Neoplasia in an assurance population of Puerto Rican crested toads (Peltophryne lemur).

Disease monitoring of amphibian assurance populations is an important buffer against ongoing global extinctions. This study documents a high incidence of neoplasia in a zoo-managed assurance population of Puerto Rican crested toads (Peltophryne lemur; PRCTs). Over 5 years, neoplasia was diagnosed in 17/49 (35%) submitted adult PRCTs and was the cause of death or euthanasia in 13/17 (72%). Most toads were male (16/17; 94%) and 6 to 11-years-old (average 8.1 years). Notably, seven toads (41%) had multiple neoplasms. Of the 29 neoplasms identified, 17 (59%) were cutaneous or subcutaneous. The most common neoplasms included mast cell tumors (MCTs; 8/29; 28%), histiocytic sarcomas (6/29; 21%), lymphoma/leukemia (4/29; 14%), and squamous cell carcinomas (3/29; 10%). Distant metastases were documented in 6/8 (75%) toads with MCTs. Causes for neoplasia in this population were not determined though may include genetic or environmental factors. Continued investigations of managed endangered amphibians will help elucidate mechanisms of carcinogenesis.

Technology-based communication among Hurricane Maria survivors in the United States: a trans-territorial lens.

PURPOSE: Rooted in a trans-territorial framework, the present study was designed to provide new evidence regarding the patterns of communication among Hurricane Maria survivors who migrated to the U.S. in the aftermath of the storm. METHODS: A total of 319 Hurricane Maria survivor adults ages 18 and older were recruited into the Adelante Boricua study between August 2020 and October 2021. Most participants had relocated to the U.S. between 2017 and 2018. We used latent profile analysis and multinomial regression to examine the relationship of technology-based communication with depressive symptoms, well-being, cultural connection, and migration stress. RESULTS: We identified a five-class solution, consisting of (1) moderate communication (32%), (2) disengaged (24%), (3) no social media (18%), (4) daily with family in Puerto Rico (6%), and (5) daily trans-territorial (13%) typologies. Participants in the disengaged class were more likely to report elevated depressive symptoms and limited English proficiency, lower prosocial behaviors, lower levels of religiosity, lower attendance at religious services in the U.S., and less engagement in social activities, compared to participants in the Moderate Communication class. CONCLUSION: Roughly one in four individuals in our sample reported very limited technology-based communication with friends/family in their sending and new-receiving communities. As technology and smartphones continue to become integrated into 21st-century life, it is vital that researchers explore how the tremendous potential for connectedness relates to trans-territorial crisis migrants' well-being and adaptation.

Plasma metabolites associated with cognitive function across race/ethnicities affirming the importance of healthy nutrition.

INTRODUCTION: We studied the replication and generalization of previously identified metabolites potentially associated with global cognitive function in multiple race/ethnicities and assessed the contribution of diet to these associations. METHODS: We tested metabolite-cognitive function associations in U.S.A. Hispanic/Latino adults (n = 2222) from the Community Health Study/ Study of Latinos (HCHS/SOL) and in European (n = 1365) and African (n = 478) Americans from the Atherosclerosis Risk In Communities (ARIC) Study. We applied Mendelian Randomization (MR) analyses to assess causal associations between the metabolites and cognitive function and between Mediterranean diet and cognitive function. RESULTS: Six metabolites were consistently associated with lower global cognitive function across all studies. Of these, four were sugar-related (e.g., ribitol). MR analyses provided weak evidence for a potential causal effect of ribitol on cognitive function and bi-directional effects of cognitive performance on diet. DISCUSSION: Several diet-related metabolites were associated with global cognitive function across studies with different race/ethnicities. HIGHLIGHTS: Metabolites associated with cognitive function in Puerto Rican adults were recently identified. We demonstrate the generalizability of these associations across diverse race/ethnicities. Most identified metabolites are related to sugars. Mendelian Randomization (MR) provides weak evidence for a causal effect of ribitol on cognitive function. Beta-cryptoxanthin and other metabolites highlight the importance of a healthy diet.

Geographic dispersion and racial disparities in homeownership among Puerto Ricans.

