Annals of Human Genetics最新文献

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AI-Based Facial Dysmorphism Assessment in Diverse Populations: Advancements and Future Directions 基于人工智能的不同人群面部畸形评估:进展和未来方向。
IF 1.2 4区 生物学
Annals of Human Genetics Pub Date : 2025-07-15 DOI: 10.1111/ahg.70010
Tung Chao Li, Lien-Chung Wei
{"title":"AI-Based Facial Dysmorphism Assessment in Diverse Populations: Advancements and Future Directions","authors":"Tung Chao Li,&nbsp;Lien-Chung Wei","doi":"10.1111/ahg.70010","DOIUrl":"10.1111/ahg.70010","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>The recent study by Makay et al. significantly advances our understanding of artificial intelligence (AI)-based tools for evaluating facial dysmorphism, particularly within underrepresented populations such as Central African children. This commentary underscores the importance of integrating AI phenotyping technologies with traditional clinical assessments, emphasizing their complementary roles rather than replacement. The commentary further explores methodological enhancements, including the integration of three-dimensional facial analysis, and highlights the necessity for ongoing validation studies in diverse ethnic cohorts to optimize algorithmic precision and clinical applicability. These refinements are essential for improving dysmorphology evaluations globally, particularly in regions with limited genetic healthcare resources.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":"90 1","pages":"23-24"},"PeriodicalIF":1.2,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636013","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}
引用次数: 0
The Promise and Challenges of Genomics for Patients and Families Affected by Rare Conditions 基因组学对受罕见疾病影响的患者和家庭的希望和挑战。
IF 1.2 4区 生物学
Annals of Human Genetics Pub Date : 2025-07-05 DOI: 10.1111/ahg.70008
Claire A. Andersen, Anna L. Pelling, Sarah L. Wynn
{"title":"The Promise and Challenges of Genomics for Patients and Families Affected by Rare Conditions","authors":"Claire A. Andersen,&nbsp;Anna L. Pelling,&nbsp;Sarah L. Wynn","doi":"10.1111/ahg.70008","DOIUrl":"10.1111/ahg.70008","url":null,"abstract":"<p>Availability and implementation of genetic testing on a national and global level have advanced exponentially over the last few decades. While having a diagnosis of a rare genetic condition can have a plethora of effects on those concerned, the delivery of a diagnosis can often be accompanied by little information and no obvious care path for the future.</p><p>Continued advancements in genomics have curtailed often lengthy diagnostic odysseys but also highlighted inequities and the need for extended support and provision of related information.</p><p>Unique, a UK-based charity serving the global community of people and families affected by rare chromosome and gene disorders associated with developmental delay and/or intellectual disability, aims to bridge the knowledge and care gap between diagnosis and follow-up care.</p><p>Bringing together patients, families, research scientists, clinical geneticists and other professionals involved in the care of individuals with a rare genetic condition can have a powerful impact on the progress of targeted support.</p><p>With a community of over 30,000 member families, sharing knowledge and experience of rare genetic disorders, and also experiences of diagnosis delivery and follow-up care, this community provides an important source of insights and actionable concerns of those experiencing a rare disease journey, from diagnosis and throughout life.</p>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":"89 5","pages":"366-371"},"PeriodicalIF":1.2,"publicationDate":"2025-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ahg.70008","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144567009","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}
引用次数: 0
Bidirectional Mendelian Randomization Study: Unraveling the Link Between Idiopathic Pulmonary Fibrosis and Cardiovascular Disease 双向孟德尔随机化研究:揭示特发性肺纤维化与心血管疾病之间的联系。
IF 1.2 4区 生物学
Annals of Human Genetics Pub Date : 2025-07-04 DOI: 10.1111/ahg.12605
Lijuan Hu, Ruoyu Liu, Liang Yang, Mingyuan Xu, Yun Zhou, Yongtong Cao
