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Low and differential polygenic score generalizability among African populations due largely to genetic diversity.

African populations are vastly underrepresented in genetic studies but have the most genetic variation and face wide-ranging environmental exposures globally. Because systematic evaluations of genetic prediction had not yet been conducted in ancestries that span African diversity, we calculated polygenic risk scores (PRSs) in simulations across Africa and in empirical data from South Africa, Uganda, and the United Kingdom to better understand the generalizability of genetic studies. PRS accuracy improves with ancestry-matched discovery cohorts more than from ancestry-mismatched studies. Within ancestrally and ethnically diverse South African individuals, we find that PRS accuracy is low for all traits but varies across groups. Differences in African ancestries contribute more to variability in PRS accuracy than other large cohort differences considered between individuals in the United Kingdom versus Uganda. We computed PRS in African ancestry populations using existing European-only versus ancestrally diverse genetic studies; the increased diversity produced the largest accuracy gains for hemoglobin concentration and white blood cell count, reflecting large-effect ancestry-enriched variants in genes known to influence sickle cell anemia and the allergic response, respectively. Differences in PRS accuracy across African ancestries originating from diverse regions are as large as across out-of-Africa continental ancestries, requiring commensurate nuance.

Humans↗

Allelic configuration and polysomic inheritance of highly variable microsatellites in tetraploid gynodioecious Thymus praecox agg.

Polyploidy plays a pivotal role in plant evolution. However, polyploids with polysomic inheritance have hitherto been severely underrepresented in plant population genetic studies, mainly due to a lack of appropriate molecular genetic markers. Here we report the establishment and experimental validation of six fully informative microsatellite markers in tetraploid gynodioecious Thymus praecox agg. Sequence data of 150 microsatellite alleles and their flanking regions revealed high variation, which may be characteristic for polyploids with a reticulate evolutionary history. Understanding the patterns of mutation (indels and substitutions) in microsatellite flanking-sequences was a prerequisite for the development of co-dominant markers for fragment analyses. Allelic segregation patterns among progeny arrays from ten test crosses revealed tetrasomic inheritance in T. praecox agg. No evidence of frequent double reduction was detected. Polymerase chain reaction (PCR) based dosage effects allowed for precise assignment of allelic configuration at all six microsatellite loci. The quantification of allele copy numbers in PCR was verified by comparisons of observed and expected gametic allele frequencies and heterozygosities in test crosses. Our study illustrates how PCR based markers can provide reliable estimates of heterozygosity and, thus, powerful tools for breeding system and population genetic analyses in polyploid organisms.

Alleles↗

Integrated exome and mitochondrial genome sequencing reveals the genetic landscape of primary mitochondrial diseases: findings from a large Tunisian cohort.

Primary mitochondrial diseases are a heterogeneous group of neurometabolic disorders recognized as the most common metabolic genetic diseases. They manifest at any age, affecting any tissue or organ, especially those with high energy demands, and are caused by pathogenic variants in both mitochondrial and nuclear genomes. Here, we aimed to describe the genetic spectrum of a Tunisian pediatric cohort with suspected mitochondrial diseases. We recruited 47 unrelated families who underwent exome sequencing as a first-tier test followed by whole mitochondrial genome sequencing for unsolved cases. Dedicated bioinformatic pipelines and prediction tools were used to determine the potential disease-causing variants. Sanger sequencing confirmed the presence and segregation within parents. For the newly identified variants, structural modeling was conducted to study the impact of these variants on protein structure and motions. Dual genome sequencing yielded a molecular diagnosis in 33/47 families (70%) and 18/47 (38%) showed disease-causing variants in genes encoding mitochondrial proteins. Among them, four families disclosed novel variants in FASTKD2, SERAC1 and GATB, which were supported by in-depth in silico and structural analyses demonstrating their deleterious effect. The remaining families (32%, 15/47) disclosed other metabolic and neurological disorders. An exome-first strategy delivers a high diagnostic yield in Tunisia, where consanguinity remains high and simultaneously captures mitochondrial and non-mitochondrial etiologies. Mitochondrial sequencing remains indispensable in the case of an inconclusive exome. Thus, our data expand the clinical and genetic spectrum of primary mitochondrial diseases in Tunisia, an underrepresented and admixed population.