The U.S. mainland Puerto Rican population has experienced dramatic growth and geographic dispersion in recent decades. Once overwhelmingly concentrated in the Northeast, especially New York City, Puerto Rican populations have grown dramatically in newer destinations such as Orlando, Florida. While the implications of dispersion for status attainment have received significant scholarly attention for Latinos as a whole, variation across national origin groups are less well understood. Owing to their unique racial and socioeconomic composition and historical settlement patterns, the impact of dispersion on dimensions such as homeownership could be particularly important for Puerto Ricans, since it implies a dramatic change in housing and economic context. This paper draws on U.S. Census data to examine the impact of metropolitan context, including a typology of destination types that reflects dispersion patterns, on Puerto Rican homeownership. A central objective is evaluating how location shapes racial inequality within the group, as well as the homeownership gaps between Puerto Ricans and non-Latino White, non-Latino Black, and other Latino Americans. Results show that metropolitan context, including housing conditions, residential segregation, and type of co-ethnic community, helps explain inequality among Puerto Ricans and relative to other groups. Thus, dispersion not only boosts Puerto Rican homeownership overall, it also contributes to narrowing inequality between Puerto Ricans and others, and racial inequality among Puerto Ricans.

Social Determinants of Health in the Lives of Urban-Dwelling, Pregnant Puerto Rican Women and Families: Nursing Implications From a Secondary Narrative Analysis.

Urban-dwelling childbearing Puerto Rican women and families on the U.S. mainland face a myriad of social determinants that affect pregnancy and overall health outcomes. Historically, Puerto Ricans have poorest pregnancy outcomes of all Hispanic women. Acknowledgment of the cyclic, structural barriers faced by this patient population is essential to providing wholistic care. Here, we discuss family nursing implications derived from narrative analysis of a parent study that investigated ecological systems affecting 21 pregnant Puerto Rican women residing in an impoverished and crime-ridden neighborhood in Philadelphia. Content analysis of interviews revealed interwoven social determinants of health embedded in participant narratives. Furthermore, we present case vignettes based on integration of participant interviews that encapsulate the everyday experiences of these women and their families and provide clinicians with guidance and strategies for interacting with and advocating for this population.

The impact of Hurricane María on the political participation of Puerto Rican University students in UPR Cayey.

This research paper focuses on the political participation of students from the University of Puerto Rico in Cayey (UPR-Cayey) after Hurricane María. The culture, perspective, politics, and resistance of these students are researched in light of other sub-contexts, such as the protests pressuring the former governor of Puerto Rico Ricardo Rosselló to resign. The ages of the participants ranged from 19 to 23 years old; they were all students from UPR-Cayey, and they were interviewed. The researchers are also students from the UPR-Cayey. The perspective of this research project is an anthropological one and uses analytical coding tools with interviews followed up with field notes from the protests of July 2019. We found that most of the people interviewed for this research project were very interested in the government's corruption and Puerto Rican resistance. Our investigation indirectly illustrates the aspects of our Puerto Rican culture that become salient during the protests.

Prospective Study of Plant-Based Dietary Patterns and Diabetes in Puerto Rican Adults.

BACKGROUND: Vegetarian-type dietary patterns have been associated with reducing the risk of developing diabetes and may function as an effective strategy for diabetes management. OBJECTIVES: We aimed to examine the associations between adherence to plant-based diet indices and the risk of developing diabetes in the Boston Puerto Rican Health Study. METHODS: Puerto Rican adults (n = 646), aged 45-75 y and free of diabetes at baseline, were included. Dietary intake was assessed via a validated FFQ. Three plant-based dietary indices were calculated: an overall plant-based diet index (PDI), a healthful plant-based diet index (hPDI), and an unhealthful plant-based diet index (uPDI). Incident diabetes was defined as fasting plasma glucose ≥ 126 mg/dL (7.0 mmol/L), glycated hemoglobin ≥ 6.5% (48 mmol/mol), or use of hypoglycemic agents during follow-up. Cox proportional hazards were used to evaluate associations between the dietary patterns and incidence of diabetes, adjusting for potential confounders, such as age, sex, socioeconomic status, lifestyle factors, obesity, total energy intake, depressive symptomatology, and plasma concentrations of lipids. RESULTS: During a mean of 4.2 y of follow-up, we identified 134 diabetes cases. After adjustment for covariates, higher hPDI was associated with lower risk of developing diabetes (adjusted HR for the highest compared with the lowest tertile: 0.54; 95% CI: 0.31, 0.94; P-trend = 0.03). In contrast, the PDI and uPDI were not significantly associated with the risk of diabetes (P-trend > 0.3 for both). CONCLUSIONS: The healthful plant-based dietary index, but not the total plant-based dietary index, was inversely associated with diabetes risk. These findings suggest that the quality of plant-based diets must be considered when recommending plant-based diets for the prevention of diabetes.This trial was registered at clinicaltrials.gov as NCT01231958.