{"title":"Bidirectional Mendelian Randomization Study: Unraveling the Link Between Idiopathic Pulmonary Fibrosis and Cardiovascular Disease","authors":"Lijuan Hu,&nbsp;Ruoyu Liu,&nbsp;Liang Yang,&nbsp;Mingyuan Xu,&nbsp;Yun Zhou,&nbsp;Yongtong Cao","doi":"10.1111/ahg.12605","DOIUrl":"10.1111/ahg.12605","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Idiopathic pulmonary fibrosis (IPF), the predominant idiopathic interstitial pneumonia, is marked by progressive, irreversible lung damage with a 3-year median survival rate in the elderly. Cardiovascular disease (CVD) is the most common disease in the elderly population and its incidence is increasing all the time, especially in the Asia-Pacific region, coinciding with the rise in global mortality. Despite clinical indications of a link between IPF and CVD, the mechanisms are not well understood. This study applies a bidirectional two-sample Mendelian randomization (MR) approach to explore potential causalities between IPF and CVD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Summary data from public genome-wide association study (GWAS) databases for IPF (27,449 participants) and CVD were utilized. Single nucleotide polymorphisms (SNPs) served as instrumental variables in MR analysis, employing inverse variance-weighted (IVW), weighted median (WM), and MR-Egger methods. Heterogeneity was assessed with Cochran's <i>Q</i> test, and sensitivity analyses were conducted using MR-PRESSO.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The IVW analysis revealed no significant associations between genetically predicted IPF and CVD, except for a significant negative association with large artery atherosclerosis stroke and IPF. The WM method supported this inverse relationship. MR-Egger intercept indicated pleiotropy in the link between IPF and heart failure, with no outliers detected by MR-PRESSO. Cochran's <i>Q</i> test showed no significant heterogeneity for the relationships.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The bidirectional MR study suggests a potential negative influence of large artery atherosclerosis stroke on IPF, hinting at a protective role of IPF in stroke incidence. The absence of significant associations with other CVDs and IPF implies a more complex relationship than previously considered. Further research is needed to clarify the intricate connections between IPF and CVD.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":"90 1","pages":"13-22"},"PeriodicalIF":1.2,"publicationDate":"2025-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144558899","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}
引用次数: 0
Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders 人类色素沉着障碍中皮肤、头发和眼睛颜色的遗传学。
IF 1.2 4区 生物学
Annals of Human Genetics Pub Date : 2025-07-03 DOI: 10.1111/ahg.70003
Prashiela Manga, Stacie Loftus
{"title":"Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders","authors":"Prashiela Manga,&nbsp;Stacie Loftus","doi":"10.1111/ahg.70003","DOIUrl":"10.1111/ahg.70003","url":null,"abstract":"<p>Skin, hair, and eye (oculocutaneous) color is due to melanin, a pigment produced by melanocytes. This review considers processes required for pigmentation and the complex genetic network that regulates them. The first requisite is migration of neural crest-derived melanoblasts, which populate various embryonic sites, then differentiate into melanocytes or seed stem cell niches. Differentiation is marked by expression of genes essential for melanogenesis, which takes place in melanosomes and involves conversion of tyrosine into melanin. Melanosome biogenesis requires premelanosome maturation through coordinated delivery of melanogenic enzymes such as tyrosinase (TYR), structural proteins, and transporters that establish an intraluminal environment conducive to melanogenesis. Sorting of proteins through endolysosomal pathways and delivery to melanosomes is facilitated by trafficking protein complexes. Finally, melanin is transferred to keratinocytes to protect against ultraviolet light. Numerous pigment-related disorders result from disruption of these pathways, including Waardenburg syndrome caused by melanoblast migration disruption, oculocutaneous albinism presenting with absent/reduced melanogenesis, and melanoma resulting from dysregulation of proliferation/survival. Genetic variants also determine normal color variation, which is pronounced across populations that, historically, lived in different geographical regions. This variation, shaped by genetic factors, environmental influences, and evolutionary pressures, underpins the wide range of pigmentation phenotypes seen today.</p>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":"89 5","pages":"305-320"},"PeriodicalIF":1.2,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12233148/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144551711","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}