Humans↗

Transcript-guided targeted cell enrichment for scalable single-nucleus RNA sequencing.

Large-scale single-cell atlases have revealed many aging- and disease-associated cell types, yet these populations are often underrepresented in heterogeneous tissues, limiting detailed molecular analyses. To address this, we developed EnrichSci-a scalable, microfluidics-free platform that combines hybridization chain reaction RNA fluorescence in situ hybridization (FISH) with combinatorial indexing to profile single-nucleus transcriptomes of target cell types with full gene-body coverage. Applied to oligodendrocytes in the aging mouse brain, EnrichSci uncovered aging-associated molecular dynamics across distinct oligodendrocyte subtypes, revealing both shared and subtype-specific gene expression changes. Additionally, we identified aging-associated exon-level signatures missed by conventional gene-level analyses, highlighting post-transcriptional regulation as a critical dimension of cell-state dynamics in aging. By coupling transcript-guided enrichment with a scalable sequencing workflow, EnrichSci provides a versatile approach to decode dynamic regulatory landscapes in diverse cell types from complex tissues.

Animals↗

Blood-based biomarkers of Alzheimer's disease and neurodegeneration in an indigenous African cohort using both Simoa and NULISA platforms.

In low- and middle-income countries, Alzheimer's disease (AD) constitutes a growing public health burden. However, AD biomarkers research remains underrepresented in African populations. This study assesses core biomarkers of AD and their relevance in the African context as potential aid in clinical diagnosis. Nigerian older adults from VALIANT cohort (n&#x2009;=&#x2009;967) underwent biomarker quantification in plasma (p-tau217, GFAP, NfL, A&#x3b2;42 and A&#x3b2;40) employing both the Single Molecule Assay (Simoa, Quanterix) and Nucleic acid-Linked Immuno-Sandwich Assay (NULISA, Alamar). Biomarkers were associated with disease severity in clinical-diagnostic and clinical-biological groups, with stepwise increases of p-tau217, NfL and GFAP from cognitively unimpaired to dementia (p&#x2009;<&#x2009;0.05). Results were consistent across platforms. Comparison between sexes showed higher biomarker levels in male participants across diagnostic groups. A significant effect of apoE-E4 proteotype on p-tau217 levels, after adjusting for age and sex was identified. These findings support the application of plasma AD biomarkers in the African context and the relevance of further AD biomarker research in diverse populations.

Biomarkers↗

Information and support needs of callers to the Cancer Helpline, the Cancer Council Victoria.

The broad aims of the present evaluation were, firstly, to describe the information and support needs of callers to a Cancer Helpline and, secondly, to describe the response of the service to these needs. A further aim was to use these results to develop strategies to improve the service. Anonymous caller information collected over a 6-year period was analysed. The setting of the study was the Cancer Helpline service operated by the Cancer Council Victoria within the state of Victoria, Australia. The caller profile was similar to that described in the literature, with the majority of callers being women, younger than the general cancer population and enquiring most commonly about breast cancer. Patients and their relatives called to obtain information about cancer diagnosis, treatment and management and to obtain psychological and emotional support. Callers received emotional support, were supplied with verbal and written information and were referred to a variety of support services. Some population groups are underrepresented in the data. Changes to the Helpline and other services over the 6-year period are described. The pattern of callers to the Cancer Helpline appears similar to that described in the USA and Europe. Many issues and challenges are common. The paper discusses additional strategies for meeting the information and support needs of those affected by cancer and describes current and suggested research areas.

Adult↗

NSCLC in Vulnerable and Special Populations: Toward Personalized Care.

