Objective Copy number variation sequencing(CNV-seq)and Short tandem repeats(STR)chain analysis were per-formed on 236 cases of abortion tissues to evaluate their clinical application value in analyzing chromosomal abnormalities in abortion tis-sues.Methods The abortion tissues of 236 patients with spontaneous abortion who visited the Prenatal Diagnosis Center of the Second Af-filiated Hospital of Zhengzhou University from March 2021 to August 2024 were collected.CNV-seq and STR linkage analysis were per-formed to determine chromosomal abnormalities with clinical significance in the abortion tissues,and the test results were analyzed.Results Of 236 abortion tissues,6 cases were excluded as serious maternal cell contamination;114 cases showed abnormal chromosomal results;and the remaining 86 were normal,with a positive detection rate of 62.61％(144/230).Abnormal results consisted of 110 aneu-ploidies(69.44％),7 polyploids(4.86％),and 27 copy number variants(18.75％).Most of the aneuploidies were autosomal triso-mies,and trisomy 16 was the most frequent trisomy,followed by trisomy 21.The frequency of chromosomal abnormalities in the advanced maternal age group was significantly higher than that in the younger maternal age group,and the frequency of chromosomal abnormalities in the early abortion group was significantly higher than that in the late abortion group,mainly reflected in the aneuploidy cases.Conclusion Chromosomal aneuploidies were the most common cause of spontaneous abortion;maternal age is closely related to the occurrence of fetal autosomal trisomy.Our study suggests that CNV-seq and STR linkage analysis are efficient and reliable technologies in the chromosome analysis of abortion tissues and could be used as a routine selection method for the genetic analysis of abortion tissues.

Objective Copy number variation sequencing(CNV-seq)and Short tandem repeats(STR)chain analysis were per-formed on 236 cases of abortion tissues to evaluate their clinical application value in analyzing chromosomal abnormalities in abortion tis-sues.Methods The abortion tissues of 236 patients with spontaneous abortion who visited the Prenatal Diagnosis Center of the Second Af-filiated Hospital of Zhengzhou University from March 2021 to August 2024 were collected.CNV-seq and STR linkage analysis were per-formed to determine chromosomal abnormalities with clinical significance in the abortion tissues,and the test results were analyzed.Results Of 236 abortion tissues,6 cases were excluded as serious maternal cell contamination;114 cases showed abnormal chromosomal results;and the remaining 86 were normal,with a positive detection rate of 62.61％(144/230).Abnormal results consisted of 110 aneu-ploidies(69.44％),7 polyploids(4.86％),and 27 copy number variants(18.75％).Most of the aneuploidies were autosomal triso-mies,and trisomy 16 was the most frequent trisomy,followed by trisomy 21.The frequency of chromosomal abnormalities in the advanced maternal age group was significantly higher than that in the younger maternal age group,and the frequency of chromosomal abnormalities in the early abortion group was significantly higher than that in the late abortion group,mainly reflected in the aneuploidy cases.Conclusion Chromosomal aneuploidies were the most common cause of spontaneous abortion;maternal age is closely related to the occurrence of fetal autosomal trisomy.Our study suggests that CNV-seq and STR linkage analysis are efficient and reliable technologies in the chromosome analysis of abortion tissues and could be used as a routine selection method for the genetic analysis of abortion tissues.

Objective:To investigate the DMD genetic variants of the Chinese population with Duchenne (DMD) and Becker muscular dystrophies (BMD).Methods:A cross-sectional study was conducted on 2 690 unrelated patients with DMD and BMD aged 0-18 who visited the Genetic and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University from January 2005 to February 2022. The clinical data, such as gender, age, clinical manifestations, and address, were collected. Multiplex ligation-dependent probe amplification, next generation sequencing panel, Sanger sequencing, and PCR amplification were used to detect the variants of the DMD gene in the patients, whose clinical information and gene detection results were descriptively analyzed.Results:The 2 690 patients included 2 648 males and 42 females, with an age of 6.0 (4.0, 9.0) years. The serum creatine kinase increased in all patients. Pathogenic DMD gene variants were detected in the 2 618 patients, including 1 875 cases (71.6%) large deletions, 231 cases (8.8%) duplications, and 512 cases (19.6%) small variants. Among the deletion variants, the deletion of 3 exons was the most common, accounting for 15.4% (288/1 875); and hotspot deletion involved exons 45 to 50, accounting for 6.3% (119/1 875). Exon 2 was the most common type duplication region, accounting for 13.0% (30/231). Small variants were distributed in all 79 exons of the DMD gene, with no hotspots. In addition, the 46 small variants were previously unreported.Conclusion:Exon deletion is the most common type of DMD gene variant, followed by small variants and exon duplication.

