Association between MCU Gene Polymorphisms with Obesity: Findings from the All of Us Research Program.

Obesity is a public health crisis, and its prevalence disproportionately affects African Americans in the United States. Dysregulation of organelle calcium homeostasis is associated with obesity. The mitochondrial calcium uniporter (MCU) complex is primarily responsible for mitochondrial calcium homeostasis. Obesity is a multifactorial disease in which genetic underpinnings such as single-nucleotide polymorphisms (SNPs) may contribute to disease progression. The objective of this study was to identify genetic variations of MCU with anthropometric measurements and obesity in the All of Us Research Program. METHODS: We used an additive genetic model to assess the association between obesity traits (body mass index (BMI), waist and hip circumference) and selected MCU SNPs in 19,325 participants (3221 normal weight and 16,104 obese). Eleven common MCU SNPs with a minor allele frequency ≥ 5% were used for analysis. RESULTS: We observed three MCU SNPs in self-reported Black/African American (B/AA) men, and six MCU SNPs in B/AA women associated with increased risk of obesity, whereas six MCU SNPs in White men, and nine MCU SNPs in White women were protective against obesity development. CONCLUSIONS: This study found associations of MCU SNPs with obesity, providing evidence of a potential predictor of obesity susceptibility in B/AA adults.

Measurement of School Engagement in Elementary School Students: A Scoping Review.

IMPORTANCE: School engagement is the extent to which students commit to and participate in school activities, including internal thoughts, emotions, and observable behaviors. It is critical to children's academic outcomes and mental health. Occupational therapy practitioners support children at school to maintain mental well-being and meet their school outcomes. However, how occupational therapy practitioners should measure school engagement among elementary school students remains unclear. OBJECTIVE: To identify and characterize how elementary school students' school engagement is currently measured. DATA SOURCES: PsycINFO, Eric, CINAHL, and A+ Education databases. Two reviewers screened titles and abstracts, and one reviewer completed full-text screening and data extraction using Excel. STUDY SELECTION: The Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews guided this review. Studies published between 2015 and 2021 were included if full text was available, written in English, and used a measure designed for elementary school-age students. Studies were excluded if they used no school engagement measurement; used only infant, adolescent, or adult scales; were not available for review; and did not meet the inclusion criteria. FINDINGS: The review included 125 studies. A range of self-report, observational, teacher-report, and caregiver-report measures of school engagement were identified. Behavioral school engagement was most commonly measured. Included studies were primarily published in education and psychology fields, with none published in occupational therapy journals. CONCLUSIONS AND RELEVANCE: A range of school engagement measurements can be found in the literature, but no consensus exists on a validated school engagement measurement for occupational therapy practice. What This Article Adds: This review provides occupational therapy practitioners with a comprehensive understanding of (1) the importance of school engagement to mental health and (2) the range of behavioral, cognitive, and emotional engagement measures currently available for use with elementary school-age children, thereby enhancing the profession's knowledge and scope of practice in school engagement.

Measurement of Self-regulation in Preschool and Elementary Children: A Scoping Review.

AIMS: This scoping review sought to identify and characterize measurement of self-regulation in preschool and elementary aged children. METHODS: The Preferred Reporting Items for Systematic Reviews and Meta-Analyses-Scoping Review (ScR) guidelines were applied. Databases from the fields of allied health, education, medicine, and social sciences were searched including: CINAHL, Education Database (ProQuest), Education Research Complete, EMBASE, ERIC, iNFORMIT Combined, Medline, PsychINFO, Social Sciences (ProQuest), Teacher Reference Center, and Web of Science. Articles published between 2015 and 2020 were included. Dual review was utilized at all stages and a third reviewer resolved any conflicts. RESULTS: Sixty-seven studies were included in this review. A range of observational, self-report, teacher report, caregiver report, and observational measures of self-regulation were identified. Included studies were primarily published in education and psychology disciplines, with no studies by occupational therapists identified. CONCLUSIONS: Although a range of measures were identified in this scoping review, the results highlight the lack of consensus regarding self-regulation measurement that occupational therapists use to design and implement therapy programs to address child emotional and behavioral needs.

What the Jackson Heart Study Has Taught Us About Diabetes and Cardiovascular Disease in the African American Community: a 20-year Appreciation.

PURPOSE OF REVIEW: The burden of cardiometabolic diseases such as cardiovascular disease (CVD) and type 2 diabetes (T2D) is pronounced among African Americans. Research has shown that behavioral, social, metabolic, psychosocial, and genetic risk factors of CVD and T2D are closely interwoven. Approximately 20 years ago, the Jackson Heart Study (JHS) was established to investigate this constellation of risk factors. RECENT FINDINGS: Findings from neighborhood studies emphasize the importance of social cohesion and physical environment in the context CVD and T2D risk. Socioeconomic status factors such as income and education were significant predictors for CVD and T2D. Behavioral studies indicate that modifiable risk factors such as smoking, physical inactivity, lack of sleep, and poor nutrition are associated with CVD risk and all-cause mortality. Mental health also was found to be associated with CVD and T2D. Genetic influences are associated with disease etiology. This review summarizes the joint contributions of CVD and cardiometabolic risk factors in an African American population.

A cis-eQTL in PFKFB2 is associated with diabetic nephropathy, adiposity and insulin secretion in American Indians.

A prior genome-wide association study (GWAS) in Pima Indians identified a variant within PFKFB2 (rs17258746) associated with body mass index (BMI). PFKFB2 encodes 6-phosphofructo-2-kinase/fructose 2,6-bisphosphatase isoform 2, which plays a role in glucose metabolism. To follow-up on the GWAS, tag SNPs across PFKFB2 were genotyped in American Indians (AI) who had longitudinal data on BMI (n = 6839), type 2 diabetes (T2D; n = 7710), diabetic nephropathy (DN; n = 2452), % body fat (n = 555) and insulin secretion (n = 298). Two SNPs were further genotyped in urban AI to assess replication for DN (n = 864). PFKFB2 expression was measured in 201 adipose biopsies using real-time RT-PCR and 61 kidney biopsies using the Affymetrix U133 array. Two SNPs (rs17258746 and rs11120137), which capture the same signal, were associated with maximum BMI in adulthood (ß = 1.02 per risk allele, P = 7.3 × 10(-4)), maximum BMI z-score in childhood (ß = 0.079, P = 0.03) and % body fat in adulthood (ß = 3.4%, P = 3 × 10(-7)). The adiposity-increasing allele correlated with lower PFKFB2 adipose expression (ß = 0.81, P = 9.4 × 10(-4)). Lower expression of PFKFB2 further correlated with higher % body fat (r = -0.16, P = 0.02) and BMI (r = -0.17, P = 0.02). This allele was also associated with increased risk for DN in both cohorts of AI [odds ratio = 1.64 (1.32-2.02), P = 5.8 × 10(-6)], and similarly correlated with lower PFKFB2 expression in kidney glomeruli (ß = 0.87, P = 0.03). The same allele was also associated with lower insulin secretion assessed by acute insulin response (ß = 0.78, P = 0.03) and 30-min plasma insulin concentrations (ß = 0.78, P = 1.1 × 10(-4)). Variation in PFKFB2 appears to reduce PFKFB2 expression in adipose and kidney tissues, and thereby increase risk for adiposity and DN.