BACKGROUND: Infertility is a burdensome, often overlooked condition. This study aimed to investigate the global distribution and trends in the burden of infertility from 1990 to 2021. METHODS: We obtained data on the prevalence and years lived with disability (YLDs) related to infertility from the Global Burden of Disease 2021 study and evaluated them by calculating the estimated annual percentage change in age-standardized rates. We investigated the relationship between sociodemographic index (SDI) and the burden of infertility on the global, regional, and national levels. RESULTS: In 2021, there were 143,261,562 female and 55,481,380 male infertility cases worldwide, respectively. In China, female and male infertility cases accounted for 23.59% and 21.47% of the global totals, reaching 33,795,944 and 11,909,889, respectively. Compared with 2019, the global number of female and male infertility cases increased by 5,286,227 in females and 2,017,271 in males. In contrast, China saw a decline in both female and male infertility cases, with reductions of 698,735 and 154,591, respectively. From 1990 to 2021, the age-standardized prevalence rate (ASPR) and age-standardized YLDs rate (ASYR) for female infertility both increased by 0.59% annually, whereas these two corresponding indicators for male infertility increased by 0.50% annually worldwide. The burden of female infertility was consistently higher than that of male infertility and demonstrated a faster rate of increase. East Asia had the highest ASPR and ASYR for female infertility, whereas Eastern Europe had the highest metrics for male infertility. A horizontal S-shaped association was observed between the SDI and ASPR and ASYR of infertility, with a rapid decline in the infertility burden when the SDI exceeded 0.7. CONCLUSIONS The global burden of infertility has increased over the years, with a higher burden on women and underdeveloped regions. These findings emphasize the need to prioritize healthcare for patients with infertility to address the rising burden.
Humans ; Female ; Male ; Global Burden of Disease ; Prevalence ; Infertility/epidemiology* ; Adult ; Infertility, Male/epidemiology* ; Persons with Disabilities/statistics & numerical data* ; Middle Aged ; Infertility, Female/epidemiology* ; China/epidemiology* ; Disability-Adjusted Life Years

Objective:To investigate the association of interpectoral lymph nodes (IPNs) with clinicopathological characteristics in breast cancer and to evaluate their prognostic significance.Method:Data from 117 primary breast cancer specimens with complete clinical and follow-up information who underwent IPNs clearance from Feb. 2016 to Jun. 2024 in Shanghai Second People’s Hospital were collected, including patient age, tumor location, pathological type, histological grade, TNM stage, lymphovascular invasion (LVI) , molecular typing, Ki67, detection rate of IPNs, metastasis rate of IPNs, and patient follow-up information. SPSS18.0 was used to analyze the risk factors and impact on prognosis of IPNs metastasis. In addition, the data of 117 patients with primary breast cancer who did not undergo IPNs in the same period were collected and compared with those who underwent IPNs.Results:In 117 primary breast cancer specimens, the detection rate of IPNs was 28.2% (33/117) , and the metastasis rate was 4.3% (5/117) . There was no statistical difference in patient age ( χ2=0.59, P=1.000) , tumor location ( χ2=2.13, P=0.813) , pathological type ( χ2=1.86, P=0.500) , histological grade ( χ2=0.47, P=0.643) , T stage ( χ2=4.18, P=0.247) , N stage ( χ2=4.89, P=0.127) , TNM stage ( χ2=2.23, P=0.336) , LVI ( χ2=1.05, P=0.360) , molecular typing ( χ2=1.17, P=0.901) , or Ki67 ( χ2=0.01, P=1.000) between IPNs metastasis group and no IPNs metastasis group. However, the data showed that patients with advanced TNM stage and axillary lymph node metastasis were more likely to develop IPNs metastasis. During a median follow-up period of 29 months, IPNs metastasis had no significant effect on the invasive disease-free survival (iDFS) or overall survival (OS) of patients. Meanwhile, there was no significant difference in iDFs or OS between the IPNs non cleaning group and the IPNs cleaning group. Conclusions:The metastasis rate of IPNs in breast cancer patients is not high, mainly occurring in patients with advanced TNM staging and axillary lymph node metastasis. The metastasis of IPNs has no significant impact on the short-term recurrence survival of patients. Moreover, whether IPNs cleaning or not has no significant impact on the recurrence or survival of for the general patients with breast cancer. However, its value in predicting prognosis needs to be verified through larger samples and longer follow-up periods.