NSCLC encompasses a heterogeneous patient population whose clinical needs, biological features, and treatment outcomes differ substantially from those represented in pivotal studies. Adolescents and young adults, women, pregnant patients, individuals with actionable genomic alterations or constitutional pathogenic variants, immunocompromised patients, including those with chronic viral infections, older adults, patients with brain metastases, and survivors with second primary lung cancers remain consistently underrepresented in research programs. This limits the generalizability of current evidence and challenges the delivery of equitable precision oncology. Across these populations, distinct disease biology, differential genomic landscapes, sex- and age-related variations in pharmacology, and complex psychosocial or ethical considerations shape clinical decision-making. Advances in molecular testing and targeted therapies have improved outcomes for some subgroups; however, persistent disparities in diagnostic access, trial eligibility, and supportive care remain major barriers. In parallel, modern systemic agents including brain-penetrant targeted therapies, immunotherapy combinations, and antibody-drug conjugates have broadened therapeutic options, although their safety, effectiveness, and long-term consequences require dedicated evaluation in underrepresented populations. This review synthesizes contemporary evidence from these special NSCLC populations, highlighting shared challenges and unique considerations. We discuss implications for clinical practice, supportive care, survivorship, and research design and outline opportunities to strengthen inclusivity in precision oncology. Addressing longstanding gaps in representation, trial methodology, and structural inequities is essential to ensure that recent therapeutic advances translate into improved outcomes for the full spectrum of patients living with NSCLC.

Humans↗

Susceptibility to ankylosing spondylitis is independent of the Bw4 and Bw6 epitopes of HLA-B27 alleles.

We have characterized HLA-B27 alleles in a sample of the population from the Azores (n=46) with the aim of investigating the contribution of different subtypes to ankylosing spondylitis (AS). The study was carried out using PCR-SSOP and in some samples genomic sequencing was conducted. Some significant new finding have arisen from this study. First, B*2705,B*2702,B*2703,B*2707 and B*2708 alleles were found to be represented in this population. The polymorphism of B27 alleles found in a sample of the population from the Azores is higher than the Caucasian groups described. B*2703 and B*2707 have not previously been described to be represented in Caucasians and this could indicate admixtures with different populations of the world. In addition, the B*2708 allele was found to be associated with AS in a large family from the Azores. This association has not been previously reported in either ethnic group and needs to be confirmed in other population studies. This is of considerable interest since has only been described as a rare subtype underrepresented in the British population and has not been previously found to be associated with AS. B*2708 carries the sequence specifying the Bw6 epitope in contrast to most B27 alleles which carry a Bw4 sequence. Differences in this region (residues 77-83) can alter the F-pocket and affect T-cell recognition. The importance that these molecular changes can play in the pathogenesis of AS is discussed.

Azores↗

Characteristics of youths identified from a psychiatric case register as first-time users of services.

OBJECTIVE: The study examined associations between sociodemographic factors and first-time use of mental health services by children and adolescents, including whether the patterns differ by age at first treatment contact. METHODS: The authors examined sociodemographic characteristics of 4,949 youths listed on a psychiatric case register in Monroe County, New York, who were under age 19 when first seen for public mental health treatment between 1987 and 1989. Data on race and type of insurance for patients in the county's four catchment areas were compared with 1980 census data. Insurance was categorized as public (such as Medicaid) or private and was used as a proxy for socioeconomic status. RESULTS: Both minority and publicly insured youths of low socio-economic status were overrepresented in the treatment population in relation to their numbers in the county, although publicly insured youths from the poorest catchment area were underrepresented in the treatment population. Among children (ages five to 12) in the treatment population, males outnumbered females by 2 to 1, but among adolescents (ages 13 to 18), the numbers were similar. Among minority groups, children receiving first-time mental health services were more likely to have public insurance. Minority adolescents were somewhat more likely to be privately than publicly insured.

Adolescent↗

Representation of the elderly, women, and minorities in heart failure clinical trials.

