Journal of Human Genetics最新文献_第8页

Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia GAA-FGF14共济失调症的串联重复遗传特征和交感神经受累。

IF 2.6 3区生物学

Journal of Human Genetics Pub Date : 2024-06-12 DOI: 10.1038/s10038-024-01262-5

Ze-Hong Zheng, Chun-Yan Cao, Bi Cheng, Ru-Ying Yuan, Yi-Heng Zeng, Zhang-Bao Guo, Yu-Sen Qiu, Wen-Qi Lv, Hui Liang, Jin-Lan Li, Wei-Xiong Zhang, Min-Kun Fang, Yu-Hao Sun, Wei Lin, Jing-Mei Hong, Shi-Rui Gan, Ning Wang, Wan-Jin Chen, Gan-Qin Du, Ling Fang

{"title":"Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia","authors":"Ze-Hong Zheng, Chun-Yan Cao, Bi Cheng, Ru-Ying Yuan, Yi-Heng Zeng, Zhang-Bao Guo, Yu-Sen Qiu, Wen-Qi Lv, Hui Liang, Jin-Lan Li, Wei-Xiong Zhang, Min-Kun Fang, Yu-Hao Sun, Wei Lin, Jing-Mei Hong, Shi-Rui Gan, Ning Wang, Wan-Jin Chen, Gan-Qin Du, Ling Fang","doi":"10.1038/s10038-024-01262-5","DOIUrl":"10.1038/s10038-024-01262-5","url":null,"abstract":"Intronic GAA repeat expansion ([GAA] ≥250) in FGF14 is associated with the late-onset neurodegenerative disorder, spinocerebellar ataxia 27B (SCA27B, GAA-FGF14 ataxia). We aim to determine the prevalence of the GAA repeat expansion in FGF14 in Chinese populations presenting late-onset cerebellar ataxia (LOCA) and evaluate the characteristics of tandem repeat inheritance, radiological features and sympathetic nerve involvement. GAA-FGF14 repeat expansion was screened in an undiagnosed LOCA cohort (n = 664) and variations in repeat-length were analyzed in families of confirmed GAA-FGF14 ataxia patients. Brain magnetic resonance imaging (MRI) was used to evaluate the radiological feature in GAA-FGF14 ataxia patients. Clinical examinations and sympathetic skin response (SSR) recordings in GAA-FGF14 patients (n = 16) were used to quantify sympathetic nerve involvement. Two unrelated probands (2/664) were identified. Genetic screening for GAA-FGF14 repeat expansion was performed in 39 family members, 16 of whom were genetically diagnosed with GAA-FGF14 ataxia. Familial screening revealed expansion of GAA repeats in maternal transmissions, but contraction upon paternal transmission. Brain MRI showed slight to moderate cerebellar atrophy. SSR amplitude was lower in GAA-FGF14 patients in pre-symptomatic stage compared to healthy controls, and further decreased in the symptomatic stage. GAA-FGF14 ataxia was rare among Chinese LOCA cases. Parental gender appears to affect variability in GAA repeat number between generations. Reduced SSR amplitude is a prominent feature in GAA-FGF14 patients, even in the pre-symptomatic stage.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"69 9","pages":"433-440"},"PeriodicalIF":2.6,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141310866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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 recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients 建议对成人遗传疾病患者中意义不明的变异体 (VUS) 进行重新分类。

IF 2.6 3区生物学

Journal of Human Genetics Pub Date : 2024-06-06 DOI: 10.1038/s10038-024-01263-4

Li Zhang, Minna Shen, Xianhong Shu, Jingmin Zhou, Jing Ding, Huandong Lin, Baishen Pan, Chunyan Zhang, Beili Wang, Wei Guo