引用次数: 0
Dissecting the Genetic Affinity Between the Orang Asli and Southeast Asian Native Populations 美洲猩猩与东南亚原住民遗传亲缘关系分析。
IF 1.2 4区 生物学
Annals of Human Genetics Pub Date : 2025-06-29 DOI: 10.1111/ahg.70005
Cengnata Alvin, Tham Pei-Mei, Foo Hoi-Thung, Chan Calista Zhe-Qing, Lee Xin, Lim Renee Lay-Hong, Deng Lian, Xu Shuhua, Hoh Boon-Peng
{"title":"Dissecting the Genetic Affinity Between the Orang Asli and Southeast Asian Native Populations","authors":"Cengnata Alvin,&nbsp;Tham Pei-Mei,&nbsp;Foo Hoi-Thung,&nbsp;Chan Calista Zhe-Qing,&nbsp;Lee Xin,&nbsp;Lim Renee Lay-Hong,&nbsp;Deng Lian,&nbsp;Xu Shuhua,&nbsp;Hoh Boon-Peng","doi":"10.1111/ahg.70005","DOIUrl":"10.1111/ahg.70005","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Southeast Asia (SEA) is a region with enriched human diversity and complex population history. Despite numerous small-scale population genetics studies being carried out, the map of human migration in this landmass remains fragmentary. Notably, the genetic affinities of the Orang Asli from Peninsular Malaysia and other SEA natives have not been comprehensively assessed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this study, publicly available genotypic datasets were gathered and imputed. The genetic relationships and ancestry make-up of 19 SEA native populations, covering Peninsular Malaysia, Indonesia, Papua New Guinea, the Philippines, Vietnam, and Andaman, were comprehended and benchmarked with 14 global populations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>With ∼20 million SNPs coverage, we provided supporting evidence to (i) a possible ancient genetic link between the Andamanese, Papuan and the Philippines and Peninsular Negrito; (ii) gene flow from the ancestors of Andamanese to Papuan, and the Negrito from Peninsular Malaysia and the Philippines; (iii) different genetic structures between the island SEA (iSEA) and mainland (mSEA) populations; (iv) close genetic affinity between the Proto-Malay Seletar with the iSEA populations and (v) close genetic affinity between the Senoi Mah Meri with the Proto-Malays.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>To our knowledge, this study reported the highest genomic sequence coverage and the most comprehensive SEA native populations covered thus far. Our results not only have provided strong supporting evidence to the earlier hypothesis, but also novel insights into the genetic diversity of the SEA native populations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":"90 1","pages":"1-12"},"PeriodicalIF":1.2,"publicationDate":"2025-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144526219","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}
引用次数: 0
Recent Statistical Innovations in Human Genetics 人类遗传学的最新统计创新。
IF 1.2 4区 生物学
Annals of Human Genetics Pub Date : 2025-06-27 DOI: 10.1111/ahg.12606
David J. Balding, Doug Speed
{"title":"Recent Statistical Innovations in Human Genetics","authors":"David J. Balding,&nbsp;Doug Speed","doi":"10.1111/ahg.12606","DOIUrl":"10.1111/ahg.12606","url":null,"abstract":"<p>We review three areas of human genetics that have been developed in the past few decades, in which statistical innovation has made a crucial contribution with recent important advances and the potential for further rapid progress. The first topic is the development of mathematical models for the genealogy underlying samples of genome-wide genetic data. Coalescent theory emerged in the 1980s, leaped ahead in the past decade and is now burgeoning into new application areas in population, evolutionary and medical genetics. The second is the development of statistical methods for genome-wide association studies which has made great strides over two decades, including exciting recent developments for association testing based on coalescent theory and improved methods for trait prediction. Finally, we review the statistical ideas that helped resolve the controversies surrounding the introduction of forensic DNA profiling in the early 1990s. Big advances in interpretation of the predominant autosomal DNA profiles have set a benchmark for other areas of forensic science, but the statistical assessment of uniparentally inherited profiles (derived from the mitochondrial DNA or the Y chromosome) remains unsatisfactory.</p>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":"89 5","pages":"241-254"},"PeriodicalIF":1.2,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ahg.12606","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144511471","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}