BACKGROUND: Appropriate representation of specific groups of patients in randomized controlled trials (RCTs) and generalizability of evidence obtained have been questioned. We sought to compare the characteristics of patients in heart failure (HF) RCTs with those of patients with HF in the community, and to document these trends over time. METHODS: MEDLINE was searched from 1985 through December 1999 for all HF RCTs. Additional trials were obtained through bibliographies of the reviewed articles, previous meta-analyses, and overviews of the HF trials. Original reports of RCTs of interventions for chronic HF were selected if they were published in the English language and included 50 or more participants. Publication year, sources of support, location of principal investigator, sample size, type of intervention, inclusion and exclusion criteria, characteristics of participants, and the use of invasive diagnostic tests were extracted. RESULTS: Participants in the 59 HF RCTs we reviewed were markedly different from the patients with HF in the community. Patients in RCTs were younger, more often male, more likely to have subnormal systolic ejection fraction, and were most commonly white. We did not find a significant improvement in the representation of the trials, with respect to these characteristics, among those published recently compared with those from the late 1980s and early 1990s. CONCLUSIONS: Clinical trials are focusing on a relatively small segment of the HF population. The consequences of underrepresenting minorities, women, and elderly are unknown but may be particularly important for HF. Future clinical trials should adequately include populations that carry the burden of the disease.

Aged↗

Kidney transplant outcomes in the indigenous population in the Northern Territory of Australia.

BACKGROUND: Indigenous Australians develop end-stage renal disease (ESRD) at a significantly higher rate than nonindigenous Australians. Renal transplantation is the preferred treatment modality; however, they are underrepresented in the transplanted population. In addition, despite the morbidity and mortality gains demonstrated in other patient groups, it is unclear whether such an advantage is replicated for indigenous Australians. We have sought to identify some of the factors that lead to poorer outcomes within this group of recipients. METHODS: We performed a retrospective analysis of a cohort of renal transplant recipients (indigenous and nonindigenous) from the Northern Territory of Australia. RESULTS: Indigenous patients waited longer on dialysis, were more sensitized at the time of transplantation, and the number of human leukocyte antigen mismatches was greater. Overall renal allograft survival is poorer among indigenous Australians (HR 4.13, 2.0-8.5, P<0.0001) with the majority of grafts lost due to recipient death. The most common cause of death was septicemia. Graft loss due to any cause has not been influenced by the absence of full-time specialist staff at major treatment centers. Infection rates are greatly increased in indigenous patients (RR 4.1, 95% CI 3.5-4.7, P<0.0001), in addition to the incidence of rejection (RR 2.5 95% CI 1.8-3.5, P<0.001) and hospitalization (RR 3.9, 95% CI 3.2-4.9, P<0.0001). There is increased steroid exposure among indigenous recipients. CONCLUSIONS: Indigenous recipients of cadaveric kidney transplants have worse outcomes than nonindigenous recipients, mostly due to increased mortality and morbidity from infective causes.

Adult↗

Application of the Behavioral Model to Health Studies of Asian and Pacific Islander Americans.

PURPOSE. The purpose of this study is to review the literature to synthesize empirical health services research on Asian and Pacific Islander American (APIA) populations. Health studies of APIA are summarized using the Behavioral Model of Health Care Utilization, which has been expanded for racial and ethnic groups. METHODS. The MEDLINE databases from 1980 to 1994 were searched for all studies focusing on APIA populations using selected key words. In addition, we searched for comparative studies of APIA with other ethnic groups. Screened studies were assigned codes based on the expanded Behavioral Model using information contained in the abstracts. PRINCIPAL FINDINGS. Although the _number_ of studies that have been published on APIA populations have increased over the past 15 years, the _proportion_ of studies that focus on specific subgroups of the population has decreased. The populations that are most understudied relative to their size are Koreans and Filipinos. Most of the studies included population characteristics and evaluated/clinical outcomes, while studies of preceived and consumer satisfaction outcomes were relatively infrequent. CONCLUSIONS. Given the rapid growth of the APIA population, this group is underrepresented in the published work. Studies are needed that determine cultural influences on health status and outcomes of the health care system for ethnic subgrups of the APIA population. KEY WORDS. Asian Americans; Pacific Islanders; Behavioral Model; Asian Indian; Cambodian; Chinese; Filipino; Guamanian; Hawaiian; Hmong; Indochinese, Japanese, Koreans, Laos; Laotian; Samoan; Southeast Asian; Thai; and Vietnamese.

Journal Article↗

Bridge to dentistry: one dental school's approach to improving its enrollment of underrepresented minorities.

