Limb development genes underlie variation in human fingerprint patterns

Fingerprints are of long-standing practical and cultural interest, but little is known about the mechanisms that underlie their variation. Using genome-wide scans in Han Chinese cohorts, we identified 18 loci associated with fingerprint type across the digits, including a genetic basis for the long-recognized “pattern-block” correlations among the middle three digits. In particular, we identified a variant near EVI1 that alters regulatory activity and established a role for EVI1 in dermatoglyph patterning in mice. Dynamic EVI1 expression during human development supports its role in shaping the limbs and digits, rather than influencing skin patterning directly. Trans-ethnic meta-analysis identified 43 fingerprint-associated loci, with nearby genes being strongly enriched for general limb development pathways. We also found that fingerprint patterns were genetically correlated with hand proportions. Taken together, these findings support the key role of limb development genes in influencing the outcome of fingerprint patterning

No increased risk of intussusception after pentavalent rotavirus vaccination in China: a retrospective birth cohort using electronic health records of Ningbo city

ABSTRACTSome post-licensure studies have shown a potential increased risk of intussusception following vaccination with rotavirus vaccines. This is the first study that aimed to assess the incidence and risk of intussusception within 90 days after vaccination with RotaTeq in Chinese infants. A population-based birth cohort from 27th November 2018 to 30th June 2021 included all newborns in Ningbo city. The records of intussusception were identified through the ICD-10 code K56.1 or Chinese keywords “Chang Tao” from all hospital discharge records. Each episode was confirmed in line with the Brighton criteria, and only Brighton level 1 cases were included. The association of RotaTeq vaccination and intussusception was evaluated using the Poisson regression. A total of 108,405 eligible subjects from birth cohort were eligible, with 52.30% males. Among them, 26, 847 (24.77%) infants received at least one dose of RotaTeq, and 95.52% of them were fully vaccinated, with 76, 934 doses in total. After adjudication, none of the cases occurred post first, or second dose, the cumulative number of cases that occurred 1–7, 1–14, 1–21, 1–42, and 1–90 days post third dose was 0, 1, 1, 3, and 7, respectively. Adjusting for age, sex, birth year, birth season and location, the incidence rate ratio of intussusception after RotaTeq vaccination was 0.90 (90% two-sided CI: 0.46, 1.75). Increasing age and male gender were associated with higher risk of intussusception. In summary, no increased risk of IS was observed following 3 months of RotaTeq vaccination in this study

Prevalence of Oral Clefts among Live Births in Gansu Province, China

Background: Oral clefts (OCs) are common human birth defects. Children with OCs in underdeveloped regions are more likely to suffer from poverty and hardship in their future lives. Here, we attempted to estimate the prevalence of OCs among live births in Gansu Province in 2008 to understand the epidemiologic pattern of the disease. Methods: A cross-sectional study was conducted from January 2008 to December 2008 in Gansu Province. The live births delivered between January and December 2008 with OCs were investigated through face-to-face questionnaire survey. Results: A total of 468 infants with OCs were identified among 347,137 live births in 2008 in Gansu Province, which yielded a prevalence of 1.35 per 1000 live births. The majority of these cases were CL (cleft lip) (prevalence = 0.85 per 1000 live births), and the prevalence of CLP (cleft lip and palate) and CP (cleft palate) was 0.34 and 0.11 per 1000 live births, respectively. We also found that the prevalence of OCs in Jiayuguan (3.39 per 1000 live births) and Dingxi (2.71 per 1000 live births) was higher than those of other cities in Gansu Province. Additionally, we failed to detect significant correlation between economic conditions of the cities and the prevalence of OCs in our study. Conclusions: The prevalence of OCs among live births in Gansu Province in 2008 was higher than the prevalence of OCs in other provinces in China. The high prevalence may reflect the need for further etiological studies to explore the potential risk factors in this region. In addition, more subtype information needs to be collected in future prevalence studies for better understanding of the epidemiologic pattern of the disease

Post-marketing surveillance for the safety of the 9-valent human papillomavirus vaccine: a retrospective real-world study in China

Background The 9-valent human papillomavirus (9vHPV) vaccine was introduced in China in 2018. This study was conducted to monitor the occurrence of new-onset autoimmune diseases (AIs) in Chinese women vaccinated with the 9vHPV vaccine and adverse pregnancy outcomes in infants born to mothers with inadvertent pregnancy exposure. Research design and methods Women who received the first dose of the 9vHPV vaccine at age 16–26 years in Ningbo between January 2019 and March 2021 were monitored in the Ningbo Regional Health Information Platform. New-onset cases of seven pre-specified AIs diagnosed within six months after vaccination were collected. Cases of stillbirth and 23 major congenital anomalies diagnosed within three months of birth in target infants were collected. Results A total of 102,670 doses of the 9vHPV vaccine were administered to 41,609 women who had received no other HPV vaccine. New-onset AIs were diagnosed in 36 women, comprising 21 Hashimoto’s, 11 Graves’, and 4 uveitis disease cases. Among 50 women with maternal vaccination exposure, no stillbirths were observed. One case of microtia was observed. Conclusions In this first post-marketing surveillance of the 9vHPV vaccine in China, no safety signals were identified when putting the results in context to published data