引用次数: 0
Novel SPTB Variations Cause Hereditary Spherocytosis With Cholangiolithiasis and Severe Intrahepatic Cholestasis 新的SPTB变异引起遗传性球形细胞增多症伴胆管结石和严重肝内胆汁淤积。
IF 1.2 4区 生物学
Annals of Human Genetics Pub Date : 2025-06-23 DOI: 10.1111/ahg.70006
Lin-Lin Li, Sadik Ali, Qiong Bin
{"title":"Novel SPTB Variations Cause Hereditary Spherocytosis With Cholangiolithiasis and Severe Intrahepatic Cholestasis","authors":"Lin-Lin Li,&nbsp;Sadik Ali,&nbsp;Qiong Bin","doi":"10.1111/ahg.70006","DOIUrl":"10.1111/ahg.70006","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Hereditary spherocytosis (HS) is a chronic non-immune hemolytic anemia caused by congenital defects in the erythrocyte membrane. Gene variations can lead to HS, and the <i>SPTB</i> gene variation is one of them. However, HS with cholangiolithiasis and extremely intrahepatic cholestasis had been rarely discussed as a phenotype caused by <i>SPTB</i> gene variation, and the pathogenic mechanism of this gene variation is still unclear.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Clinical data were collected, genetic analysis was carried out by high throughput sequencing and Sanger sequencing, and then pathogenic mechanism of gene variation was revealed by Western blot analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Two children were admitted because of severe jaundice and finally confirmed as HS complicated with cholangiolithiasis and severe intrahepatic cholestasis. After conservative treatments, symptoms of cholangiolithiasis and intrahepatic cholestasis relieved. Respectively, two novel heterozygous variations of <i>SPTB</i> gene, (NM_001024858.4: c.493_494insTG, p. Q165fs) and (NM_001024858.4: c.1715delT, p. L572X), were identified in these two families. Western blot analysis revealed that these two pathogenic variations all cause decreased protein expression of β-spectrin.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>We have identified two novel <i>SPTB</i> variations in HS with cholangiolithiasis and intrahepatic cholestasis. Moreover, our study enhances current understanding of the phenotype and molecular mechanisms associated with <i>SPTB</i> variation.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":"89 6","pages":"450-458"},"PeriodicalIF":1.2,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144473891","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}
引用次数: 0
Genetic Polymorphisms of 16 X-STR Loci in the Yi Ethnic Minority of Chuxiong Yi Autonomous Prefecture in Yunnan Province in China 云南省楚雄彝族自治州彝族16个X-STR基因座的遗传多态性
IF 1.2 4区 生物学
Annals of Human Genetics Pub Date : 2025-06-16 DOI: 10.1111/ahg.12602
Linlin Liu, Hecheng Zheng, Tiantian Zou, Xiangping Li, Renwu Huang, Lili Qing, Shengjie Nie, Liping Hu
{"title":"Genetic Polymorphisms of 16 X-STR Loci in the Yi Ethnic Minority of Chuxiong Yi Autonomous Prefecture in Yunnan Province in China","authors":"Linlin Liu,&nbsp;Hecheng Zheng,&nbsp;Tiantian Zou,&nbsp;Xiangping Li,&nbsp;Renwu Huang,&nbsp;Lili Qing,&nbsp;Shengjie Nie,&nbsp;Liping Hu","doi":"10.1111/ahg.12602","DOIUrl":"10.1111/ahg.12602","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>To study the genetic characteristics of X-chromosome short tandem repeats (X-STRs) in the Yunnan Yi ethnic minority.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We analyzed the allele frequencies and forensic parameters for 16 X-STR loci in 432 unrelated Yi individuals (206 males and 226 females) in Chuxiong Yi Autonomous Prefecture, Yunnan Province.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 130 alleles were detected. Except for DXS6800, the other loci are highly polymorphic in the Yunnan Yi ethnicity. The combined values of discrimination for males (PDM) and females (PDF) were 0.999999999968561 and 0.999999999999993, respectively, which can be used for forensic medical identification and genetic studies. On the basis of the results of population comparison, there seems to be a relatively close evolutionary relationship between adjacent populations and different ethnic groups in the same region.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study contributes to X-chromosome genetic polymorphism data for the Yunnan Yi ethnicity and further enriches reference materials on the Chinese Yi ethnic minority.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":"89 6","pages":"446-449"},"PeriodicalIF":1.2,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144309470","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}
