Recent genetic selection in the ancestral admixture of Puerto Ricans

Recent studies have used dense markers to examine the human genome in ancestrally homogeneous populations for hallmarks of selection. No genomewide studies have focused on recently admixed groups--populations that have experienced admixing among continentally divided ancestral populations within the past 200-500 years. New World admixed populations are unique in that they represent the sudden confluence of geographically diverged genomes with novel environmental challenges. Here, we present a novel approach for studying selection by examining the genomewide distribution of ancestry in the genetically admixed Puerto Ricans. We find strong statistical evidence of recent selection in three chromosomal regions, including the human leukocyte antigen region on chromosome 6p, chromosome 8q, and chromosome 11q. Two of these regions harbor genes for olfactory receptors. Interestingly, all three regions exhibit deficiencies in the European-ancestry proportion.     

Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome.

Hermansky-Pudlak syndrome (HPS) consists of ocu-locutaneous albinism, a platelet storage-pool deficiency, and ceroid lipofuscinosis. In a recent report on the cloning of an HPS gene, all 22 Puerto Rican HPS patients were homozygous for a 16-bp duplication in exon 15. This presumably reflected a founder effect for the HPS mutation in Puerto Rico. Nevertheless, we ascertained two individuals from central Puerto Rico who lacked the 16-bp duplication, exhibited significant amounts of normal-size HPS mRNA by northern blot analysis, and had haplotypes in the HPS region that were different from the haplotype of every 16-bp-duplication patient. Moreover, these two individuals displayed no mutations in their cDNA sequences, throughout the entire HPS gene. Both patients exhibited pigment dilution, impaired visual acuity, nystagmus, a bleeding diathesis, and absent platelet dense bodies, confirming the diagnosis of HPS. These findings indicate that analysis of Puerto Rican patients for the 16-bp duplication in HPS cannot exclude the diagnosis of HPS. In addition, HPS most likely displays locus heterogeneity, consistent with the existence of several mouse strains manifesting both pigment dilution and a platelet storage-pool deficiency.     

Gender differences in a cohort of Puerto Ricans with systemic lupus erythematosus.

Variations in systemic lupus erythematosus (SLE) clinical manifestations, serologies and outcomes have been related to gender differences. However, these associations have not been evaluated in Puerto Ricans. A cross-sectional study was performed in a cohort of 235 Puerto Rican SLE patients. Clinical variables, autoantibodies, SLICC/ACR damage index and mortality rate were determined. Of the 235 SLE patients, 12 (5%) were males. Male and female patients were similar with respect to age, disease duration and follow up. Men were more likely to have pericardial effusion (41% vs 5%, p<0.01), pleural effusion (58% vs 10%, p<0.01), proteinuria (>0.5 g/24 hr) (58% vs 24%, p=0.02), renal insufficiency (42% vs 11%, p<0.01) and end-stage renal disease (33% vs 6%, p<0.01) than women. Anti-Sm antibodies (60.0% vs 13%, p<0.01) and anti-snRNP antibodies (56% vs 21%, p=0.03) were more prevalent in men. SLICC/ACR mean damage index (2.7 +/- 2.7 vs 1.0 +/- 1.6, p<0.01) and mortality rate (25% vs 4.5%, p=0.02) were higher in men. In conclusion, male SLE patients of this cohort had higher prevalence of serositis and renal involvement than women. They also had a poorer outcome, presenting higher disease damage and mortality.     

The influence of early conditions on health status among elderly Puerto Ricans

Abstract

The demographic origins of aging in Puerto Rican and other Latin American and Caribbean (LAC) countries may have important implications for the profile of health status and mortality of elderly people. For this article we tested a general conjecture about the relation between early childhood conditions and adult health status among Puerto Rican elderly using a rich data set recently collected through an island‐wide survey (N=4,293). We examined the association between markers of early nutritional status, self‐reports of health and on socioeconomic conditions during early childhood, and the prevalence of 3 conditions during adult ages: obesity, diabetes, and cardiovascular diseases. Although we found that obesity and diabetes are associated with markers of early malnutrition, that heart disease is associated with early deprivations and selected early childhood conditions, the evidence we were able to tease out from the data provides only fragile support for the conjecture.     

