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世界医学遗传学杂志

世界医学遗传学杂志

  • 发文量：39
  • 被引量：4
  • H指数：0
  • 开始收录时间：2011,1(1)
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  • 创刊时间：2011
  • 国内刊号/CN：-
    国际刊号/ISSN：2220-3184
  • 发行周期：不定期
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    主办单位：百世登出版集团有限公司
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  • 主编：马连生
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  • 地址：北京市朝阳区东四环中路62号楼远洋国际中心D座903室
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世界医学遗传学杂志 >2023年第3期

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  • 摘要：Congratulations to the publisher,members of the editorial board of the journal,all the authors and readers for launching the World Journal of Medical Genetics(WJMG)as a new member of the World series journal family!Following the completion of the Human Genome Project,medical genetic research has seen spectacular progress over the last decade.The number of genes that have been linked to Mendelian human traits has grown exponentially and currently this process is peaking with the access to robust genome-wide sequencing power.The genomics revolution is also seen for elucidation of rare and common DNA variants that increase risk for common disorders.Given this fast progress,there is an increasing need for making the results of genetics and genomics studies rapidly and freely available to the larger community.Thus,the decision for inaugurating this new journal is a timely one.The WJMG is a peer-reviewed,open-access periodical centered in all aspects of medical genetics research,with multidisciplinary coverage:from human phenotype to genetic and genomic mutations and variations to the study of pathological mechanisms.If you want to share new results of your research with a link to medical genetics with your peers,you will find the WJMG a good media to publish your papers!
  • 摘要：Psychiatric disorders have traditionally been segregated from medical disorders in terms of drugs,treatment,insurance coverage and training of clinicians.This segregation is consistent with the long-standing observation that there are inherent differences between psychiatric disorders(diseases relating to thoughts,feelings and behavior)and medical disorders(diseases relating to physical processes).However,these differences are growing less distinct as we improve our understanding of the roles of epistasis and pleiotropy in medical genetics.Both psychiatric and medical disorders are predisposed in part by genetic variation,and psychiatric disorders tend to be comorbid with medical disorders.One hypothesis on this interaction posits that certain combinations of genetic variants(epistasis)influence psychiatric disorders due to their impact on the brain,but the associated genes are also expressed in other tissues so the same groups of variants influence medical disorders(pleiotropy).The observation that psychiatric and medical disorders may interact is not novel.Equally,both epistasis and pleiotropy are fundamental concepts in medical genetics.However,we are just beginning to understand how genetic variation can influence both psychiatric and medical disorders.In our recent work,we have discovered gene networks significantly associated with psychiatric and substance use disorders.Invariably,these networks are also significantly associated with medical disorders.Recognizing how genetic variation can influence both psychiatric and medical disorders will help us to understand the etiology of the individual and comorbid disease phenotypes,predict and minimize side effects in drug and other treatments,and help to reduce stigma associated with psychiatric disorders.
  • 摘要：Identification of the cell origin of human neoplasms remains a challenging but important task in cancer research.The outcomes in this area of study may allow us to design novel strategies for early cancer detection and targeted cancer therapeutics.Skin is a great organ to study cancer stem cells because stem cells in skin have been well investigated and approaches of genetic manipulation in specific cell compartments are available to mimic clinical skin cancer in a mouse model.Recently,by using different genetic engineered mouse models,several groups have tried to discover which cell type in skin was responsible for the initiation of basal cell carcinoma,the most common type of skin cancer.These studies raised more questions but also showed more ways for future investigation.
  • 摘要：Genetic interactions are functional crosstalk among different genetic loci that lead to phenotypic changes,such as health or viability alterations.A disease or lethal phenotype that results from the combined effects of gene mutations at different loci is termed a synthetic sickness or synthetic lethality,respectively.Studies of genetic interaction have provided insight on the relationships among biochemical processes or pathways.Cancer results from genetic interactions and is a major focus of current studies in genetic interactions.Various basic and translational cancer studies have explored the concept of genetic interactions,including studies of the mechanistic characterization of genes,drug discovery,biomarker identification and the rational design of combination therapies.This review discusses the implications of genetic interactions in the development of personalized cancer therapies,the identification of treatment-responsive genes,the delineation of mechanisms of chemoresistance and the rational design of combined therapeutic strategies to overcome drug resistance.