Sufficient Plasma Vitamin C Is Related to Greater Bone Mineral Density among Postmenopausal Women from the Boston Puerto Rican Health Study.

BACKGROUND: Vitamin C may benefit bone as an antioxidant. OBJECTIVES: This cross-sectional study evaluated associations between dietary, supplemental, and plasma vitamin C with bone mineral density (BMD) among Puerto Rican adults. METHODS: Diet was assessed by food-frequency questionnaire (n = 902); plasma vitamin C, measured in fasting blood (n = 809), was categorized as sufficient (≥50 µmol/L), insufficient (20-49 µmol/L), or low (<20 µmol/L). Associations between vitamin C and BMD (measured by DXA) were tested, with false discovery rate correction for multiple comparisons, and interactions by smoking, sex, and estrogen status. Least-squares mean BMDs were compared across tertiles of diet and plasma vitamin C. RESULTS: Participants' mean age was 59 ± 7 y (range: 46-78 y), 72% were women, mean dietary vitamin C was 95 ± 62 mg/d, and plasma vitamin C ranged from 1.7 to 125 µmol/L. No associations were observed between dietary vitamin C and BMD (P-value range: 0.48-0.96). BMD did not differ by vitamin C supplement use (P-value range: 0.07-0.29). Total femur BMD was higher (P = 0.04) among plasma vitamin C-sufficient participants (mean: 1.06; 95% CI: 1.035, 1.076 g/cm2) compared with low plasma vitamin C participants (1.026; 0.999, 1.052 g/cm2) in adjusted models. Findings at the trochanter were similar (P = 0.04). Postmenopausal women without estrogen therapy, with sufficient plasma vitamin C, showed greater total femur BMD (1.004 ± 0.014 g/cm2) compared to those with low plasma vitamin C (0.955 ± 0.017 g/cm2; P = 0.001). Similar findings were observed at the trochanter (P < 0.001). No significant associations were observed among premenopausal women or those with estrogen therapy or men. Interactions with smoking status were not significant. CONCLUSIONS: Dietary vitamin C was not associated with BMD. Low plasma vitamin C, compared with sufficiency, was associated with lower hip BMD, particularly among postmenopausal women without estrogen therapy. Future research is needed to determine whether vitamin C status is associated with change in BMD or reduction in fracture risk.

Factors Associated with Up-to-Date Colonoscopy Use Among Puerto Ricans in New York City, 2003-2016.

BACKGROUND: Colorectal cancer is the second leading cause of cancer death among Hispanic Americans. Puerto Ricans are the second largest Hispanic subgroup in the USA and the largest in New York City, but little is known about predictors of colorectal cancer screening uptake in this population. AIMS: We used the New York City Community Health Survey, a population-based telephone survey, to investigate predictors of up-to-date colonoscopy use over time among Puerto Ricans aged ≥ 50 years in NYC. METHODS: We assessed the association between sociodemographic and medical factors and up-to-date colonoscopy use (defined as colonoscopy within the last 10 years) using univariable and multivariable logistic regression over six time periods: 2003-2005, 2006-2008, 2009-2010, 2011-2012, 2013-2014, and 2015-2016. RESULTS: On multivariable analysis, age ≥ 65 years (OR 1.64-1.93 over three periods) and influenza vaccination (OR 1.86-2.17 over five periods) were the two factors most consistently associated with up-to-date colonoscopy use. Individuals without a primary care provider (OR 0.38-0.50 over three periods) and who did not exercise (OR 0.49-0.52 over two periods) were significantly less likely to have an up-to-date colonoscopy. CONCLUSIONS: Older age, influenza vaccination, having a primary care provider, and exercise are independent predictors of up-to-date colonoscopy use among Puerto Ricans in NYC. Interventions to improve screening colonoscopy uptake among Puerto Ricans should be targeted to those aged 50-64 years and who do not have a primary care provider.

Ecological Systems Affecting Urban Childbearing Puerto Rican Women in the City of Philadelphia.