Presently, 25.7% of the U.S. population is comprised of Blacks/African Americans, Hispanics, and Native Americans. The dental school enrollment of underrepresented minorities (URM) does not reflect this demographic distribution. In 1994, URM students comprised 12.68% of enrolled dental students, but in 1999, enrollment decreased to 10.53%. This trend is evident at Baylor College of Dentistry (BCD). Bridge to Dentistry involves formal linkages with local school districts, Texas colleges and universities, community organizations, dental clinics, community dentists, and BCD. The program is unique in that it targets students from kindergarten through dental school. The key components are awareness, attraction, preliminary education, facilitated-entry, admissions, financial aid, and retention. Some important features of the program are visits to area schools, visits to colleges and universities, summer enrichment programs, and academic advising. Preliminary results indicate the effectiveness of the program. BCD has increased its enrollment of URM students 325% over that of 1998. In 1998, 4.7% of the college's first-year student enrollment was URMs. In 2001, 14.6% of Baylor's first-year student enrollment was URMs. Since 1995, BCD has retained 90.6% of its URM students.

Black or African American↗

Evaluation of enterolithiasis in equids: 900 cases (1973-1996).

OBJECTIVE: To identify breed, age, sex, physical findings, history, and outcome of treatment in horses and other equids with enterolithiasis. DESIGN: Retrospective study. ANIMALS: 900 equids with enterolithiasis. PROCEDURE: Medical records from equids with enterolithiasis admitted between 1973 and 1996 were reviewed. Data on signalment, history, physical examination and clinicopathologic findings, surgical findings, and outcome were compiled from records and from telephone interviews with owners. Sex and breed predilections were determined by comparison of the study population with the general hospital population of equids during the same time period. RESULTS: Equids with enterolithiasis represented 15.1% of patients admitted for treatment colic, and 27.5% of patients undergoing celiotomy for treatment of colic. Arabian and Arabian crosses, Morgans, American Saddlebreds, and donkeys were significantly overrepresented, and Thoroughbreds, Standardbreds, warmbloods, and stallions were significantly underrepresented in the study population, compared with the hospital population. The mean age of equids with enterolithiasis was 11.4 years. The most common historic findings were signs of intermittent colic (33.3%) and passage of enteroliths in the feces (13.5%). Physical examination findings were similar to those found in equids with other forms of nonstrangulating large colon obstructive disease. Fifteen percent (131) developed gastrointestinal tract rupture caused by an enterolith that necessitated euthanasia. Short-term and 1-year survival rates for equids undergoing celiotomy for treatment of enterolithiasis and recovering from anesthesia were excellent (96.2 and 92.5%, respectively), and postoperative complications were uncommon. Recurrence of enterolithiasis was identified in 7.7% of the study population. CLINICAL IMPLICATIONS: Results indicated that shortterm and 1-year survival rates for equids undergoing surgery for enterolithiasis are excellent. Identification of signalment, history, and management factors may help identify equids with a high risk for development of enterolithiasis.

Age Factors↗

A report on accrual rates for elderly and minority-ethnicity cancer patients to clinical trials of the American College of Surgeons Oncology Group.

BACKGROUND: Incidence and mortality rates for cancers vary by ethnic background and patient age. Accrual of diverse patient populations to cancer clinical trials is essential in order to ensure that findings related to new management strategies can be generalized. The goal of this study was to evaluate accrual patterns for patients participating in the American College of Surgeons Oncology Group (ACOSOG) cancer protocols. Ethnic diversity among clinical trial investigators may also influence accrual patterns, so the ethnic background of the ACOSOG membership was also evaluated. STUDY DESIGN: Demographics for the patients registered on ACOSOG breast, thoracic, and colorectal clinical trials were evaluated and compared with data on the general population and the cancer population in the United States. Accrual patterns for patients from other reported cancer clinical trials were also presented, and the self-reported ethnic distribution of the ACOSOG membership was analyzed. RESULTS: Distribution of African Americans, Hispanic Americans, and Asian Americans to the ACOSOG breast and colorectal clinical trials was relatively proportionate to the cancer population. African Americans were underrepresented in the thoracic clinical trials, and this disparity was partially offset by data on the proportion of African Americans with stage-eligible lung cancer. Accrual rates for patients age 65 years and older were better than those reported by most other clinical trialists. CONCLUSIONS: Elderly patients are successfully recruited into surgical clinical trials, and this will provide important data for future analyses regarding cancer outcomes in this growing population of cancer patients. Aggressive outreach to minority-ethnicity cancer patients for accrual into clinical trials should continue.

