Annals of Human Genetics最新文献

{"title":"Correction to “Recent Statistical Innovations in Human Genetics”","authors":"","doi":"10.1111/ahg.70029","DOIUrl":"10.1111/ahg.70029","url":null,"abstract":"<p>Balding, D. J., and D. Speed. “Recent Statistical Innovations in Human Genetics.” <i>Annals of Human Genetics</i> 89: 241–254. https://doi.org/10.1111/ahg.12606</p><p>The following text was omitted from the start of the Introduction:</p><p>“Developments in statistics and human genetics have long been closely linked, dating back at least to Galton (1886), spanning the enormous contributions of Fisher in the first half of the twentieth century (Fisher 1925, for instance), and the development of maximum likelihood to infer gene-based trees (Cavalli-Sforza and Edwards 1967). We will not go over those great achievements, but instead”.</p><p>The updated text should read “Developments in statistics and human genetics have long been closely linked, dating back at least to Galton (1886), spanning the enormous contributions of Fisher in the first half of the twentieth century (Fisher 1925, for instance), and the development of maximum likelihood to infer gene-based trees (Cavalli-Sforza and Edwards 1967). We will not go over those great achievements, but instead this review covers aspects of three areas of recent statistical advance in human genetics: modelling shared inheritance of DNA segments and what they can tell us about demographic history and selection, modelling relationships between DNA variants and phenotypes and what they can tell us about genetic causes and predicted phenotypes, and identification inferences from DNA profiles.”</p><p>The three cited references are already included in the References, but they are not cited in the paper as published.</p><p>We apologize for this error.</p>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":"90 3","pages":""},"PeriodicalIF":1.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ahg.70029","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145399503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mitonuclear Discordance and Gout, Type 2 Diabetes and Chronic Kidney Disease in Aotearoa New Zealand Indigenous Māori and Pacific People","authors":"Rachel R. Dickerson,&nbsp;Riku Takei,&nbsp;Murray Cadzow,&nbsp;Theodore G. Schurr,&nbsp;Phillip L. Wilcox,&nbsp;Nicola Dalbeth,&nbsp;Lisa K. Stamp,&nbsp;Rinki Murphy,&nbsp;Janak R. de Zoysa,&nbsp;Stephane E. Castel,&nbsp;Anne-Katrin Emde,&nbsp;Kaja A. Wasik,&nbsp;Tony R. Merriman,&nbsp;Anna L. Gosling","doi":"10.1111/ahg.70033","DOIUrl":"10.1111/ahg.70033","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Mitochondrial proteins are encoded by both mitochondrial- and nuclear-encoded genes. Because mitochondrial DNA (mtDNA) is maternally inherited, admixed individuals may have different ancestral sources for their nuclear and mitochondrial genomes. The potential incompatibility between these genomic components may cause suboptimal mitochondrial function and result in energy-related pathologies. This incompatibility, or ‘mitonuclear discordance’, is defined as the proportion of the nuclear genome not derived from the same ancestral source as the mtDNA.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Based on this understanding, we hypothesized that increased mitonuclear discordance would be associated with lower mitochondrial copy number and increased risk of gout, type 2 diabetes and chronic kidney disease. We tested this prediction using genomic data from a cohort of 2301 New Zealanders with Polynesian ancestry (Indigenous Māori and Pacific peoples living in Aotearoa New Zealand).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We observed that increased mitonuclear discordance was correlated with a decreased chance of gout (<i>p</i> = 5.08 × 10⁻⁵) and a decreased chance of diagnosis with type 2 diabetes, specifically in individuals having haplogroup B4a1a (<i>p</i> = 4.20 × 10⁻⁹), which was present in 86.0% of the Polynesian study cohort. No significant association was found between mitonuclear discordance and mitochondrial copy number (<i>p</i> = 0.93), risk of chronic kidney disease (<i>p</i> = 0.084) or gout flare frequency (<i>p</i> = 0.53).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Overall, while these results contradicted our hypothesis, they can potentially be explained by a higher prevalence of disease-associated alleles for gout and type 2 diabetes in Polynesian genomes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":"90 3","pages":"189-201"},"PeriodicalIF":1.