The influence of early conditions on health status among elderly Puerto Ricans

The demographic origins of aging in Puerto Rican and other Latin American and Caribbean (LAC) countries may have important implications for the profile of health status and mortality of elderly people. For this article we tested a general conjecture about the relation between early childhood conditions and adult health status among Puerto Rican elderly using a rich data set recently collected through an island-wide survey (N = 4,293). We examined the association between markers of early nutritional status, self-reports of health and on socioeconomic conditions during early childhood, and the prevalence of 3 conditions during adult ages: obesity, diabetes, and cardiovascular diseases. Although we found that obesity and diabetes are associated with markers of early malnutrition, that heart disease is associated with early deprivations and selected early childhood conditions, the evidence we were able to tease out from the data provides only fragile support for the conjecture.     

Riding the perennial gale: working-class Puerto Ricans and the involution of colonial capitalism

Hurricane María devastated Puerto Rico in September 2017, deepening an already dire economic situation and amplifying an ongoing wave of out-migration. In the age of permanent man-made climate change, hurricanes, like extended economic crises, are “big events” produced by the capitalist despoiling of nature and labor, further exposing the dispossessed and displaced to structural violence. A colony of the USA since 1898, perhaps Puerto Rico has now once again “changed forever,” as the popular belief goes in the wake of María. If so, these changes will continually be experienced and enacted differently by subjects unevenly positioned in terms of unequal relationships of power and privilege. I propose an empirically informed research orientation that examines the situation of contemporary working-class Puerto Ricans in terms of their strategic responses to the involution of colonial capitalism. As a dimension of social life, working-classness is not contracting but expanding, in the context of an ongoing “debt crisis” better understood in terms of the self-consumption, or involution, of the modality of colonial capitalism established in Puerto Rico in the 1940s. In this light, strategic actions of working-class Puerto Ricans such as migration, informal labor, and subsistence/domestic production are not evidence of alternate modes of being, but part of the very conditions of working-classness today. I conclude by briefly identifying three areas for future research to flesh out the proposed orientation, focusing in the immediate term on responses to María by working-class communities in the island and the diaspora, in interaction with local and US elites.     

HCV genotype analysis in HCV-HIV-co-infected Puerto Ricans who are injecting drug users: undetermined and mixed infections.

Direct percutaneous exposure is the main route of HCV transmission. In Puerto Rico half of people infected with HIV use illicit drugs. The effects of HCV in the course of HIV infection and vice versa have been extensively studied, but remain highly controversial. This may be due to HCV genetic heterogeneity. Therefore, a complex classification into genotypes has emerged that prompted us to determined how this impacts a population of intravenous drug users (IDUs) co-infected with HIV-1. Using Inno-LiPa II technique, we analyzed samples from 171 HCV-HIV-1-co-infected IDUs and 375 from a general HCV population of unknown HIV or source of infection status. Similar HCV genotype distribution was detected in these populations. HCV genotype 1a was the most frequently in IDUs-co-infected with HIV-1, followed by 1b and 3a. Twenty mixed infections and 5 undetermined genotypes were reported. A reduced HCV viral load was observed in HIV-1 positives with wasting syndrome. Individuals with a high HIV-1 viral load presented a low HCV viral load. There were no correlation between HCV genotypes and AIDS-related event. Patients with genotype 1b showed a higher HCV viral load. Males presented higher HCV viral load than females. Females were predominantly affected by genotype 1a, and men by 1a and 1b. Neither the HCV viral load nor the frequency of genotypes were influenced by the antiretroviral modality. The importance of continuous genotype monitoring is stressed.     

Reconstructing population history using JC virus: Amerinds, Spanish, and Africans in the ancestry of modern Puerto Ricans.