OBJECTIVES: The purpose of this study was to explore socio-ecological influences affecting the daily lives of urban, pregnant Puerto Rican women and factors negatively influencing their health seeking behaviors related to prenatal care. METHODS: Qualitative, descriptive methods were used including individual interviews and focus groups to obtain maximum understanding of the women's lives. The interviews and focus groups were conducted using a semi-structured interview guide based on various components of the study's conceptual framework. Content analytic strategies included rigorous and systematic processes to increase trustworthiness: training, supervision, audits, electronic technologies, and ongoing input of the research team. RESULTS: Factors on all levels of the study's conceptual framework compound the effects of stressors and restrictions on the lives of urban, childbearing Puerto Rican woman. The intersectionality of issues for Puerto Rican women can either mitigate or heighten the pressure on their daily lives. CONCLUSIONS: This initial research sets the groundwork for further studies, such as narrative analysis, to better understand how to build appropriate and relevant interventions. Uncovering the women's stories gives them the opportunity to be a critical part of cross-sector partnerships towards the development of sustainable interventions.

An Integrated Historical Trauma and Posttraumatic Growth Framework: a Cross-Cultural Exploration.

Trauma recovery for racial and ethnic groups experiencing ongoing systemic violence and discrimination requires a framework that simultaneously addresses harms and strengths. Historical trauma (HT) is a social determinant of health emanating from targeted mass group-level harm. Posttraumatic growth (PTG) focuses on positive shifts in individuals coping with trauma. This article highlights the unique contributions of these two distinct bodies of literature to inform trauma recovery. We explore areas of overlap, gaps, and tensions between the concepts to present an HT-PTG conceptual framework. The HT-PTG framework combines HT's focus on socio-structural-historical experiences in racial and ethnic groups targeted for oppression with PTG's descriptions of characteristics of growth. Specifically, five mass group-level domains of growth, centering healing, creativity, growth, and transformation are described. The ancestral legacies of the authors, including American Indian, Indigenous Mexican, African American, Puerto Rican, and Indigenous Taiwanese, inform the HT-PTG framework. This paper presents implications for trauma-recovery research and practice.

Changes in Glycemic Load Are Positively Associated with Small Changes in Primary Stress Markers of Allostatic Load in Puerto Rican Women.

BACKGROUND: Puerto Ricans experience a high prevalence of type 2 diabetes. Dietary glycemic load (GL) and allostatic load (AL) have been linked with diabetes. AL, the wear and tear on the body from chronic stress, starts with secretion of primary stress markers from activation of the hypothalamic-pituitary-adrenal (HPA) axis, sympathetic nervous system (SNS), and immune system. GL can act as a physiological stressor, contributing to the primary AL response. OBJECTIVE: We examined the relation between GL and a composite score of primary stress markers of AL in Puerto Rican adults. METHODS: Data were from the Boston Puerto Rican Health Study, a cohort study of Puerto Ricans, aged 45-75 y, including 262 men and 697 women with complete data at baseline and 2-y follow-up. GL was calculated from dietary intake obtained with an FFQ. Sex-specific composite primary AL scores included markers of the HPA axis (cortisol and dehydroepiandrosterone sulfate), SNS (epinephrine and norepinephrine), and immune system (C-reactive protein). Linear regression models were stratified by sex and adjusted for covariates. RESULTS: Mean ± SD baseline GL score was 155 ± 28 for men and 135 ± 34 for women. Mean primary stress AL score was 1.25 ± 1.14 for men and 1.25 ± 1.06 for women. GL was not associated with AL score in men. In women, increasing GL from baseline to 2 y was significantly associated with increasing AL, after adjusting for sociodemographics, physical activity, smoking, BMI, menopause, and baseline AL score (ß = 0.03; P = 0.049). Results became marginally significant after further adjustment for chronic diseases (P = 0.06) and intake of fats (P values: saturated fats = 0.08; trans fats = 0.06; unsaturated fats = 0.07), but the magnitude of the association remained unchanged. CONCLUSIONS: Increasing GL over 2 y was positively associated with increasing composite score of primary markers of AL in Puerto Rican women. More studies are needed to confirm our findings.

Serum Vitamin D and Depressive Symptomatology among Boston-Area Puerto Ricans.