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146103363","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Genetic Basis of Neurological Disorders: Missense and Nonsense Variants in Three Pakistani Families With Syndromic Intellectual Disability","authors":"Kenza Javed,&nbsp;Nazif Muhammad,&nbsp;Syeda Iqra Hussain,&nbsp;Fozia Fozia,&nbsp;Muhammad Irfan Ullah,&nbsp;Shah Qiaz,&nbsp;Samin Jan,&nbsp;Salah ud Din,&nbsp;Adil U. Reman,&nbsp;Muhammad Daud Khan,&nbsp;Shamim Saleha,&nbsp;Noor Muhammad,&nbsp;Naveed Wasif,&nbsp;Saadullah Khan","doi":"10.1111/ahg.70030","DOIUrl":"10.1111/ahg.70030","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Neurological disorders affect both the central and peripheral nervous systems, exhibiting broad genetic and clinical variability and posing a significant public health concern. These conditions range from common disorders, such as attention deficit disorder and epilepsy, to rare diseases like intellectual disability (ID) and white matter disorders. Exome sequencing (ES) has emerged as a powerful tool in diagnosing the genetic underpinnings of these disorders. ES demonstrated its feasibility as a cost-effective diagnostic pathway by identifying pertinent diagnostic outcomes in 29.4% of cases and being noticeably more cost-effective than conventional genetic diagnostic techniques.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methodology</h3>\u0000 \u0000 <p>This study investigated the genetic basis of three rare neurological disorders in three unrelated Pakistani families using ES. Each family presents with a distinct syndromic form of ID, associated with bilateral frontoparietal polymicrogyria (BFPP) (Family-1), Li–Ghorbani–Weisz–Hubshman syndrome (LIGOWS) (Family-2), or hypomyelination and congenital cataract (HCC) (Family-3). The functional consequences of the missense variants were investigated using bioinformatic prediction tools to confirm the pathogenicity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In Family-1 with BFPP, ES identified a novel homozygous missense variant ((NM_001145771.3): c.1579C &gt; T; (NP_001139243.1): p.Pro527Ser) in <i>ADGRG1</i>, predicted to impact protein function. In Family-2 with LIGOWS, a novel homozygous missense variant ((NM_182958.4): c.649A &gt; C; (NP_892003.2): p.Met217Leu) was found in <i>KAT8</i>. In Family-3 with HCC, a novel homozygous nonsense variant ((NM_032581.4): c.722T &gt; G; (NP_115970.2): p.Leu241Ter) was identified in <i>FAM126A</i>, likely resulting in a truncated, nonfunctional protein. Families’ structures and segregation analysis confirm disease condition segregating with autosomal recessive mode of inheritance. The functional consequences of the <i>ADGRG1</i> and <i>KAT8</i> missense variants were revealed as deleterious using bioinformatic prediction tools.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>We have identified novel pathogenic variants in <i>ADGRG1</i>, <i>KAT8</i>, and <i>FAM126A</i> in individuals with rare neurological disorders, thereby expanding the genetic and clinical spectrum of these conditions. This study reports, for the first time, an autosomal recessive inheritance pattern for a KAT8-related disorder, providing new insights into its genetic architecture.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":"90 3","pages":"167-175"},"PeriodicalIF":1.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145675890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel Variant of STAG1 Gene and Literature Review","authors":"Meihua Xie,&nbsp;Liyun Xie,&nbsp;Jianlong Zhuang,&nbsp;Hening Li,&nbsp;Hongxia Zhou,&nbsp;Xiaojuan Yue","doi":"10.1111/ahg.70023","DOIUrl":"10.1111/ahg.70023","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To explore the clinical presentation and genetic etiology of a child with intellectual disability, speech developmental delay, learning difficulties, behavioral stereotype, and obsessive-compulsive disorder, and to identify new variants.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods and Results</h3>\u0000 \u0000 <p>In this study, Karyotype and copy number variant sequencing (CNV-seq) were performed to detect chromosome abnormalities in this family. The whole exome sequencing (WES) was performed to investigate additional genetic variants in this family. Minigene array was used to verify whether the novel variant c.1027-2A&gt;G really affected the splicing of <i>STAG1</i> gene. Chromosomal karyotyping and CNV-seq analysis did not reveal any chromosomal abnormalities. The WES result demonstrated a de novo NM_005862.3:c.1027-2A&gt;G variant in <i>STAG1</i> gene in the patient. This splicing variant was classified as likely pathogenic based on ACMG/AMP guidelines. Minigene array results showed that the variant could result in the appearance of premature termination codon.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our study identified a novel pathogenic locus, c.1027-2A&gt;G, associated with Intellectual developmental disorder, autosomal dominant 47 (MRD47).