{"title":"The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients","authors":"Li Zhang, Minna Shen, Xianhong Shu, Jingmin Zhou, Jing Ding, Huandong Lin, Baishen Pan, Chunyan Zhang, Beili Wang, Wei Guo","doi":"10.1038/s10038-024-01263-4","DOIUrl":"10.1038/s10038-024-01263-4","url":null,"abstract":"Since variants of uncertain significance (VUS) reported in genetic testing cannot be acted upon clinically, this classification may delay or prohibit precise diagnosis and genetic counseling in adult genetic disorders patients. Large-scale analyses about qualitatively distinct lines of evidence used for VUS can make them re-classification more accurately. We analyzed 458 Chinese adult patients WES data, within 15 pathogenic evidence PS1, PS2, PM1, PM6 and PP4 were not used for VUS pathogenic classification, meanwhile the PP3, BP4, PP2 were used much more frequently. The PM2_Supporting was used most widely for all reported variants. There were also 31 null variants (nonsense, frameshift, canonical ±1 or 2 splice sites) which were probably the disease-causing variants of the patients were classified as VUS. By analyzed the evidence used for all VUS we recommend that appropriate genetic counseling, reliable releasing of in-house data, allele frequency comparison between case and control, expanded verification in patient family, co-segregation analysis and functional assays were urgent need to gather more evidence to reclassify VUS. We also found adult patients with nervous system disease were reported the most phenotype-associated VUS and the lower the phenotypic specificity, the more reported VUS. This result emphasized the importance of pretest genetic counseling which would make less reporting of VUS. Our result revealed the characteristics of the pathogenic classification evidence used for VUS in adult genetic disorders patients for the first time, recommend a rules-based process to evaluate the pathogenicity of VUS which could provide a strong basis for accurately evaluating the pathogenicity and clinical grade information of VUS. Meanwhile, we further expanded the genetic spectrum and improve the diagnostic rate of adult genetic disorders.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"69 9","pages":"425-431"},"PeriodicalIF":2.6,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141260268","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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 association mapping leveraging Gaussian processes 利用高斯过程绘制遗传关联图。

IF 2.6 3区生物学

Journal of Human Genetics Pub Date : 2024-06-04 DOI: 10.1038/s10038-024-01259-0

Natsuhiko Kumasaka

引用次数: 0

Clinical and molecular characteristics of Korean patients with Kabuki syndrome 韩国歌舞伎综合征患者的临床和分子特征。

IF 2.6 3区生物学

Journal of Human Genetics Pub Date : 2024-06-01 DOI: 10.1038/s10038-024-01258-1

Ji-Hee Yoon, Soojin Hwang, Hyunwoo Bae, Dohyung Kim, Go Hun Seo, June-Young Koh, Young Seok Ju, Hyo-Sang Do, Soyoung Kim, Gu-Hwan Kim, Ja Hye Kim, Jin-Ho Choi, Beom Hee Lee

{"title":"Clinical and molecular characteristics of Korean patients with Kabuki syndrome","authors":"Ji-Hee Yoon, Soojin Hwang, Hyunwoo Bae, Dohyung Kim, Go Hun Seo, June-Young Koh, Young Seok Ju, Hyo-Sang Do, Soyoung Kim, Gu-Hwan Kim, Ja Hye Kim, Jin-Ho Choi, Beom Hee Lee","doi":"10.1038/s10038-024-01258-1","DOIUrl":"10.1038/s10038-024-01258-1","url":null,"abstract":"Kabuki syndrome (KS) is a rare disorder characterized by typical facial features, skeletal anomalies, fetal fingertip pad persistence, postnatal growth retardation, and intellectual disabilities. Heterozygous variants of the KMT2D and KDM6A genes are major genetic causes of KS. This study aimed to report the clinical and genetic characteristics of KS. This study included 28 Korean patients (14 boys and 14 girls) with KS through molecular genetic testing, including direct Sanger sequencing, whole-exome sequencing, or whole-genome sequencing. The median age at clinical diagnosis was 18.5 months (IQR 7–58 months), and the median follow-up duration was 80.5 months (IQR 48–112 months). Molecular genetic testing identified different pathogenic variants of the KMT2D (n = 23) and KDM6A (n = 3) genes, including 15 novel variants. Patients showed typical facial features (100%), such as long palpebral fissure and eversion of the lower eyelid; intellectual disability/developmental delay (96%); short stature (79%); and congenital cardiac anomalies (75%). Although 71% experienced failure to thrive in infancy, 54% of patients showed a tendency toward overweight/obesity in early childhood. Patients with KDM6A variants demonstrated severe genotype-phenotype correlation. This study enhances the understanding of the clinical and genetic characteristics of KS.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"69 9","pages":"417-423"},"PeriodicalIF":2.6,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141186121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translation SCA36 中的六核苷酸重复扩增会减少参与核糖体生物合成和蛋白质翻译的基因的表达

