Phenome-wide association study in 25,639 pregnant Chinese women reveals loci associated with maternal comorbidities and child health.

Phenome-wide association studies (PheWAS) have been less focused on maternal diseases and maternal-newborn comorbidities, especially in the Chinese population. To enhance our understanding of the genetic basis of these related diseases, we conducted a PheWAS on 25,639 pregnant women and 14,151 newborns in the Chinese Han population using ultra-low-coverage whole-genome sequence (ulcWGS). We identified 2,883 maternal trait-associated SNPs associated with 26 phenotypes, among which 99.

Genetic Determinants of Somatic Selection of Mutational Processes in 3,566 Human Cancers.

The somatic landscape of the cancer genome results from different mutational processes represented by distinct "mutational signatures." Although several mutagenic mechanisms are known to cause specific mutational signatures in cell lines, the variation of somatic mutational activities in patients, which is mostly attributed to somatic selection, is still poorly explained. Here, we introduce a quantitative trait, mutational propensity (MP), and describe an integrated method to infer genetic determinants of variations in the mutational processes in 3,566 cancers with specific underlying mechanisms.

Exonic variants undergoing allele-specific selection in cancers.

Background: Allelic imbalance (AI) in tumors is caused by chromosomal and sub-chromosomal gains and losses.

Results: We evaluated AI at 109,086 germline exonic SNP loci in four cancer types, and identified a set of SNPs that demonstrate strong tumor allele specificity in AI events. Further analyses demonstrated that these alleles show consistently different frequencies in the cancer population compared to the healthy population and are significantly enriched for predicted protein-damaging variants.

IRF4 and STAT3 activities are associated with the imbalanced differentiation of T-cells in responses to inhalable particulate matters.

Background: Particulate Matter (PM) is known to cause inflammatory responses in human. Although prior studies verified the immunogenicity of PM in cell lines and animal models, the effectors of PM exposure in the respiratory system and the regulators of the immunogenicity of PM is not fully elucidated.

Methods: To identify the potential effector of PM exposure in human respiratory system and to better understand the biology of the immunogenicity of PM, We performed gene-expression profiling of peripheral blood mononuclear cells from 171 heathy subjects in northern China to identify co-expressed gene modules associated with PM exposure.

Multi-Factor Analysis of Single-Center Asthma Control in Xiamen, China.

We evaluated the effects of air pollutants, age, allergic history, family allergic history, treatment, treatment steps, and compliance on uncontrolled childhood asthma in Xiamen, China. The clinical data of children with asthma in the pediatric outpatient department of the First Affiliated Hospital of Xiamen University from January 2016 to June 2018 were analyzed retrospectively. According to the assessment of the patients' outcome including well-controlled, partly-controlled and uncontrolled, 7,211 cases of 3,268 patients were selected.

Effects of particulate matter (PM) on childhood asthma exacerbation and control in Xiamen, China.

Background: The short-term effects of particulate matter (PM) exposure on childhood asthma exacerbation and disease control rate is not thoroughly assessed in Chinese population yet. The previous toxic effects of PM exposure are either based on long-term survey or experimental data from cell lines or mouse models, which also needs to be validated by real-world evidences.

Methods: We evaluated the short-term effects of PM exposure on asthma exacerbation in a Chinese population of 3106 pediatric outpatientsand disease control rate (DCR) in a population of 3344 children using case-crossover design.

Ambient air pollution, weather changes, and outpatient visits for allergic conjunctivitis: A retrospective registry study.

Allergic conjunctivitis is a common problem that significantly impairs patients' quality of life. Whether air pollution serves as a risk factor for the development of allergic conjunctivitis remains elusive. In this paper, we assess the relationship between air pollutants and weather conditions with outpatient visits for allergic conjunctivitis.

[Development and assessment of a dry eye questionnaire applicable to the Chinese population].

Objective: To develop and assess a new dry eye questionnaire applicable to the Chinese population.

Methods: Based on literature review and clinical practice, a dry eye questionnaire was developed and optimized to apply to Chinese dry eye patients in the language expression and culture background. Participants (78 patients with dry eye and 82 controls) completed the dry eye questionnaire and the ocular surface disease index (OSDI) questionnaire, and ophthalmic examinations were performed, including slit lamp examination, tear breakup time, fluorescein staining, Schirmer I test and meibomian gland assessment.