  • 摘要：wide association studies(GWAS)in recent years.Since the identification of variants in the complement factor H gene on the risk of age-related macular degeneration,GWAS have become ubiquitous in genetic studies and have led to the identification of genetic variants that are associated with a variety of complex human diseases and traits.These discoveries have changed our understanding of the biological architecture of common,complex diseases and have also provided new hypotheses to test.New tools,such as next-generation sequencing,will be an important part of the future of genetics research;however,GWAS studies will continue to play an important role in disease gene discovery.Many traits have yet to be explored by GWAS,especially in minority populations,and large collaborative studies are currently being conducted to maximize the return from existing GWAS data.In addition,GWAS technology continues to improve,increasing genomic coverage for major global populations and decreasing the cost of experiments.Although much of the variance attributable to genetic factors for many important traits is still unexplained,GWAS technology has been instrumental in mapping over a thousand genes to hundreds of traits.More discoveries are made each month and the scale,quality and quantity of current work has a steady trend upward.We briefly review the current key trends in GWAS,which can be summarized with three goals:increase power,increase collaborations and increase populations.
  • 摘要：There continues to be an increase in utilization of assisted reproductive technology(ART), including the use of third party gametes. Specifically, the use of third party oocytes, most recently reported in 2010 by the United States(US) Center for Disease Control and Society of Reproductive Medicine, accounted for 15 504 cycles and 7334 live births. This translates into approximately 11% of all the in vitro fertilization cases performed in the US. As utilization increases and the technological tools advance, they have created underappreciated and unforeseen ethical quandaries. As such, many practitioners think they "have heard it all". However, each ART scenario is novel with the potential to pose complex unforeseen issues, potentially creating global challenges that could impact broad social and legal questions and test the moral consciousness' of practitioners, policymakers and patients. While there are published US national guidelines to assist practitioners, we have identified new complex issues in assisted reproduction that present unique challenges, and we give a perspective from oureyes in the Western Hemisphere looking out to a global level. Specifically, this review focuses on some of the more recent and evolving issues that currently are and will be confronting us in the upcoming years. Particular attention focuses on discrepancies between third party legal contracts and ART consents regarding level of information sharing, and oocyte and embryo directives and management; dilemmas and obligations surrounding disclosure of medical outcomes especially in the context of growing access to Direct to Consumer genetic testing and Reproductive Tourism-Exile. Given the complexity of these and other ethical questions, finding answers may be achieved by ending the isolation of reproductive professionals and instead promoting increased and consistent communication among physicians, embryologists, therapists and reproductive attorneys to confront these evolving ethical quandaries.
  • 摘要：Preimplantation genetic testing refers to the procedure to determine the genetic status of embryos formed by in vitro fertilization(IVF) prior to initiating a pregnancy.Traditional genetic methods for preimplantation genetic diagnosis(PGD) examine distinct parts of an individua genome, require the development of a custom assay for every patient family, and are time consuming and inefficient. In the last decade technologies for wholegenome amplification(WGA) from single cells have led to innovative strategies for preimplantation testing.Applications of WGA technology can lead to a universa approach that uses single-nucleotide polymorphisms(SNPs) and mutations across the entire genome for the analysis. Single-cell WGA by multiple displacement amplification has enabled a linkage approach to PGD known as "preimplantation genetic haplotyping", as well as microarray-based techniques for preimplantation diagnosis. The use of microarrays in preimplantation diagnosis has provided genome-wide testing for gains or losses of single chromosomes(aneuploidies)or chromosomal segments. Properly designed randomized controlled trials are, however, needed to determine whether these new technologies improve IVF outcomes by increasing implantation rates and decreasing mis-carriage rates. In genotype analysis of single cells, allele dropout occurs frequently at heterozygous loci. Preimplantation testing of multiple cells biopsied from blastocysts, however, can reduce allele dropout rates and increase the accuracy of genotyping, but it allows less time for PGD. Future development of fast SNP microarrays will enable a universal preimplantation testing for aneuploidies, single-gene disorders and unbalanced translocations within the time frame of an IVF cycle.