Objective:To investigate the association of interpectoral lymph nodes (IPNs) with clinicopathological characteristics in breast cancer and to evaluate their prognostic significance.Method:Data from 117 primary breast cancer specimens with complete clinical and follow-up information who underwent IPNs clearance from Feb. 2016 to Jun. 2024 in Shanghai Second People’s Hospital were collected, including patient age, tumor location, pathological type, histological grade, TNM stage, lymphovascular invasion (LVI) , molecular typing, Ki67, detection rate of IPNs, metastasis rate of IPNs, and patient follow-up information. SPSS18.0 was used to analyze the risk factors and impact on prognosis of IPNs metastasis. In addition, the data of 117 patients with primary breast cancer who did not undergo IPNs in the same period were collected and compared with those who underwent IPNs.Results:In 117 primary breast cancer specimens, the detection rate of IPNs was 28.2% (33/117) , and the metastasis rate was 4.3% (5/117) . There was no statistical difference in patient age ( χ2=0.59, P=1.000) , tumor location ( χ2=2.13, P=0.813) , pathological type ( χ2=1.86, P=0.500) , histological grade ( χ2=0.47, P=0.643) , T stage ( χ2=4.18, P=0.247) , N stage ( χ2=4.89, P=0.127) , TNM stage ( χ2=2.23, P=0.336) , LVI ( χ2=1.05, P=0.360) , molecular typing ( χ2=1.17, P=0.901) , or Ki67 ( χ2=0.01, P=1.000) between IPNs metastasis group and no IPNs metastasis group. However, the data showed that patients with advanced TNM stage and axillary lymph node metastasis were more likely to develop IPNs metastasis. During a median follow-up period of 29 months, IPNs metastasis had no significant effect on the invasive disease-free survival (iDFS) or overall survival (OS) of patients. Meanwhile, there was no significant difference in iDFs or OS between the IPNs non cleaning group and the IPNs cleaning group. Conclusions:The metastasis rate of IPNs in breast cancer patients is not high, mainly occurring in patients with advanced TNM staging and axillary lymph node metastasis. The metastasis of IPNs has no significant impact on the short-term recurrence survival of patients. Moreover, whether IPNs cleaning or not has no significant impact on the recurrence or survival of for the general patients with breast cancer. However, its value in predicting prognosis needs to be verified through larger samples and longer follow-up periods.

Humans ; Genetic Predisposition to Disease ; Multifactorial Inheritance ; Genome-Wide Association Study ; Risk Factors