BACKGROUND: Low vitamin D status, assessed using serum 25-hydroxyvitamin D [25(OH)D] concentration, has been associated with depression, but research among minority populations, such as Puerto Ricans is limited. We examined the association between serum 25(OH)D and self-reported depressive symptomatology across 3 waves of follow-up in a cohort of Puerto Rican adults residing in Massachusetts. OBJECTIVES: We evaluated the cross-sectional and longitudinal associations between serum 25(OH)D and self-reported depressive symptoms in the Boston Puerto Rican Health Study (BPRHS) cohort. METHODS: Participants of the BPRHS were evaluated for depressive symptoms using the Center for Epidemiologic Studies Depression Scale (CES-D). Serum 25(OH)D was measured at baseline (n = 1434), year 2 (n = 1218), and year 5 (n = 914). We categorized serum 25(OH)D concentration as sufficient (≥20 ng/mL), insufficient (12 to <20 ng/mL), and deficient (<12 ng/mL). Multivariable linear regression was used for cross-sectional analyses at baseline, and repeated measures mixed effects modeling was used over 3 waves of follow-up for longitudinal analyses. We conducted sensitivity analyses in vitamin D supplement nonusers and participants with complete data on baseline serum 25(OH)D and CES-D at all 3 visits. RESULTS: Serum 25(OH)D concentration was not associated with CES-D score in cross-sectional analysis [ß = -0.85; 95% CI: -2.80, 1.10 for deficient compared with sufficient 25(OH)D; P-trend = 0.59] or in longitudinal analyses over 5 y [ß = -0.41; 95% CI: -1.95, 1.13 for deficient compared with sufficient 25(OH)D; P-trend = 0.93]. Results were similar in sensitivity analyses restricted to vitamin D supplement nonusers (n = 1371) and in analyses conducted in participants with complete measures of baseline serum 25(OH)D and CES-D score at all 3 visits (n = 887) [ß = -0.12; 95% CI: -1.98, 1.74 for deficient compared with sufficient 25(OH)D; P-trend = 0.93]. CONCLUSIONS: We did not observe a significant association between serum 25(OH)D and depressive symptomatology in the BPRHS cohort.

Mediterranean Diet Adherence Modulates Anthropometric Measures by TCF7L2 Genotypes among Puerto Rican Adults.

BACKGROUND: Transcription factor 7-like 2 (TCF7L2) genetic variants that predispose individuals to type 2 diabetes (T2D) show inconsistent associations with anthropometric traits. Interaction between TCF7L2 genotypes and dietary factors may help explain these observations. OBJECTIVE: We aimed to examine the potential modulation of TCF7L2-rs7903146 and rs12255372 on anthropometric markers by a Mediterranean diet (MedDiet). METHODS: Cross-sectional analysis was conducted in 1120 participants (aged 45-75 y) of the Boston Puerto Rican Health Study. Anthropometric variables were measured, and polymorphisms were genotyped using standardized protocols. Diet was assessed using a validated FFQ. The MedDiet was defined based on adherence to 9 food and nutrient components using sex-specific population-based median cut-offs; high adherence was defined as meeting ≥4 components. Haplotypes were tested for association with obesity traits, independently and via interaction with the MedDiet. RESULTS: TCF7L2-rs7903146 showed significant interaction with the MedDiet influencing BMI, weight, and waist circumference. The T risk-allele carriers (CT + TT) with a high MedDiet score had lower weight (77.3 ± 1.0 compared with CC 80.9 ± 1.0 kg; P = 0.013) and waist circumference (99.2 ± 0.9 compared with CC 102.2 ± 0.9 cm; P = 0.021), when compared with CC participants. A low MedDiet score resulted in no significant differences between genotypes. For TCF7L2-rs12255372, we found significant interactions with the MedDiet for weight (P-interaction = 0.034) and BMI (P-interaction = 0.036). The T allele carriers with a higher MedDiet score showed a trend of lower but no significant differences when compared with CC participants for BMI (P = 0.19), weight (P = 0.09), and waist circumference (P = 0.11). We found significant interactions between the 2 risk-carrying haplotypes and the MedDiet compared with the common haplotype (GC), with lower BMI (ß ± SE, TT: -1.53 ± 0.68; P-interaction = 0.024), weight (TT: -4.16 ± 1.77; P-interaction = 0.019), and waist circumference (GT: -5.07 ± 2.50; P-interaction = 0.042) at a high MedDiet score. CONCLUSION: Puerto Ricans with the TCF7L2-rs7903146 and rs12255372 T2D risk genotypes, although still high, had better anthropometric profiles when adhering to a MedDiet, suggesting that this diet may offset unfavorable genetic predisposition.