</p>\u0000 </section>\u0000 </div>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":"90 3","pages":"113-120"},"PeriodicalIF":1.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ahg.70023","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144939986","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification and Functional Verification of Variants Associated With Clubfoot and Arthrogrypotic Hand Deformation in a Multigeneration Polish Family","authors":"Ewa Hordyjewska-Kowalczyk,&nbsp;Akshaya Ramanujam,&nbsp;Adrian Odrzywolski,&nbsp;Annemieke Verkerk,&nbsp;Joyce van Meurs,&nbsp;Grzegorz Kandzierski,&nbsp;Przemko Tylzanowski","doi":"10.1111/ahg.70024","DOIUrl":"10.1111/ahg.70024","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Clubfoot, or talipes equinovarus (TEV), is an autosomal dominant foot malformation characterized by a variable clinical picture, ranging from mild to severe deformity. While its genetic basis has been partly elucidated, the underlying molecular mechanisms remain incompletely understood.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We investigated a five-generation Polish family presenting autosomal dominant clubfoot associated with arthrogrypotic hand deformation. Genotyping was performed to identify variants co-segregating with the phenotype. Aberrant splicing effects were assessed in the proband's sample, and functional validation was carried out in zebrafish.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Two variants were identified that segregated with the phenotype. The first, <i>TMEM256</i> c.118-4dup, is an intronic duplication resulting in aberrant splicing. The pathogenicity of the misspliced TMEM256 products was confirmed in zebrafish. The second variant, <i>MYH3</i> c.1123G&gt;A;p.(Glu375Lys), is a previously reported missense change potentially explaining the arthrogryposis-like hand deformations in the affected family members.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our findings reveal <i>TMEM256</i> as a potential novel candidate gene for clubfoot and highlight the contribution of <i>MYH3</i> variants to the broader clinical spectrum observed. These findings contribute to understanding the genetic complexity underlying clubfoot, providing unique insights into potential novel candidate gene and pathways involved in this condition.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":"90 3","pages":"136-144"},"PeriodicalIF":1.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145190659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence of the Main Human Genetic Variants Related to Resistance to Malaria in a Population of the Colombian Pacific Coast","authors":"Diana Carolina Ortega,&nbsp;María Paula Arango,&nbsp;Sergio Cañón,&nbsp;Heiber Cárdenas,&nbsp;Ranulfo González,&nbsp;Guillermo Barreto","doi":"10.1111/ahg.70022","DOIUrl":"10.1111/ahg.70022","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study aimed to determine the prevalence of Duffy, HbS, HbC, G6PD, and β-thalassemia variants through molecular characterisation in a representative sample of the population from the urban area of Buenaventura, Colombia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Material and Methods</h3>\u0000 \u0000 <p>A total of 819 individuals were randomly selected from 12 communities within the city. Molecular analysis was performed using PCR-RFLP and allele-specific PCR. Data were analysed using descriptive statistics, tests of independence, and regression analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Frequencies of 3.1%, 2.2%, 72.2%, 2.1%, 2.8%, and 11% were found for the resistance alleles HbS, HbC, Duffy, β-thalassemia-29, β-thalassemia-88 and G6PD, respectively. In addition, adolescents and young adults (13 to 26 years) presented the highest proportion of resistance genotypes. Likewise, the communities of the insular zone of Buenaventura had the highest proportion of resistance genotypes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These findings should be considered by public health and disease prevention authorities, as they highlight specific age groups and communities that may be more susceptible to malaria infection. They also identify groups that may contribute to the persistence and potential increase in the prevalence of haemoglobinopathies in the population over time.