Age Factors↗

Association of human aging with a functional variant of klotho.

Mice deficient in Klotho gene expression exhibit a syndrome resembling premature human aging. To determine whether variation in the human KLOTHO locus contributes to survival, we applied two newly characterized polymorphic microsatellite markers flanking the gene in a population-based association study. In a cohort chosen for its homogeneity, Bohemian Czechs, we demonstrated significant differences in selected marker allele frequencies between newborn and elderly individuals (P < 0.05). These results precipitated a search for functional variants of klotho. We identified an allele, termed KL-VS, containing six sequence variants in complete linkage disequilibrium, two of which result in amino acid substitutions F352V and C370S. Homozygous elderly individuals were underrepresented in three distinct populations: Bohemian Czechs, Baltimore Caucasians, and Baltimore African-Americans [combined odds ratio (OR) = 2.59, P < 0.0023]. In a transient transfection assay, secreted levels of klotho harboring V352 are reduced 6-fold, whereas extracellular levels of the S370 form are increased 2.9-fold. The V352/S370 double mutant exhibits an intermediate phenotype (1.6-fold increase), providing a rare example of intragenic complementation in cis by human single nucleotide polymorphisms. The remarkable conservation of F352 among homologous proteins suggests that it is functionally important. The corresponding substitution, F289V, in the closest human klotho paralog with a known substrate, cBGL1, completely eliminates its ability to cleave p-nitrophenyl-beta-D-glucoside. These results suggest that the KL-VS allele influences the trafficking and catalytic activity of klotho, and that variation in klotho function contributes to heterogeneity in the onset and severity of human age-related phenotypes.

Aged↗

Duchenne and Becker muscular dystrophy prevalence in South Africa and molecular findings in 128 persons affected.

A genetic service for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) was initiated in Cape Town in 1987. Of the 143 DMD patients diagnosed during the period 1987-1992, 66 had a familial pattern of inheritance and 77 were apparently sporadic. Twenty BMD patients were identified, of whom 12 had other affected relatives and 8 were sporadic. Overall minimum prevalence rates of 1/100,000 for DMD and 1/755,000 for BMD were calculated. A markedly low DMD prevalence in the indigenous black population (1/250,000) contributed to the overall low DMD prevalence in South Africa when compared with that in the UK (1/40,000). By means of molecular methods, the diagnosis in 42% of the affected DMD males was confirmed by detection of deletions in the dystrophin gene. Deletions were identified in 50% of Indian, white and mixed ancestry patients. In contrast, only 22% of blacks had identifiable deletions. DMD appears to be underrepresented in the black population; the low deletion frequency in this group suggests that unique mutations not detectable by methods used in this study may be more frequent in these patients than in the other populations. The increased DMD frequency in Indians corroborates findings reported from the UK.

Chromosome Deletion↗

Race and liver transplantation.

Little is known about the effect of race on the outcome of liver transplantation. We retrospectively reviewed a series of 358 recipients of orthotopic liver transplants to address this issue. Black recipients were underrepresented compared with the general population (6% of transplant recipients vs 12% of the population). Black recipients appeared sicker when presenting for transplantation, as evidenced by a higher priority score and a significantly greater incidence of acute and fulminant presentation. Despite this, black recipients had survival rates following transplantation that were not significantly different from those of white recipients; the 1-, 2-, and 3-year actuarial survival rates of blacks were 89.6%, 68.3%, and 68.3%, respectively, while the actuarial survival rates of whites at the same periods were 86%, 82.4%, and 78.6%, respectively. We conclude that blacks can have an outcome equal to whites following liver transplantation but they are underrepresented compared with the general population.

Adolescent↗