The association between etiology of hepatocellular carcinoma and race-ethnicity in Florida.

BACKGROUND AND AIM: The incidence of hepatocellular carcinoma (HCC) has risen considerably in the US since 1980. The main causes include metabolic disorders (NAFLD, diabetes, obesity, metabolic syndrome), alcohol-related disease (ALD) and hepatitis C and B virus infections (HCV, HBV). Etiology-specific HCC incidence rates by detailed race-ethnicity are needed to improve HCC control and prevention efforts. METHODS: All HCC cases diagnosed in Florida during 2014-2015 were linked to statewide hospital discharge data to determine etiology. Age-specific and age-adjusted rates were used to assess the intersection between etiology and detailed racial-ethnicities, including White, African American, Afro-Caribbean, Asian, Cuban, Puerto Rican and Continental Hispanic (Mexican, South and Central American). RESULTS: Of 3666 HCC cases, 2594 matched with discharge data. HCV was the leading cause of HCC among men and women (50% and 43% respectively), followed by metabolic disorders (25% and 37%) and ALD (16% and 9%). Puerto Rican and African American men had the highest HCV-HCC rates, 7.9 and 6.3 per 100 000 respectively. Age-specific rates for HCV-HCC peaked among baby boomers (those born in 1945-1965). Metabolic-HCC rates were highest among populations above age 70 and among Continental Hispanics. Afro-Caribbean men had high rates of HBV-HCC, whereas Puerto Rican men had high ALD-HCC. CONCLUSIONS: HCC etiology is associated with specific race/ethnicity. While HCV-related HCC rates are projected to decrease soon, HCC will continue to affect Hispanics disproportionately, based on higher rates of metabolic-HCC (and ALD-HCC) among Continental Hispanics, who demographically represent 80% of all US Hispanics. Multifaceted approaches for HCC control and prevention are needed.

Pre-hurricane linkages between poverty, families, and migration among Puerto Rican-origin children living in Puerto Rico and the United States.

Puerto Rican children comprise a historically vulnerable group that has garnered little attention from academics and policy makers. Then, Hurricanes Irma and Maria devastated the already impoverished island of Puerto Rico in 2017. It is imperative to understand the demographic, social, and economic patterns of Puerto Ricans in the past decade, in order to assess the true impact of the destructive 2017 hurricanes on Puerto Rican children and their families, and identify ways to address current population needs. This study fills this gap in the literature by providing recent pre-hurricane socioeconomic outcomes of Puerto Rican-origin children in Puerto Rico and the United States. It applies an origin-destination framework by relying on American Community Survey and Puerto Rico Community Survey data from 2012 to 2016. The analyses consider the linkages among family migration experiences, children's living arrangements, and household poverty levels. The findings are evaluated regarding prior research.

Short-and medium-term associations of particle number concentration with cardiovascular markers in a Puerto Rican cohort.

Air pollution has been linked to adverse cardiovascular outcomes; however, susceptibility may vary by population. Puerto Rican adults living in the US may be a susceptible group due to a high rate of adverse cardiovascular events. We evaluated the effect of changes in ambient particle number concentration (PNC, a measure of ultrafine particles) and effects on biomarkers of cardiovascular risk in the Boston Puerto Rican Health Study (BPRHS), a longitudinal cohort (n = 1499). Ambient PNC was measured at a fixed site between 2004 and 2013 and daily mean concentrations were used to construct PNC metrics, including lags of 0, 1 and 2 days and moving averages (MAs) of 3, 7 and 28 days. We examined the association of each metric with C-reactive protein (CRP) and blood pressure. Each model included subject-specific random intercepts to account for multiple measurements. An interquartile range (IQR) increase in PNC was associated with CRP for all metrics, notably a 3-day increase in PNC was associated with a 7.1% (95% CI: 2.0%, 12.2%) increase in CRP. Significant associations with CRP were seen in women, but not men; with current and former (but not non-) smokers; participants younger (but not older) than 65 y; those without diabetes (but not with), and those with (but not without), hypertension. Our study extends knowledge about the health effects of air pollution to a vulnerable population that has been understudied.

Dietary fat modulation of hepatic lipase variant -514 C/T for lipids: a crossover randomized dietary intervention trial in Caribbean Hispanics.