Integrated database-based Screening Cohort for Asian Nomadic descendants in China (Scan-China): Insights on prospective ethnicity-focused cancer screening

Established in 2017, the Screening Cohort for Asian Nomadic descendants in China (Scan-China) has benefited over 180,000 members of a multi-ethnic population, particularly individuals of Mongolian descent compared with the general population (Han ethnicity), in the Inner Mongolia Autonomous Region, China. This cohort study aims to evaluate the effectiveness of cancer screening and serve as a real-world data platform for cancer studies. The 6 most prevalent cancers in China are considered—namely, breast, lung, colorectal, gastric, liver and esophageal cancer. After baseline cancer risk assessments and screening tests, both active and passive follow-up (based on the healthcare insurance database, cancer registry, the front page of hospital medical records, and death certificates) will be conducted to trace participants’ onset and progression of cancers and other prevalent chronic diseases. Scan-China has preliminarily found a disproportionately lower screening participation rate and higher incidence/mortality rates of esophageal and breast cancer among the Mongolian population than among their Han counterparts. Further research will explore the cancer burden, natural history, treatment patterns, and risk factors of the target cancers

Prenatal famine exposure, adulthood obesity patterns and risk of type 2 diabetes

Abstract Background: Prenatal exposure to famine and adulthood obesity have been independently related to the risk of type 2 diabetes; however, little is known about the joint effects of these risk factors at different stages of life on adulthood diabetes risk. Methods: The analysis included 88 830 participants of the China Kadoorie Biobank, who were born around the time of the Chinese Great Famine and without diabetes, cardiovascular diseases, or cancer at baseline. We defined famine exposure subgroups as nonexposed (born between 1 October 1962 and 30 September 964), fetal-exposed (born between 1 October 1959 and 30 September 1961) and early-childhood exposed (born between 1 October 1956 and 30 September 1958). General obesity was assessed by body mass index (BMI: overweight ≥ 24.0, obesity ≥ 28.0) and abdominal obesity assessed by waist-to-hip ratio (WHR, men/women: moderate ≥ 0.90/0.85, high ≥ 0.95/0.90). Results: During a median 7.3 years (642 552 person-years) of follow-up, we identified 1372 incident cases of type 2 diabetes. Compared with nonexposed and early-childhood exposed participants combined as a single comparison group, fetal-exposed participants showed an increased risk of diabetes in adulthood [hazard ratio (HR) = 1.25; 95% confidence interval (CI): 1.07–1.45]. The association between general obesity and diabetes was consistent across subgroups according to famine exposure (P for interaction > 0.05). A stronger association between abdominal obesity and diabetes was observed in the fetal-exposed subgroup than in other subgroups (P for interaction = 0.025 in the whole population). This interaction was more obvious in women (P = 0.013) but not in men (P = 0.699). Compared with normal-BMI and -WHR participants, those with both general (BMI ≥ 24.0) and abdominal (WHR ≥ 0.90/0.85) obesity in adulthood had 5.32 (95% CI: 3.81–7.43)-, 3.13 (2.48–3.94)- and 4.43 (3.45–5.68)-fold higher risks if these were carried during, before and after times of famine, respectively. Conclusions: Coexistence of prenatal experience of undernutrition and abdominal obesity in adulthood was associated with a higher risk of type 2 diabetes

The association between exposure to PM2.5 components from coal combustion and mortality in female breast cancer patients

PM _2.5 components may promote the development of breast cancer and increase the risk of mortality. This study aims to investigate the associations between long-term exposure to PM _2.5 components and multiple causes of mortality among women with breast cancer living in Inner Mongolia, China. We constructed an Inner Mongolia cohort of 33 952 breast cancer patients from 2012 to 2021 using data from the Inner Mongolia Regional Health Information Platform. We assessed each patient’s exposure to PM _2.5 components using the Tracking Air Pollution in China database. Cox regression models were used to estimate adjusted hazard ratios and 95% confidence intervals (95% CIs). A total of 3295 deaths were identified. For each interquartile increase in concentration in the 5 years before diagnosis, the all-cause mortality increased significantly by 5% (HR: 1.05, 95%CI: 1.00–1.10) for black carbon and by 4% (HR: 1.04, 95%CI: 1.00–1.09) for sulfate (SO _4 ^2− ), and decreased by 7% (HR: 0.93, 95%CI: 0.88–0.98) for nitrate (NO _3 ^− ). An association between organic matter and an increased all-cause mortality was also observed. Similar results were found for associations with risk of death from breast cancer-specific causes, cardio-cerebrovascular disease (CCVD) causes, and respiratory causes. Stronger associations were observed in older age groups and in Han Chinese patients. Our results showed that long-term exposure to black carbon, organic matter, and SO _4 ^2− were more responsible for the increased risk of death from all causes, breast cancer-specific causes, CCVD causes, and respiratory causes. This suggests that more effective measures to control coal combustion emissions in Inner Mongolia are urgently needed. The elderly and Han Chinese populations may be at high risk