  • 摘要：AIM: To investigate the prevalence of fragile X syndrome(FXS) in intellectually disabled male and female Indonesians.METHODS: This research is an extension of a previously reported study on the identification of chromosomal aberrations in a large cohort of 527 Indonesians with intellectual disability(ID). In this previous study,87 patients had a chromosomal abnormality, five of whom expressed fragile sites on Xq27.3. Since FXS cannot always be identified by cytogenetic analysis, molecular testing of the fragile X mental retardation 1 CGG repeat was performed in 440 samples. The testing was also conducted in the five previously identified samples to confirm the abnormality. In total, a molecular study was conducted in 445 samples(162 females and 283 males).RESULTS: In the cohort of Indonesian ID population, the prevalence of FXS is 9/527(1.7%). The prevalence in males and females is 1.5%(5/329) and 2%(4/198), respectively. Segregation analysis in the families and X-inactivation studies were performed. We performed the first comprehensive genetic survey of a representative sample of male and female ID individuals from institutions and special schools in Indonesia. Our findings show that a comprehensive study of FXS can be performed in a developing country like Indonesia where diagnostic facilities are limited.CONCLUSION: The prevalence of FXS is equal in females and males in our study, which suggests that the prevalence of FXS in females could be underestimated.
  • 摘要：Wiedemann-Steiner syndrome(OMIM#605130)is a rare congenital malformation syndrome characterized by hypertrichosis cubiti associated with short stature;consistent facial features,including long eyelashes,thick or arched eyebrows with a lateral flare,wide nasal bridge,and downslanting and vertically narrow palpebral fissures;mild to moderate intellectual disability;behavioral difficulties;and hypertrichosis on the back.It is caused by heterozygous pathogenic variants in KMT2A.This gene has an established role in histone methylation,which explains the overlap of Wiedemann-Steiner syndrome with other chromatinopathies,a heterogeneous group of syndromic conditions that share a common trigger:The disruption of one of the genes involved in chromatin modification,leading to dysfunction of the epigenetic machinery.
  • 摘要：BACKGROUND Celiac sprue,or celiac disease,is a relatively common disease whereby many are unaware that they have it.It often manifests with symptoms outside of the digestive system.Many health care providers are unaware of the wide variety of symptoms of celiac disease as well as diseases that are associated with it,often delaying diagnosis and treatment.CASE SUMMARY The following case indicates an otherwise healthy 20-year-old female who presents with a variety of symptoms and is ultimately diagnosed with shingles,infectious mononucleosis,and celiac disease CONCLUSION Although it is known that risk-factors are genetic as well as environmental,much more research is needed to better understand the relationship of potential causes.In addition,continuing education is needed in health care so that more practitioners better understand celiac disease.