Objective:To examine the heritability of body mass index (BMI) and coronary heart disease (CHD), and to explore whether genetic factors can explain their correlation.Methods:Participants were from 11 provinces/municipalities reqistered in the Chinese National Twin Registry (CNTR) from 2010 to 2018. Participants data were collected from face-to-face questionnaire survey. Bivariate structure equation model was used to estimate the heritability and the genetic correlation of BMI and CHD.Results:A total of 20 340 pairs of same-sex twins aged ≥25 years were included in this study. After adjusting for age and gender, the heritability of BMI and CHD was 0.52 (95% CI: 0.49-0.55) and 0.76 (95% CI: 0.69-0.81), respectively. Further, a genetic correlation was identified between BMI and CHD ( rA=0.10, 95% CI:0.02-0.17). Conclusion:In Chinese adult twin population, BMI and CHD are affected by genetic factors, and their correlation can be attributed to the common genetic basis.

Objective:To examine the heritability of body mass index (BMI) and coronary heart disease (CHD), and to explore whether genetic factors can explain their correlation.Methods:Participants were from 11 provinces/municipalities reqistered in the Chinese National Twin Registry (CNTR) from 2010 to 2018. Participants data were collected from face-to-face questionnaire survey. Bivariate structure equation model was used to estimate the heritability and the genetic correlation of BMI and CHD.Results:A total of 20 340 pairs of same-sex twins aged ≥25 years were included in this study. After adjusting for age and gender, the heritability of BMI and CHD was 0.52 (95% CI: 0.49-0.55) and 0.76 (95% CI: 0.69-0.81), respectively. Further, a genetic correlation was identified between BMI and CHD ( rA=0.10, 95% CI:0.02-0.17). Conclusion:In Chinese adult twin population, BMI and CHD are affected by genetic factors, and their correlation can be attributed to the common genetic basis.

Objective:To describe the differences in body mass index (BMI) distribution in adult twins registered in Chinese National Twin Registry (CNTR), and provide evidence for the risk factor analysis and prevention and control of overweight or obesity.Methods:A total of 32 725 twin pairs aged 18 years and above who completed the questionnaire survey during 2010-2018 and had complete registered information in CNTR and normal body weight and length were included in the analysis on the population and region specific distributions of BMI of twin pairs and the difference in BMI in twin pairs.Results:The twin pairs included in the analysis were aged (34.6±12.4) years, the twin pairs of same gender accounted for 79.7%. The average BMI was 22.5 kg/m 2. The overall prevalence of obesity and overweight was 4.9% and 23.7%, respectively. Participants who were men, 50-59 years old, married, had lower education level, and lived in northern China had higher overweight rate and obesity rate ( P<0.001). The difference in overweight or obesity prevalence between monozygotic (MZ) twin pars and dizygotic (DZ) twin pairs was not significant, but firstborn twin pairs had slightly higher rates of overweight and obesity than later-born twin pairs ( P<0.05). The analysis in same gender-twin pairs indicated that the difference in BMI was associated with age (trend test: P<0.001), and the difference was more obvious in DZ twin pair in MZ pair and this difference increased with age. The concordant rate of BMI was higher in MZ twin pairs than DZ twin pairs ( P<0.05). Conclusion:The distribution of BMI of twin pairs varied with population and region and BMI varied with age due to its genetic nature.

Objective:To explore the modification effect of physical activity on the genetic effects of type 2 diabetes mellitus (T2DM).Methods:The univariate moderation model was fitted to calculate the modifying effect of physical activity on the genetic effects of T2DM based on the data of 12 107 pairs of same gender twins aged 30 years and older enrolled by the Chinese National Twin Registry in 11 provinces/cities in China.Results:After adjusting for age and gender, the heritability of T2DM was 0.56 (0.31-0.84). Qualified physical activity could attenuate the genetic effects of T2DM. The heritability of T2DM in twin pairs with qualified physical activity was 0.46 (0.06-0.88), which was lower than that in twin pairs without qualified physical activity during the same model [0.68(0.36-0.94)].Conclusion:T2DM is a moderate genetic disease, physical activity can modify the genetic effects of T2DM.