The roots of the Hispanic populations of the Caribbean Islands and Central and South America go back to three continents of the Old World. In Puerto Rico major genetic contributions have come from (1) Asians in the form of the aboriginal Taino population, an Arawak tribe, present when Columbus arrived on the Island, (2) Europeans, largely Spanish explorers, settlers, government administrators, and soldiers, and (3) Africans who came as part of the slave trade. Since JC virus (JCV) genotypes characteristic of Asia, Europe, and Africa have been identified, and excretion of JCV in urine has been proposed as a marker for human migrations, we sought to characterize the JCV strains present in a Caribbean Hispanic population. We found that the strains of JCV present today in Puerto Rico are those derived from the Old World populations represented there: Types 1B and 4 from Spain, Types 3A, 3B, and 6 from Africa, and Type 2A from Asia. The Type 2A genotype represents the indigenous Taino people. This JCV genotype was represented much more frequently (61%) than would be predicted by the trihybrid model of genetic admixture. This might be attributable to characteristics of JCV Type 2A itself, as well as to the nature of the early relationships between Spanish men and native women. These findings indicate that the JCV strains carried by the Taino Indians can be found in today's Puerto Rican population despite the apparent demise of these people more than two centuries ago. Therefore, molecular characterization of JCV provides a tool to supplement genetic techniques for reconstructing population histories including admixed populations.     

Minnesota Twin Family Study.

The Minnesota Twin Family Study is a longitudinal study of 11-year-old and 17-year-old twins and their parents designed to examine factors related to the etiology of substance abuse and related problems. At study intake, the twins and their parents participate in a day-long assessment in our laboratory that includes measures of endophenotypes (e.g., event-related potentials, EEG, autonomic nervous system reactivity, startle eye-blink), psychopathology, personality, cognitive ability, anthropometry, and environmental risk/protective factors. DNA derived from blood is also collected. A parallel longitudinal study of adolescent adoptive siblings, biologically related siblings, and their parents is also underway. Over 1500 twin families and 350 adoptive and biological sibling families have already entered the longitudinal phase of the study. This article provides an overview of study methods, highlights published findings, and describes procedures in place to foster collaboration with other investigators.     

Comparisons for Body Mass Index and Body Fat Percent Among Puerto Ricans,Blacks, Whites and Asians Living in the New York City Area

The latest data (NHANES III) from the National Center for Health Statistics (NCHS) show that the black population has the highest proportion of overweight among all adult populations in the United States. The present study compared the body mass index (BMI) and body fat percent from dual-photon absorptiometry in 1,324 healthy adults aged 18 to 107 years recruited from four ethnic groups in the New York City area; 523 whites, 280 blacks, 267 Asians and 254 Puerto Ricans. Puerto Ricans had the largest BMI and the largest percent of subjects with body weight more than 120% of their ideal weight, and the largest fat percent of the four ethnic groups: 76% of Puerto Rican males had fat percent above the median value for white males (fat percent = 19.6%) and 95% of Puerto Rican females had fat percent above the median for white females (fat percent = 30.8%). Asians had the smallest BMI, but 63% of them had fat percent above the median values for whites in each gender. Puerto Ricans also had the largest waist-to-hip ratios among the four ethnic groups. In blacks, the percent of subjects with fat percent larger than the median for whites was slightly smaller than that for Puerto Ricans, 64% and 82% of males and females respectively. These results differ from the latest NCHS data and show that Puerto Ricans in this sample are heavier and fatter than blacks.     

<Emphasis Type="Italic">Ataques De Nervios</Emphasis> In Relation to Anxiety Sensitivity Among Island Puerto Ricans

This study investigated the symptom profile of ataques de nervios (ADN) among Puerto Rican volunteers from the community who self-identified as having experienced at least one ataque. As expected, the most commonly reported ataques-specific symptoms were crying, anger, nervousness, and becoming hysterical. Comparing the responses of those with ADN to those with no history of ADN but who reported elevated anxiety sensitivity (AS) indicated that both groups were comparable on measures of depression, state and trait anxiety, and associated panic symptoms. As expected, both groups scored significantly higher on all measures than did participants with no history of ADN and low AS with the exception of the measure of state anxiety. It is unclear, however, whether the overlap in symptom severity between those with ADN and those with elevated anxiety sensitivity indicates that ADN and AS are the same or distinct conditions.