  • 摘要：BACKGROUND Epigenetic disruptions have been implicated in some cases of infertility and can serve as therapeutic targets.However,the involvement of epigenetics in infertility has not received adequate attention.AIM This study aimed to determine the epigenetic basis of infertility in order to enhance public knowledge.METHODS Relevant articles on the subject were collected from PubMed,RCA,Google Scholar,SpringerLink,and Scopus.The articles were pooled together and duplicates were removed using Endnote software.RESULTS Available information shows that epigenetic mechanisms,mainly DNA methylation,histone modification,and microRNA interference are necessary for normal gametogenesis and embryogenesis.As a result,epigenetic disruptions in genes that control gametogenesis and embryogenesis,such as DDX3X,ADH4,AZF,PLAG1,D1RAS3,CYGB,MEST,JMJD1A,KCNQ1,IGF2,H19,and MTHFR may result in infertility.Aberrant DNA methylation during genomic imprinting and parental epigenetic mark erasures,in particular,may affect the DNA epigenomes of sperm and oocytes,resulting in reproductive abnormalities.in the sperm may also cause reproductive abnormalities.Furthermore,overexpression or repression of certain microRNAs embedded in the ovary,testis,embryo,as well as granulosa cells and oocytes may impair reproduction.Male infertility is characterized by spermatogenesis failure,which includes oligozoospermia,asthenozoospermia,and teratozoospermia,while female infertility is characterized by polycystic ovary syndrome.Some epigenetic modifications can be reversed by deactivating the regulatory enzymes,implying that epigenetic reprogramming could help treat infertility in some cases.For some disorders,epigenetic drugs are available,but none have been formulated for infertility.CONCLUSION Some cases of infertility have an epigenetic etiology and can be treated by reversing the same epigenetic mechanism that caused it.As a result,medical practitioners are urged to come up with epigenetic treatments for infertility that have an epigenetic cause.
  • 摘要：BACKGROUND Tetrasomy 18p is a rare chromosome abnormality disorder known to have consid-erable variability in clinical features and gathering data from different cases will help clinicians and researchers learn about its genotype-phenotype relationship and diagnosis.CASE SUMMARY Herein,we have reviewed the literature on phenotypic features of this disorder and described the phenotypic and cytogenetic features of a girl of early childhood with tetrasomy 18p for the first time from Iran.This patient showed a strong sense of smell(a unique feature not reported previously for this syndrome),had clenched hand,pes planus,forward head posture in walking and hirsutism(dysmorphic features less reported),and showed 10 clinical features that are generally observed in previously reported cases,including developmental delay/intellectual disability,triangular face,smooth philtrum,feeding difficulties,hypotonia,epicanthus,strabismus,history of constipation,growth retardation and foot anomalies.G-banding chromosome analysis from peripheral blood revealed an abnormal female karyotype with a small marker chromosome(47,XX,+mar),and oligo-array comparative genomic hybridization displayed a gain of 14Mb of the 18p arm containing 56 Online Mendelian Inheritance in Man(OMIM)genes in this patient.Overall,this patient seems to have mild phenotypes.CONCLUSION This Iranian tetrasomy 18p child displays a uniquely strong sense of smell,some less reported dysmorphic features and ten features generally reported.
  • 摘要：BACKGROUND KBG syndrome is likely underdiagnosed because of mild and non-specific features in some affected patients especially before the upper permanent central incisors eruption at about the age of 7-8 years.Somatic mosaicisms are usually recognized in the parents only after a typically affected son is diagnosed with KBG syndrome.We describe for the first time the mosaicism of a novel variant in a child with a mild KBG phenotype.CASE SUMMARY Our patient presented at 24 mo of age with short stature,hand abnormalities,facial dysmorphism and mild developmental delay.Pituitary hypoplasia and central hypothyroidism were also detected.By next generation sequencing(NGS)analysis we found a novel deletion in the ANKRD11 gene(c.4880_4893del.),that can be classified as likely pathogenic for the syndrome,with the percentage of mutated allele of 36%.We considered this finding as causative of the mild and non-specific phenotype for KBG syndrome in our patient,as previously reported in adults.A heterozygous variant in HESX1 gene,classified as variant of uncertain significance,but suspected of causing pituitary hypoplasia and hormonal deficiency,was also found.The patient started levothyroxine and growth hormone treatment.CONCLUSION The increased use of NGS analysis may expand the phenotypic spectrum of KBG syndrome because it allows genetic diagnosis of somatic mosaicisms also in children.