BACKGROUND: A polygenic risk score (PRS) derived from 112 single-nucleotide polymorphisms (SNPs) for gastric cancer has been reported in Chinese populations (PRS-112). However, its performance in other populations is unknown. A functional PRS (fPRS) using functional SNPs (fSNPs) may improve the generalizability of the PRS across populations with distinct ethnicities. METHODS: We performed functional annotations on SNPs in strong linkage disequilibrium (LD) with the 112 previously reported SNPs to identify fSNPs that affect protein-coding or transcriptional regulation. Subsequently, we constructed an fPRS based on the fSNPs by using the LDpred2-infinitesimal model and then analyzed the performance of the PRS-112 and fPRS in the risk prediction of gastric cancer in 457,521 European participants of the UK Biobank cohort. Finally, the performance of the fPRS in combination with lifestyle factors were evaluated in predicting the risk of gastric cancer. RESULTS: During 4,582,045 person-years of follow-up with a total of 623 incident gastric cancer cases, we found no significant association between the PRS-112 and gastric cancer risk in the European population (hazard ratio [HR] = 1.00 [95% confidence interval (CI) 0.93-1.09], P = 0.846). We identified 125 fSNPs, including seven deleterious protein-coding SNPs and 118 regulatory non-coding SNPs, and used them to construct the fPRS-125. Our result showed that the fPRS-125 was significantly associated with gastric cancer risk (HR = 1.11 [95% CI, 1.03-1.20], P = 0.009). Compared to participants with a low fPRS-125 (bottom quintile), those with a high fPRS-125 (top quintile) had a higher risk of incident gastric cancer (HR = 1.43 [95% CI, 1.12-1.84], P = 0.005). Moreover, we observed that participants with both an unfavorable lifestyle and a high genetic risk had the highest risk of incident gastric cancer (HR = 4.99 [95% CI, 1.55-16.10], P = 0.007) compared to those with both a favorable lifestyle and a low genetic risk. CONCLUSION These results indicate that the fPRS-125 derived from fSNPs may act as an indicator to measure the genetic risk of gastric cancer in the European population.
Humans ; Prospective Studies ; Stomach Neoplasms/genetics* ; Genetic Predisposition to Disease/genetics* ; Risk Factors ; Multifactorial Inheritance/genetics* ; Polymorphism, Single Nucleotide/genetics* ; Genome-Wide Association Study

Objective:To evaluate the possible mediation effect of smoking and healthy diet score on the association between educational level and the risk of lung cancer incidence.Methods:After excluding individuals with missing educational levels and cancer information at baseline, 446?772 participants in the UK Biobank (UKB) prospective cohort study were included. Cox regression models were used to investigate the associations of educational level and smoking and healthy diet score with the incidence of lung cancer. Mediating effect analysis was conducted to analyze the mediating effect of smoking and healthy diet score on the correlation between educational level and lung cancer.Results:During a median follow-up of 7.13 years, 1?994 new- onset lung cancer cases were observed. Per 1 standard deviation (5 years) increase in educational level was associated with a 12% lower risk of lung cancer ( HR=0.88, 95% CI: 0.84-0.92). The corresponding level 1-5 in the International Standard Classification for Education (ISCED) were mapped to UKB self‐report highest qualification to estimate the educational level. A higher rank means a higher educational level. Compared with level ISCED-1, the HR(95% CI) of level ISCED-2, ISCED-3, ISCED-4 and ISCED-5 were respectively 0.83 (0.72-0.94), 0.67 (0.53-0.85), 0.76 (0.65-0.89) and 0.72 (0.64-0.80) for lung cancer. Education years were negatively correlated with smoking, with β coefficients (95% CI) being -0.079 (-0.081- -0.077), but positively correlated with healthy diet score ( β=0.042, 95% CI: 0.039-0.045). Analysis of mediating effect indicated that the association of educational level with lung cancer risk was mediated by smoking and healthy diet score, the proportions of mediating effect were 38.952% (95% CI: 31.802%-51.659%) and 1.784% (95% CI: 0.405%-3.713%), respectively. Conclusion:Smoking and healthy diet score might mediate the effect of educational level on the incidence of lung cancer, indicating that improving the level of education can reduce the risk of lung cancer by changing lifestyles such as smoking and diet.

Although genome-wide association studies have identified more than eighty genetic variants associated with non-small cell lung cancer (NSCLC) risk, biological mechanisms of these variants remain largely unknown. By integrating a large-scale genotype data of 15 581 lung adenocarcinoma (AD) cases, 8350 squamous cell carcinoma (SqCC) cases, and 27 355 controls, as well as multiple transcriptome and epigenomic databases, we conducted histology-specific meta-analyses and functional annotations of both reported and novel susceptibility variants. We identified 3064 credible risk variants for NSCLC, which were overrepresented in enhancer-like and promoter-like histone modification peaks as well as DNase I hypersensitive sites. Transcription factor enrichment analysis revealed that USF1 was AD-specific while CREB1 was SqCC-specific. Functional annotation and gene-based analysis implicated 894 target genes, including 274 specifics for AD and 123 for SqCC, which were overrepresented in somatic driver genes (ER = 1.95, P = 0.005). Pathway enrichment analysis and Gene-Set Enrichment Analysis revealed that AD genes were primarily involved in immune-related pathways, while SqCC genes were homologous recombination deficiency related. Our results illustrate the molecular basis of both well-studied and new susceptibility loci of NSCLC, providing not only novel insights into the genetic heterogeneity between AD and SqCC but also a set of plausible gene targets for post-GWAS functional experiments.
Adenocarcinoma of Lung/genetics* ; Carcinoma, Non-Small-Cell Lung/genetics* ; Carcinoma, Squamous Cell/genetics* ; Genetic Heterogeneity ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Lung Neoplasms/genetics* ; Polymorphism, Single Nucleotide