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":"90 2","pages":"99-112"},"PeriodicalIF":1.2,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144940026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Professor David Hopkinson (26 June 1935–22 March 2025). Former Editor-in-Chief of the Annals of Human Genetics; in Memoriam Tribute","authors":"Stanley Venitt,&nbsp;Dallas M. Swallow","doi":"10.1111/ahg.70020","DOIUrl":"https://doi.org/10.1111/ahg.70020","url":null,"abstract":"","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":"90 2","pages":"97-98"},"PeriodicalIF":1.2,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ahg.70020","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146154736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Centenary Special Issue of the Annals of Human Genetics","authors":"John Armour,&nbsp;Rosemary Ekong","doi":"10.1111/ahg.70018","DOIUrl":"10.1111/ahg.70018","url":null,"abstract":"","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":"89 5","pages":"239-240"},"PeriodicalIF":1.2,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144788108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Determinants of Response to Neoadjuvant Chemoradiotherapy in Rectal Cancer Identified by Whole Exome Sequencing","authors":"Jelena Peric,&nbsp;Sandra Dragicevic,&nbsp;Marko Miladinov,&nbsp;Aleksandra Djikic Rom,&nbsp;Jasna Bjelanovic,&nbsp;Jelena Kovac,&nbsp;Jovana Despotovic,&nbsp;Tamara Babic,&nbsp;Jelena Ljubicic,&nbsp;Dunja Pavlovic,&nbsp;Jovana Rosic Stojkovic,&nbsp;Ivan Dimitrijevic,&nbsp;Goran Barisic,&nbsp;Velimir Markovic,&nbsp;Aleksandra Nikolic","doi":"10.1111/ahg.70019","DOIUrl":"10.1111/ahg.70019","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Neoadjuvant chemoradiotherapy (nCRT) is essential for treating locally advanced rectal cancer (LARC), however response to nCRT varies, and reliable predictors are lacking.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This study used whole exome sequencing analysis to investigate genetic differences between tumors highly responsive and non-responsive to nCRT. Five patients with good response and two patients without response to nCRT were used as a discovery set.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The analysis identified 15 InDels and 202 non-synonymous SNVs exclusively present in tumors of non-responders, mainly in genes regulating the cell cycle, adhesion, and migration. In contrast, 9 InDels and 122 non-synonymous SNVs were exclusively present in tumors of good responders, primarily in extracellular matrix remodeling and immunity-related genes. Six variants in transmembrane transporter genes were selected as candidate biomarkers and validated in 33 LARC patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The results suggest that <i>SLC16A6</i> rs7222013 and <i>SLC25A2</i> rs3749780 may serve as potential predictors of poor nCRT response in LARC patients.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":"90 2","pages":"87-96"},"PeriodicalIF":1.2,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144758972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Polygenic Risk Score for Cancer in African Population: A Systematic Review","authors":"Wafaa M. Rashed,&nbsp;Olagunju Abdulrahmon A.","doi":"10.1111/ahg.70016","DOIUrl":"10.1111/ahg.70016","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Purpose</h3>\u0000 \u0000 <p>The aim of this systematic review is to identify all genome-wide association study (GWAS)-based polygenic risk score (PRS) studies (with different PRS approaches) reported in African ancestry populations diagnosed with any type of cancer. Additionally, this review assessed the role of PRS in advancing precision medicine through its clinical utility across different cancer types in African populations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We searched PubMed from January 2009 to April 2023 and included GWAS-based PRS studies for cancer patients of African genetic ancestry.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among the 33 eligible studies, prostate cancer and breast cancer were the most common types in adults, whereas only one publication reported the risk association of neuroblastoma (a pediatric cancer). The most common PRS approach used was ancestry-specific PRS. Clinical utility of the calculated PRS varies across cancer types, with inconsistent results. Our systematic review found a limited number of PRS studies on cancer patients (adult and pediatric) of African ancestry, and these studies showed less clinical utility compared to those conducted in European ancestry populations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>To make PRS clinically actionable for African ancestry populations, it is crucial to increase the number of large-scale, population-specific GWAS, improve the representation of African-ancestry cohorts, and refine PRS models to better reflect the genetic diversity within African populations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":"90 2","pages":"67-86"},"PeriodicalIF":1.2,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144758973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}