  • 摘要：BACKGROUND John Henryism(JH)is a strategy for dealing with chronic psychological stress characterized by high levels of physical effort and work.Cynicism is a belief that people are motivated primarily by self-interest.High scores on the JH scale and cynicism measures correlate with an increased risk of cardiovascular disease.High cynicism is also a hallmark of burnout syndrome,another known risk factor for heart disease.AIM To evaluate possible interactions between JH and cynicism hoping to clarify risk factors of burnout.METHODS We analyzed genetic and psychological data available from the Database of Genotypes and Phenotypes for genome-wide associations with these traits.We split the total available samples and used plink to perform the association studies on the discovery set(n=1852,80%)and tested for replication using the validation set(n=465).We used scikit-learn to perform supervised machine learning for developing genetic risk algorithms.RESULTS We identified 2,727,and 204 genetic associations for scores on the JH,cynicism and cynical distrust(CD)scales,respectively.We also found 173 associations with high cynicism,109 with high CD,but no associations with high JH.We also produced polygenic classifiers for high cynicism using machine learning with areas under the receiver operator characteristics curve greater than 0.7.CONCLUSION We found significant genetic components to these traits but no evidence of an interaction.Therefore,while there may be a genetic risk,JH is not likely a burnout risk factor.
  • 摘要：Interleukin-2(IL-2)is an important cytokine that plays a key role in the immune response.The IL-2 receptor(IL-2R)is composed of three subunits,alpha,beta,and gamma,with the alpha subunit having the highest affinity for IL-2.Several studies reported that immune dysregulation of IL-2 may cause tissue injury as well as damage leading to the pathogenesis of various autoimmune diseases such as acute necrotizing vasculitis in systemic lupus erythematosus(SLE),inflammatory synovitis in rheumatoid arthritis(RA),salivary and lacrimal gland dysfunction in Sjogren syndrome(SS),obliterative vasculopathy fibrosis in systemic sclerosis(SSc),and inflammatory demyelination in multiple sclerosis(MS).The aim of this review paper was to examine the role of IL-2/IL-2R in various autoimmune disorders,taking into account recent advancements and discoveries,gaps in the current literature,ongoing debates,and potential avenues for future research.The focus of this review is on systemic lupus erythematosus,rheumatoid arthritis,systemic sclerosis,sjogren syndrome,and multiple sclerosis,which are all linked to the malfunctioning of IL-2/IL-2R.In genetic studies,gene polymorphisms of IL-2 such as IL-2330/T,IL-2330/G,and rs2069763 are involved in increasing the risk of SLE.Furthermore,genetic associations of IL-2/IL-2R such as rs791588,rs2281089,rs2104286,rs11594656,and rs35285258 are significantly associated with RA susceptibility.The IL-2 polymorphism including rs2069762A,rs6822844T,rs6835457G,and rs907715T are significant connections with systemic sclerosis.In addition,rs2104286(IL-2),rs11594656(IL-2RA),rs35285258(IL-2RB)gene polymorphism significant increases the risk of multiple sclerosis.In therapeutic approaches,low-dose IL-2 therapy could regulate Tfr and Tfh cells,resulting in a reduction in disease activity in the SLE patients.In addition,elevated sIL-2R levels in the peripheral blood of SLE patients could be linked to an immunoregulatory imbalance,which may contribute to the onset and progression of SLE.Consequently,sIL-2R could potentially be a target for future SLE therapy.Moreover,Low dose-IL2 was well-tolerated,and low levels of Treg and high levels of IL-21 wereassociated with positive responses to Ld-IL2 suggested to be a safe and effective treatment for RA.Additionally,low-dose IL-2 treatment improves the exocrine glands'ability to secrete saliva in SS-affected mice.Whereas,Basiliximab targets the alpha chain of the IL-2 receptor suggested as a potential treatment for SSc.Also,pre-andpost-treatment with Tregs,MDSCs,and IL-2 may have the potential to prevent EAE induction in patients with MS.It is suggested that further studies should be conducted on IL-2 polymorphism in Sjogren syndrome.

    世界医学遗传学杂志的期刊信息

    • 创刊时间：2011
    • 地区：CN
    • 语言：中文
    • 热门主题：GENETIC CANCER MUTATION GENOMIC GENETICS CELL NUCLEOTIDE ANEUPLOIDY PREIMPLANTATION HYPOXIA
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    • 邮编：100025
    • 邮箱：y.j.ma@wjgnet.com
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