IF 2.6 3区生物学

Journal of Human Genetics Pub Date : 2024-05-29 DOI: 10.1038/s10038-024-01260-7

Takuya Morikawa, Shiroh Miura, Yusuke Uchiyama, Shigeyoshi Hiruki, Yinrui Sun, Ryuta Fujioka, Hiroki Shibata

引用次数: 0

Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility DRC3（LRRC48）基因的同卵变异导致无精子症和男性不育。

IF 2.6 3区生物学

Journal of Human Genetics Pub Date : 2024-05-20 DOI: 10.1038/s10038-024-01253-6

Jiao Qin, Jinyu Wang, Jianhai Chen, Jinyan Xu, Shanling Liu, Dong Deng, Fuping Li

{"title":"Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility","authors":"Jiao Qin, Jinyu Wang, Jianhai Chen, Jinyan Xu, Shanling Liu, Dong Deng, Fuping Li","doi":"10.1038/s10038-024-01253-6","DOIUrl":"10.1038/s10038-024-01253-6","url":null,"abstract":"Human infertility affects 10–15% of couples. Asthenozoospermia accounts for 18% of men with infertility and is a common male infertility phenotype. The nexin-dynein regulatory complex (N-DRC) is a large protein complex in the sperm flagellum that connects adjacent doublets of microtubules. Defects in the N-DRC can disrupt cilia/flagellum movement, resulting in primary ciliary dyskinesia and male infertility. Using whole-exome sequencing, we identified a pathological homozygous variant of the dynein regulatory complex subunit 3 (DRC3) gene, which expresses leucine-rich repeat-containing protein 48, a component of the N-DRC, in a patient with asthenozoospermia. The variant ENST00000313838.12: c.644dup (p. Glu216GlyfsTer36) causes premature translational arrest of DRC3, resulting in a dysfunctional DRC3 protein. The patient’s semen count, color, and pH were normal according to the reference values of the World Health Organization guidelines; however, sperm motility and progressive motility were reduced. DRC3 protein was not detected in the patient’s sperm and the ultrastructure of the patient’s sperm flagella was destroyed. More importantly, the DRC3 variant reduced its interaction with other components of the N-DRC, including dynein regulatory complex subunits 1, 2, 4, 5, 7, and 8. Our data not only revealed the essential biological functions of DRC3 in sperm flagellum movement and structure but also provided a new basis for the clinical genetic diagnosis of male infertility.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"69 8","pages":"401-409"},"PeriodicalIF":2.6,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141071261","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals FBXO11变体与中国患者的智力残疾和不同临床表现有关。

IF 2.6 3区生物学

Journal of Human Genetics Pub Date : 2024-05-13 DOI: 10.1038/s10038-024-01255-4

Xin Pan, Li Liu, Xu Zhang, Xianglan Tang, Guanhua Qian, Hao Qiu, Shuhong Lin, Hong Yao, Xiaojing Dong, Bo Tan

