Abstract
While much work has been done in associating differentially methylated positions (DMPs) to type 2 diabetes (T2D) across different populations, not much attention has been placed on ...identifying its possible functional consequences. We explored methylation changes in the peripheral blood of Filipinos with T2D and identified 177 associated DMPs. Most of these DMPs were associated with genes involved in metabolism, inflammation and the cell cycle. Three of these DMPs map to the TXNIP gene body, replicating previous findings from epigenome-wide association studies (EWAS) of T2D. The TXNIP downmethylation coincided with increased transcription at the 3′ UTR, H3K36me3 histone markings and Sp1 binding, suggesting spurious transcription initiation at the TXNIP 3′ UTR as a functional consequence of T2D methylation changes. We also explored potential epigenetic determinants to increased incidence of T2D in Filipino immigrants in the USA and found three DMPs associated with the interaction of T2D and immigration. Two of these DMPs were located near MAP2K7 and PRMT1, which may point towards dysregulated stress response and inflammation as a contributing factor to T2D among Filipino immigrants.
Preserved ratio impaired spirometry (PRISm) is defined as a forced expiratory volume in 1 s (FEV
) <80% predicted and FEV
/forced vital capacity ≥0.70. PRISm is associated with respiratory symptoms ...and comorbidities. Our objective was to discover novel genetic signals for PRISm and see if they provide insight into the pathogenesis of PRISm and associated comorbidities.
We undertook a genome-wide association study (GWAS) of PRISm in UK Biobank participants (Stage 1), and selected single nucleotide polymorphisms (SNPs) reaching genome-wide significance for replication in 13 cohorts (Stage 2). A combined meta-analysis of Stage 1 and Stage 2 was done to determine top SNPs. We used cross-trait linkage disequilibrium score regression to estimate genome-wide genetic correlation between PRISm and pulmonary and extrapulmonary traits. Phenome-wide association studies of top SNPs were performed.
22 signals reached significance in the joint meta-analysis, including four signals novel for lung function. A strong genome-wide genetic correlation (r
) between PRISm and spirometric COPD (r
=0.62, p<0.001) was observed, and genetic correlation with type 2 diabetes (r
=0.12, p=0.007). Phenome-wide association studies showed that 18 of 22 signals were associated with diabetic traits and seven with blood pressure traits.
This is the first GWAS to successfully identify SNPs associated with PRISm. Four of the signals, rs7652391 (nearest gene
), rs9431040 (
), rs62018863 (
) and rs185937162 (
), have not been described in association with lung function before, demonstrating the utility of using different lung function phenotypes in GWAS. Genetic factors associated with PRISm are strongly correlated with risk of both other lung diseases and extrapulmonary comorbidity.
Predictors of Newborn Screening Ma. Paulina Francesca Del Mundo; Feliciano, Angela; Habaluyas, Katrina Erika ...
International journal of health, wellness & society,
01/2020, Letnik:
10, Številka:
4
Journal Article
Recenzirano
Newborn Screening (NBS) is a Philippine government program based on Republic Act 9288 for identification of neonates with genetic, metabolic, or infectious conditions, requiring provision of NBS to ...all newborns. Despite its passage, NBS provision is grossly underutilized in 2019. This study aims to identify factors influencing maternal utilization of NBS in two PhilHealth accredited Public tertiary hospitals in Quezon City. A sample of 399 mothers was obtained by multi-stage sampling. Logistic regression revealed that the factors that are associated with significant increase of maternal utilization of NBS were Hospital Offer (p < 0.001; OR = 25.629), PhilHealth membership (p = 0.049; OR = 1.677) and Hospital Location (p = 0.001,OR = 2.365) A direct offer of NBS to individual mothers increased maternal utilization of NBS the most; however, PhilHealth membership and hospital systems also played a large role in patient compliance. It is recommended that hospitals assign specific hospital staff to actively offer and be responsible for newborn screening prior to discharge, and that PhilHealth coverage is ensured for all.
Objective: To identify the prevalence of soil-transmitted helminthiasis (STH) among school-age children in the Cagayan Valley, the Philippines, assess their level of awareness on the disease, and ...determine predisposing factors of the disease.
Methods: A total of 478 Grades III-V school-age children in Pamplona and Sanchez-Mira School Districts in the Cagayan Valley answered the questionnaire assessing their knowledge, attitude, and practices on STH, subjected to anthropometric measurements, and provided faecal samples for parasitologic assessment (direct smear, Kato-Katz, and formol-ether concentration techniques).
Results: The participants of the study, with 55.86% females, were 8 to 14 years old. Their nutritional status was assessed 'normal' (84.31%), 'severely wasted' (6.49%), 'wasted' (5.23%), 'overweight' (2.72%), and 'obese' (1.26%). The prevalence of infection with at least 1 STH species was 25.99% in Pamplona and 19.40% in Sanchez- Mira. Overall, the prevalence of heavy intensity was 7.11% for Ascaris lumbricoides and 1.67% for Trichuris trichiura. All hookworm infections had light intensities. The majority of the school-age children had a low score in the KAP test. In knowledge of STH, 'stunted growth as a symptom of infection' was associated with a lower risk of Ascaris lumbricoides infection (OR 0.448; 95% CI 0.212, 0.945; P=0.035) while 'playing with soil as a mode of transmission' was associated with an increased risk of Ascaris lumbricoides infection (OR 2.067; 95% CI 1.014, 4.212; P=0.046). In attitude towards STH, 'I think I have intestinal worm now' was associated with a higher risk of Ascaris lumbricoides infection (OR 1.681; 95% CI 1.061, 2.662; P=0.027).
Conclusions: The prevalence rate of Ascaris lumbricoides among the school-age children in the Cagayan Valley shows the need to further intensify intervention in the area to meet the threshold set by the World Health Organization. The identified predictors of infection, which concerns the school-age children's knowledge and attitude toward STH, can be used in augmenting intervention programs in the future.
We used a qualitative cross-sectional study in 20 elementary schools in an area of Cagayan Valley, Philippines where soil-transmitted helminthiasis (STH) is endemic, to analyze the strengths, ...weaknesses, opportunities, and threats for three intervention components for STH control: mass drug administration (MDA), health education, and sanitation. School teachers and staff generally perceived MDA to be a well-delivered program, but opportunities exist to strengthen other control strategies: health education and school rules on hygiene and sanitation at school. Complete and consistent monitoring of program impact and the availability of up-to-date reports on prevalence of the infection can guide teachers’ efforts to promote interventions for STH elimination.
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