of preterm birth (OR=0.97,95％CI:0.95-0.99).Conclusion Shorter body height was a risk factor for preterm birth.It is necessary to strengthen the monitoring in pregnant women with short body height to reduce the risk of preterm birth.
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Objective To investigate the association between maternal body height and risk of preterm birth.Methods A total of 11 311 pregnant women who gave birth of live singletons were recruited from the Healthy Baby Cohort Study in Hubei province,China from September 2012 to October 2014.Finally 11 070 pregnant women were selected as study subjects.Data were collected by using questionnaires,their prenatal care records and medical records.The women were divided into 4 groups according to the quartiles distribution (＜158 cm,158-cm,160-cm,and ＞164 cm).Gestational age was estimated according to maternal last menstrual time.Preterm birth was defined as delivering a live singleton infant at 28-37 weeks' gestational age.Logistic regression was used to calculate the odds ratios (OR) and 95％ confidence intervals (CI) for the association between body height and preterm birth.Results Among the 11 070 pregnant women,the incidence of preterm birth was 5.9％.Logistic regression analysis indicated that women in group with body height ＜ 158 cm had 46％ (OR=-1.46,95％CI:1.16-1.83) higher risk of giving preterm birth than those in group with body height ＞ 164 cm after adjustment for potential confounders.Every 1-cm increase in body height was associated with 3％ lower risk of preterm birth (OR=0.97,95％CI:0.95-0.99).Conclusion Shorter body height was a risk factor for preterm birth.It is necessary to strengthen the monitoring in pregnant women with short body height to reduce the risk of preterm birth.