{"title":"FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals","authors":"Xin Pan, Li Liu, Xu Zhang, Xianglan Tang, Guanhua Qian, Hao Qiu, Shuhong Lin, Hong Yao, Xiaojing Dong, Bo Tan","doi":"10.1038/s10038-024-01255-4","DOIUrl":"10.1038/s10038-024-01255-4","url":null,"abstract":"F-box protein 11 (FBXO11) is a member of F-Box protein family, which has recently been proved to be associated with intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA, OMIM: 618089). In this study, 12 intellectual disability individuals from 5 Chinese ID families were collected, and whole exome sequencing (WES), sanger sequencing, and RNA sequencing (RNA-seq) were conducted. Almost all the affected individuals presented with mild to severe intellectual disability (12/12), global developmental delay (10/12), speech and language development delay (8/12) associated with a range of alternate features including increased body weight (7/12), short stature (6/12), seizures (3/12), reduced visual acuity (4/12), hypotonia (1/12), and auditory hallucinations and hallucinations (1/12). Distinguishingly, malformation was not observed in all the affected individuals. WES analysis showed 5 novel FBXO11 variants, which include an inframe deletion variant, a missense variant, two frameshift variants, and a partial deletion of FBXO11 (exon 22–23). RNA-seq indicated that exon 22–23 deletion of FBXO11 results in a new mRNA structure. Conservation and protein structure prediction demonstrated deleterious effect of these variants. The DEGs analysis revealed 148 differentially expressed genes shared among 6 affected individuals, which were mainly associated with genes of muscle and immune system. Our research is the first report of FBXO11-associated IDDFBA in Chinese individuals, which expands the genetic and clinical spectrum of this newly identified NDD/ID syndrome.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"69 8","pages":"391-400"},"PeriodicalIF":2.6,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140916565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay tRNAGln 中的一种新型致病线粒体 DNA 变异 m.4344T>C 会导致发育迟缓。

IF 2.6 3区生物学

Journal of Human Genetics Pub Date : 2024-05-10 DOI: 10.1038/s10038-024-01254-5

Xiaojie Yin, Qiyu Dong, Shuanglong Fan, Lina Yang, Hao Li, Yijun Jin, Mahlatsi Refiloe Laurentinah, Xiandan Chen, Aliaksei Sysa, Hezhi Fang, Jianxin Lyu, Yongguo Yu, Ya Wang

{"title":"A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay","authors":"Xiaojie Yin, Qiyu Dong, Shuanglong Fan, Lina Yang, Hao Li, Yijun Jin, Mahlatsi Refiloe Laurentinah, Xiandan Chen, Aliaksei Sysa, Hezhi Fang, Jianxin Lyu, Yongguo Yu, Ya Wang","doi":"10.1038/s10038-024-01254-5","DOIUrl":"10.1038/s10038-024-01254-5","url":null,"abstract":"Mitochondrial diseases are a group of genetic diseases caused by mutations in mitochondrial DNA and nuclear DNA. However, the genetic spectrum of this disease is not yet complete. In this study, we identified a novel variant m.4344T>C in mitochondrial tRNAGln from a patient with developmental delay. The mutant loads of m.4344T>C were 95% and 89% in the patient’s blood and oral epithelial cells, respectively. Multialignment analysis showed high evolutionary conservation of this nucleotide. TrRosettaRNA predicted that m.4344T>C variant would introduce an additional hydrogen bond and alter the conformation of the T-loop. The transmitochondrial cybrid-based study demonstrated that m.4344T>C variant impaired the steady-state level of mitochondrial tRNAGln and decreased the contents of mitochondrial OXPHOS complexes I, III, and IV, resulting in defective mitochondrial respiration, elevated mitochondrial ROS production, reduced mitochondrial membrane potential and decreased mitochondrial ATP levels. Altogether, this is the first report in patient carrying the m.4344T>C variant. Our data uncover the pathogenesis of the m.4344T>C variant and expand the genetic mutation spectrum of mitochondrial diseases, thus contributing to the clinical diagnosis of mitochondrial tRNAGln gene variants-associated mitochondrial diseases.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"69 8","pages":"381-389"},"PeriodicalIF":2.6,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140904512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Fundamentals for predicting transcriptional regulations from DNA sequence patterns 从 DNA 序列模式预测转录调控的基本原理。