The hepatic lipase (LIPC) locus is a well-established determinant of high-density lipoprotein cholesterol (HDL-C) concentrations, an association that is modified by dietary fat in observational studies. Dietary interventions are lacking. We investigated dietary modulation of LIPC rs1800588 (-514 C/T) for lipids and glucose using a randomized crossover design comparing a high-fat Western diet and a low-fat traditional Hispanic diet in individuals of Caribbean Hispanic descent (n = 42, 4 wk/phase). No significant gene-diet interactions were observed for HDL-C. However, differences in dietary response according to LIPC genotype were observed. In major allele carriers (CC/CT), HDL-C (mmol/l) was higher following the Western diet compared with the Hispanic diet: phase 1 (Western: 1.3 ± 0.03; Hispanic: 1.1 ± 0.04; P = 0.0004); phase 2 (Western: 1.4 ± 0.03; Hispanic: 1.2 ± 0.03; P = 0.0003). In contrast, HDL-C in TT individuals did not differ by diet. Only major allele carriers benefited from the higher-fat diet for HDL-C. Secondarily, we explored dietary fat quality and rs1800588 for HDL-C and triglycerides (TG) in a Boston Puerto Rican Health Study (BPRHS) subset matched for diabetes and obesity status (subset n = 384). In the BPRHS, saturated fat was unfavorably associated with HDL-C and TG in rs1800588 TT carriers. LIPC rs1800588 appears to modify plasma lipids in the context of dietary fat. This new evidence of genetic modulation of dietary responses may inform optimal and personalized dietary fat advice and reinforces the importance of studying genetic markers in diet and cardiometabolic health.

Strong Amerindian Mitonuclear Discordance in Puerto Rican Genomes Suggests Amerindian Mitochondrial Benefit.

A large discrepancy between the Amerindian contribution to the mitochondrial and nuclear genetic components of 55 Puerto Rican (PR) genomes from the 1000 Genomes Project is identified, with Amerindian mitochondrial haplotypes being highly represented (67.3%), in strong contrast to the Amerindian autosomal contribution (12.9%). I examine the potential causes behind this strong mitonuclear discordance. The Amerindian contribution to the X chromosome is 19.8%, implying assortative mating with Amerindian females during the establishment of the PR population. However, this scenario does not account for the extraordinarily high Amerindian mitochondrial contribution. Demographic simulation of simple assortative mating scenarios during establishment of the PR population indicates that the observed Amerindian mitochondrial contribution is higher than expected. The simulations show that expansion from a small founding population does not produce the observed frequencies, instead producing the frequencies expected under neutrality, with the Amerindian mitochondrial frequencies approximately twice the Amerindian autosomal proportion. In addition, multiple replicated simulations show that drift is an unlikely explanation for the elevated Amerindian mitochondrial frequency, as these are unable to produce the elevated Amerindian mitochondrial frequency observed in the PR genomic dataset, under a range of different starting conditions. I conclude that the mitonuclear discordance appears most consistent with adaptive mitochondrial benefit; however, the molecular mechanism(s) remain to be characterized before this can be confirmed and warrant further investigation. Lastly, I show potential evidence of selection on autosomes and allosomes, using admixture proportions. Interestingly, the major histocompatibility complex locus on chromosome 6 shows greatly elevated single nucleotide polymorphism density but is unaccompanied by strong admixture variance. The observations on mitonuclear discordance may affect the interpretation of apparent assortative mating in recent human admixture events, which should be treated with caution when relying only on mitochondrial haplotype frequencies.

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). Here we present two non-Native American families, who were found to have STAC3 pathogenic variants. The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis. We identified the homozygous c.851G>C;p.Trp284Ser variant in STAC3 in both sisters. The second proband and his affected sister are from a non-consanguineous, Puerto Rican family who was evaluated for a possible diagnosis of Moebius syndrome (MBS). His features included facial and generalized weakness, minimal limitation of horizontal gaze, cleft palate, and hypotonia, and he has a history of MH. The siblings were identified to be compound heterozygous for STAC3 variants c.851G>C;p.Trp284Ser and c.763_766delCTCT;p.Leu255IlefsX58. Given the phenotypic overlap of individuals with CFZS, MBS, and NAM, we screened STAC3 in 12 individuals diagnosed with CFZS and in 50 individuals diagnosed with MBS or a congenital facial weakness disorder. We did not identify any rare coding variants in STAC3. NAM should be considered in patients presenting with facial and generalized weakness, normal or mildly abnormal extraocular movement, hypotonia, cleft palate, and scoliosis, particularly if there is a history of MH.