Recent years with the rapid progress in high-throughput omics techniques, the accumulation of population cohorts and biobanks, great advances in internet and information technology, and the emerging tools for big data utilization, health care big data provide abundant data resources and broad research platforms for epidemiological research. We aimed to review the opportunities and challenges of epidemiological research in the era of big data, and explore the future development of epidemiology. Epidemiology should seize the opportunities, open up new directions, develop new methods, and promote the translation of research results into public health and clinical medicine, which will eventually realize the vision of "Healthy China".

Objective:To explore how to personalize lung cancer screening programs for prevention in Chinese populations based on individual genetic risk score.Methods:We constructed the lung cancer polygenic genetic risk score (PRS-19) based on the 19 previously published genetic variations, using 100 615 participants with genotyping data from the China Kadoorie Biobank (CKB). Using the 5-year absolute risk of lung cancer in a population (55 years old with at least 30-pack-year history of smoking) as reference, the trend of 5-year absolute risk in different genetic risk groups was calculated in smokers and non-smokers, respectively. Distribution curves of 5-year absolute risk were also described to determine the theoretical age or smoking dose when different genetic risk groups reached the reference values. Given the overall findings, the specific start age for lung cancer screening were suggested for different genetic risk groups.Results:The 5-year absolute risk of lung cancer was 0.67% in 55-year-old smokers with 30 packs per year in the CKB. Among smokers, 5-year absolute risk of participants increased as the genetic risk increased. Hence, it was recommended that people at high genetic risk should start screening earlier. For the highest genetic risk populations (the top 1% of PRS), the start age might be changed to 50 years old. If the start age remained at 55-year-old, the smoking dose should be set lowered in high genetic risk populations. For the highest genetic risk populations, they should be included in lung cancer screening regardless of the cumulative smoking exposure. Among nonsmokers, it was also valuable to screen people with high genetic risk, considering the start age of 62 for the highest genetic risk populations and 74 for the lowest genetic risk populations (the bottom 5% of PRS).Conclusions:PRS-19 can be effectively used in developing lung cancer screening program for individualized prevention in China. For smokers with high genetic risk, the recommended starting age and smoking dose could be lowered for lung cancer screening, and non-smokers with high genetic risk could also be included in the screening programs.

With the rapid changes in lifestyle, natural and social environment, the reproductive health status of couples in childbearing age continues to decline, and long-term outcomes of the rapidly increasing offspring conceived by assisted reproductive technology (ART) needs to be evaluated urgently. Therefore, the focus of research now needs to be extended from death and severe diseases to full life cycle and full disease spectrum. In order to meet the demand for such research, we launched the China National Birth Cohort (CNBC) study, an ongoing prospective and longitudinal study aiming to recruit 30 000 families underwent ART and 30 000 families with spontaneous pregnancies. Long-term follow-up programs will be conducted for both spouses and their offspring. Data of couples and their offspring, such as environmental exposure, reproductive history, psychological and behavioral status, will be collected during follow-up. Peripheral blood, urine, umbilical blood, follicular fluid, semen were also collected at different follow-up nodes. Based on high-quality data and biological samples, CNBC will play an extremely important supporting role and have a far-reaching impact on maternal and children's health care and reproductive health in China. This paper is exactly a brief introduction to the construction and basic design of CNBC.