Objective:To explore the gene-body mass index (BMI) interaction on coronary heart disease (CHD) in the Chinese adult twins.Methods:A total of 20 340 same-sex twin pairs registered in the Chinese National Twin Registry (CNTR) were enrolled in this study. Classical twin structure equation model was used to estimate the gene-BMI interaction on CHD.Results:After adjusting for age, we found that genetic variance of CHD differed as the function of BMI in male twins, which indicated the presence of a gene-BMI interaction on CHD ( P=0.008).The genetic moderating effect ( βa) was -0.14 (95% CI: -0.22--0.04), indicating that for each logarithmic transformation value of BMI increase, genetic path parameters would decrease by 0.14, which would result in the decrease of genetic variance of CHD. And the heritability of CHD was 0.77 (95% CI: 0.65-0.86) among the male twins with lower BMI (<24.0 kg/m 2), but 0.56 (95% CI: 0.33-0.74) among the male twins with high BMI (≥24.0 kg/m 2). However, there was no evidence suggesting that BMI could moderate genetic variants of CHD in female. Conclusion:We found a significant gene-BMI interaction on CHD in the Chinese male adult twins in China, and the heritability of CHD was higher among the twins whose BMI was <24.0 kg/m 2.

Objective:To quantitate the association between birth weight and phenotypes of physical indicators in adulthood, i.e. BMI and waist circumference (WC) and to what degree genetic or environmental factors affect birth weight-obesity association.Methods:A total of 6 623 gender matched twin pairs aged 25 to 79 years were recruited through the Chinese National Twin Registry. The twins reported their own birth weight, current height and weight, and WC using a self-administered questionnaire. BMI was calculated according to the self-reports of body height and weight. Within twin-pair design was used to quantitate the association between birth weight and phenotypes related to obesity while bivariate structural equation models were used to decompose the phenotype correlation.Results:After adjusted for multiple factors, twin-pair analyses within monozygotic (MZ) showed that, on average, a 1.0 kg increase in birth weight corresponded to an increase of 0.33 kg/m 2 in BMI and 0.95 cm in WC in adulthood ( P<0.001). Bivariate structural equation models showed significant positive unique environmental correlation between birth weight and the two obesity-related phenotypes. Conclusion:The study supported the role of twin-specific supply line factors on relationship between birth weight and physical indicators in adulthood.

Objective To evaluate the effect of pre-cut-endoscopic mucosa resection of colorectal laterally spreading tumor. Methods 65 patients with LST were enrolled from January 2014 to February 2014. LST was detected by chromoendoscopy and NBI combined with magnifying endoscopy technique. The size, site, morphological features, were observed and the histopathological features of the specimen of LST was analyzed. All the 65 LSTs were resect by pre-cut-EMR. The clinical results including enbloc resection rate, all bloc resection rate, procedure time, complication and recurrence rates were retrospectively evaluated. Results All the 65 LSTs lesions ranged from 2.0 cm to 5.0 cm, with a mean diameter of (2.4 ± 1.7) cm. The site of 65 LSTs was in rectum 28 (43.1 %), 11 LSTs in sigmoid colon (16.9 %), 6 LSTs in descending colon (9.2 %), 2 LSTs in splenic flexure of colon (3.1 %), 9 LSTs in transverse colon (13.8 %), 4 LSTs in Hepatic flexure of colon (6.2 %), 2 LSTs in ascending colon(3.1 %), and 3 LSTs in cecum (4.6 %). Morphology of 23 LSTs were homogeneous granular type (35.4 %), 27 LSTs were mixed non-granular type (41.5 %), 13 LSTs were flat elevated type (20.0 %), and 2 LSTs were pseudo-depressed type (3.1 %). The histopathological diagnoses of LST included 12 tubular adenoma (18.5 %), 19 villous-tubular adenoma (29.2 %), 26 villous adenoma (40.0 %), 7 advanced intraepithelial tumor (10.7 %), 1 intramucosal carcinoma (1.5 %). Enbloc resection was achieved in 65 patients (100.0 %) with a mean operation time of (18.0 ± 11.7) min. 5 cases were bleeding during the operation (7.7 %), 1 case was bleeding 7 days after operation (1.5 %), no perforation was happened. 65 patients were followed up for 3 ~ 12 months, and no local recurrence was found. Conclusion Pre-cut-endoscopic mucosal resection an effective and safe therapy for colorectal LST larger than 2.0 cm.