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The Genetic Influence on Corticosteroid-Induced Ocular Hypertension: A Field Positioned for Discovery.

PURPOSE: To provide evidence that corticosteroid-induced ocular hypertension has a genetic component. DESIGN: Evidence-based perspective. METHODS: We conducted a comprehensive literature search for studies exploring genetic influences on intraocular pressure responses to corticosteroid treatment. RESULTS: Studies demonstrating increased risk of corticosteroid-induced ocular hypertension among first-degree relatives of affected individuals support a genetic contribution to the disease. Family and personal history of primary open-angle glaucoma also increases the risk of corticosteroid-induce

Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington's Disease.

BACKGROUND: Huntington's disease (HD) is an inherited neurodegenerative disorder caused by an expanded CAG repeat in the HTT gene. It is diagnosed following a standardized examination of motor control and often presents with cognitive decline and psychiatric symptoms. Recent studies have detected genetic loci modifying the age at onset of motor symptoms in HD, but genetic factors influencing cognitive and psychiatric presentations are unknown. METHODS: We tested the hypothesis that psychiatric and cognitive symptoms in HD are influenced by the same common genetic variation as in the general p

Genetics of Triglycerides and the Risk of Atherosclerosis.

PURPOSE OF REVIEW: Plasma triglycerides are routinely measured with a lipid profile, and elevated plasma triglycerides are commonly encountered in the clinic. The confounded nature of this trait, which is correlated with numerous other metabolic perturbations, including depressed high-density lipoprotein cholesterol (HDL-C), has thwarted efforts to directly implicate triglycerides as causal in atherogenesis. Human genetic approaches involving large-scale populations and high-throughput genomic assessment under a Mendelian randomization framework have undertaken to sort out questions of causali

How to make DNA methylome wide association studies more powerful.

Genome-wide association studies had a troublesome adolescence, while researchers increased statistical power, in part by increasing subject numbers. Interrogating the interaction of genetic and environmental influences raised new challenges of statistical power, which were not easily bested by the addition of subjects. Screening the DNA methylome offers an attractive alternative as methylation can be thought of as a proxy for the combined influences of genetics and environment. There are statistical challenges unique to DNA methylome data and also multiple features, which can be exploited to i

A study of vertebra number in pigs confirms the association of vertnin and reveals additional QTL.

BACKGROUND: Formation of the vertebral column is a critical developmental stage in mammals. The strict control of this process has resulted in little variation in number of vertebrae across mammalian species and no variation within most mammalian species. The pig is quite unique as considerable variation exists in number of thoracic vertebrae as well as number of lumbar vertebrae. At least two genes have been identified that affect number of vertebrae in pigs yet considerable genetic variation still exists. Therefore, a genome-wide association (GWA) analysis was conducted to identify additiona

The genetic and environmental factors for keratoconus.

Keratoconus (KC) is the most common cornea ectatic disorder. It is characterized by a cone-shaped thin cornea leading to myopia, irregular astigmatism, and vision impairment. It affects all ethnic groups and both genders. Both environmental and genetic factors may contribute to its pathogenesis. This review is to summarize the current research development in KC epidemiology and genetic etiology. Environmental factors include but are not limited to eye rubbing, atopy, sun exposure, and geography. Genetic discoveries have been reviewed with evidence from family-based linkage analysis and fine ma

Characterization of genome-wide ordered sequence-tagged Mycobacterium mutant libraries by Cartesian Pooling-Coordinate Sequencing.

Reverse genetics research approaches require the availability of methods to rapidly generate specific mutants. Alternatively, where these methods are lacking, the construction of pre-characterized libraries of mutants can be extremely valuable. However, this can be complex, expensive and time consuming. Here, we describe a robust, easy to implement parallel sequencing-based method (Cartesian Pooling-Coordinate Sequencing or CP-CSeq) that reports both on the identity as well as on the location of sequence-tagged biological entities in well-plate archived clone collections. We demonstrate this a

Searching for the human genetic factors standing in the way of universally effective vaccines.

Vaccines have revolutionized modern public health. The effectiveness of some vaccines is limited by the variation in response observed between individuals and across populations. There is compelling evidence that a significant proportion of this variability can be attributed to human genetic variation, especially for those vaccines administered in early life. Identifying and understanding the determinants of this variation could have a far-reaching influence upon future methods of vaccine design and deployment. In this review, we summarize the genetic studies that have been undertaken attempti

Transgenerational epigenetics and brain disorders.