IF 2.6 3区生物学

Journal of Human Genetics Pub Date : 2024-05-10 DOI: 10.1038/s10038-024-01256-3

Masaru Koido, Kohei Tomizuka, Chikashi Terao

{"title":"Fundamentals for predicting transcriptional regulations from DNA sequence patterns","authors":"Masaru Koido, Kohei Tomizuka, Chikashi Terao","doi":"10.1038/s10038-024-01256-3","DOIUrl":"10.1038/s10038-024-01256-3","url":null,"abstract":"Cell-type-specific regulatory elements, cataloged through extensive experiments and bioinformatics in large-scale consortiums, have enabled enrichment analyses of genetic associations that primarily utilize positional information of the regulatory elements. These analyses have identified cell types and pathways genetically associated with human complex traits. However, our understanding of detailed allelic effects on these elements’ activities and on-off states remains incomplete, hampering the interpretation of human genetic study results. This review introduces machine learning methods to learn sequence-dependent transcriptional regulation mechanisms from DNA sequences for predicting such allelic effects (not associations). We provide a concise history of machine-learning-based approaches, the requirements, and the key computational processes, focusing on primers in machine learning. Convolution and self-attention, pivotal in modern deep-learning models, are explained through geometrical interpretations using dot products. This facilitates understanding of the concept and why these have been used for machine learning for DNA sequences. These will inspire further research in this genetics and genomics field.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"69 10","pages":"499-504"},"PeriodicalIF":2.6,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s10038-024-01256-3.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140904516","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Exploring the relationship between admixture and genetic susceptibility to attention deficit hyperactivity disorder in two Latin American cohorts 在两个拉丁美洲队列中探索外来混血与注意力缺陷多动障碍遗传易感性之间的关系。

IF 2.6 3区生物学

Journal of Human Genetics Pub Date : 2024-05-07 DOI: 10.1038/s10038-024-01246-5

Nicolás Garzón Rodríguez, Ignacio Briceño-Balcázar, Humberto Nicolini, José Jaime Martínez-Magaña, Alma D. Genis-Mendoza, Julio C. Flores-Lázaro, Jorge A. Villatoro Velázquez, Marycarmen Bustos Gamiño, Maria Elena Medina-Mora, Maria Fernanda Quiroz-Padilla

{"title":"Exploring the relationship between admixture and genetic susceptibility to attention deficit hyperactivity disorder in two Latin American cohorts","authors":"Nicolás Garzón Rodríguez, Ignacio Briceño-Balcázar, Humberto Nicolini, José Jaime Martínez-Magaña, Alma D. Genis-Mendoza, Julio C. Flores-Lázaro, Jorge A. Villatoro Velázquez, Marycarmen Bustos Gamiño, Maria Elena Medina-Mora, Maria Fernanda Quiroz-Padilla","doi":"10.1038/s10038-024-01246-5","DOIUrl":"10.1038/s10038-024-01246-5","url":null,"abstract":"Contemporary research on the genomics of Attention Deficit Hyperactivity Disorder (ADHD) often underrepresents admixed populations of diverse genomic ancestries, such as Latin Americans. This study explores the relationship between admixture and genetic associations for ADHD in Colombian and Mexican cohorts. Some 546 participants in two groups, ADHD and Control, were genotyped with Infinium PsychArray®. Global ancestry levels were estimated using overall admixture proportions and principal component analysis, while local ancestry was determined using a method to estimate ancestral components along the genome. Genome-wide association analysis (GWAS) was conducted to identify significant associations. Differences between Colombia and Mexico were evaluated using appropriate statistical tests. 354 Single-nucleotide polymorphisms (SNPs) and Single-nucleotide variants (SNVs) related to some genes and intergenic regions exhibited suggestive significance (p-value < 5*10e−5) in the GWAS. None of the variants revealed genome-wide significance (p-value < 5*10e−8). The study identified a significant relationship between risk SNPs and the European component of admixture, notably observed in the LOC105379109 gene. Despite differences in risk association loci, such as FOXP2, our findings suggest a possible homogeneity in genetic variation’s impact on ADHD between Colombian and Mexican populations. Current reference datasets for ADHD predominantly consist of samples with high European ancestry, underscoring the need for further research to enhance the representation of reference populations and improve the identification of ADHD risk traits in Latin Americans.","PeriodicalId":16077,"journal":{"name":"Journal of Human Genetics","volume":"69 8","pages":"373-380"},"PeriodicalIF":2.6,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11269173/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140876650","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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