引用次数: 0
Causal Effects of Inflammatory Cytokines on Urethral Stricture Disease: A Bidirectional Mendelian Randomization Study 炎症细胞因子对尿道狭窄疾病的因果影响:一项双向孟德尔随机研究。
IF 1.2 4区 生物学
Annals of Human Genetics Pub Date : 2025-06-09 DOI: 10.1111/ahg.70002
Yue Chong, Li Xue, Zihe Peng, Zhenlong Wang, Delai Fu, Zhixin Huang, Tie Chong
{"title":"Causal Effects of Inflammatory Cytokines on Urethral Stricture Disease: A Bidirectional Mendelian Randomization Study","authors":"Yue Chong,&nbsp;Li Xue,&nbsp;Zihe Peng,&nbsp;Zhenlong Wang,&nbsp;Delai Fu,&nbsp;Zhixin Huang,&nbsp;Tie Chong","doi":"10.1111/ahg.70002","DOIUrl":"10.1111/ahg.70002","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Inflammation has been reported to be associated with urethral stricture, whereas rarely any studies have reported the causal relationship between inflammatory cytokines and urethral stricture. We investigated the causal effects between inflammatory cytokines and urethral stricture with Mendelian randomization (MR).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Genome-wide association study (GWAS) summary statistics on 41 inflammatory cytokines from 8293 Finns and 787 patients with urethral stricture were included for bidirectional MR analysis. The causality between inflammatory cytokines and urethral stricture was estimated using inverse variance weighting (IVW), weighted median, and model selection. Multiple sensitivity analyses (including pleiotropy, heterogeneity, and leave-one-out tests) were performed to evaluate the robustness and dependability of the MR results, followed by Bayesian colocalization, phenotype scanning, and protein–protein interaction (PPI) analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We identified a significant causal relationship between three inflammatory cytokines (granulocyte colony-stimulating factor [GCSF], stem cell growth factor beta [SCGFb], and interleukin-5 [IL5]) and urethral stricture. GCSF (odds ratio [OR] = 4.722, 95% confidence interval [CI] = 1.367–16.303, <i>p</i> = 0.014) and SCGFb (OR = 1.209, 95% CI = 1.06–1.379, <i>p</i> = 0.004) increased the risk of urethral stricture, whereas IL5 decreased the risk of urethral stricture (OR = 0.782, 95% CI = 0.626–0.976, <i>p</i> = 0.029). Reverse MR showed no reverse causality between inflammatory cytokines, with significant causality and urethral stricture. PPI analysis showed that the three inflammatory cytokines interacted with multiple fibrosis-related genes: transforming growth factor beta 1, nitric oxide synthase 2, and C–X–C motif chemokine receptor 3.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our study demonstrated that the inflammatory cytokines GCSF, SCGFb, and IL5 are significantly associated with urethral stricture, providing valuable insights for the prevention and diagnosis of urethral stricture.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":"89 6","pages":"434-445"},"PeriodicalIF":1.2,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144257247","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}
引用次数: 0
Genetics and Genomics in Health and Disease: A Focus on African Populations 健康和疾病中的遗传学和基因组学:以非洲人口为重点。
IF 1 4区 生物学
Annals of Human Genetics Pub Date : 2025-05-16 DOI: 10.1111/ahg.12603
Tinashe Chikowore, Opeyemi Soremekun, Felix P. Chilunga
{"title":"Genetics and Genomics in Health and Disease: A Focus on African Populations","authors":"Tinashe Chikowore,&nbsp;Opeyemi Soremekun,&nbsp;Felix P. Chilunga","doi":"10.1111/ahg.12603","DOIUrl":"10.1111/ahg.12603","url":null,"abstract":"","PeriodicalId":8085,"journal":{"name":"Annals of Human Genetics","volume":"89 4","pages":"133-134"},"PeriodicalIF":1.0,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144075526","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}
引用次数: 0
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