Neurobehavioral and psychiatric disorders are complex diseases with a strong heritable component; however, to date, genome-wide association studies failed to identify the genetic loci involved in the etiology of these brain disorders. Recently, transgenerational epigenetic inheritance has emerged as an important factor playing a pivotal role in the inheritance of brain disorders. This field of research provides evidence that environmentally induced epigenetic changes in the germline during embryonic development can be transmitted for multiple generations and may contribute to the etiology of b

GWAS in a box: statistical and visual analytics of structured associations via GenAMap.

With the continuous improvement in genotyping and molecular phenotyping technology and the decreasing typing cost, it is expected that in a few years, more and more clinical studies of complex diseases will recruit thousands of individuals for pan-omic genetic association analyses. Hence, there is a great need for algorithms and software tools that could scale up to the whole omic level, integrate different omic data, leverage rich structure information, and be easily accessible to non-technical users. We present GenAMap, an interactive analytics software platform that 1) automates the executi

Genetic correlates of medical comorbidity associated with schizophrenia and treatment with antipsychotics.

PURPOSE OF REVIEW: High comorbidity rates for various medical conditions have been documented in schizophrenia, being explained by factors either inherent to the disease or associated with antipsychotic treatment. The aim of this study is to review the genetic factors contributing to medical comorbidity in schizophrenia. RECENT FINDINGS: Based on clinical genetic studies in schizophrenia, comorbid impaired glucose tolerance/type 2 diabetes mellitus, most autoimmune disorders and cardiac autonomic dysregulation have the strongest evidence for familial predisposition. Similarly, of antipsychoti

PCSK6 is associated with handedness in individuals with dyslexia.

Approximately 90% of humans are right-handed. Handedness is a heritable trait, yet the genetic basis is not well understood. Here we report a genome-wide association study for a quantitative measure of relative hand skill in individuals with dyslexia [reading disability (RD)]. The most highly associated marker, rs11855415 (P = 4.7 × 10(-7)), is located within PCSK6. Two independent cohorts with RD show the same trend, with the minor allele conferring greater relative right-hand skill. Meta-analysis of all three RD samples is genome-wide significant (n = 744, P = 2.0 × 10(-8)). Conversely, in t…

Disentangling the relationship between psychiatric disorders, cardiometabolic abnormalities, and antipsychotics: A systematic review of genomic studies.

Psychiatric disorders are often comorbid with metabolic syndrome (MetS), suggesting shared genetic architecture. This systematic review investigated the genetic connections between psychiatric disorders, antipsychotic use, and MetS through genome-wide association studies and related genetic approaches. We systematically searched PubMed, Scopus, and Web of Science for relevant studies published between January 2005 and August 2025. Seventy-seven studies were included in the systematic review upon meeting the inclusion criteria. Substantial shared genetic architecture was found between psychiatr

A genomic structural equation modelling study elucidates shared genetic architecture of polygenic traits associated with post-intensive care syndrome.

Post-intensive care syndrome (PICS) is defined by persistent psychological, cognitive and physical impairments after critical illness, yet its shared genetic basis remains unknown. We applied genomic structural equation modeling (Genomic SEM) to large-scale GWAS summary statistics for major depressive disorder (N = 217,584), post-traumatic stress disorder (N = 199,213), cognitive function (N = 257,841), memory performance (N = 152,605) and hand grip strength (N = 461,089) to construct a latent genetic factor related to PICS component phenotypes. We then performed multivariate GWAS, Bayesian fi

Identification of TYR gene variants associated with white coat color in Hanwoo cattle using whole-genome sequencing.

BACKGROUND: Hanwoo cattle, a native Korean breed, display diverse coat colors, with White Hanwoo being extremely rare. Understanding the genetic basis of white coat color is essential for preserving genetic diversity and uncovering pigmentation mechanisms. This study aims to explore genetic differences between White and Brown Hanwoo and identify coat color-associated variants through genome-wide association study. RESULTS: Population structure analysis revealed clear genetic difference between the Brown Hanwoo (B×B) and White Hanwoo (W×W) groups. The W×W_White population exhibited the highest…

Dissecting the shared genetic architecture between migraine subtypes and cardiovascular diseases: a multi-layered genomic analysis.

BACKGROUND: Epidemiological studies have linked migraine to an increased risk of cardiovascular disease (CVD); however, the shared genetic basis and putative causal relationships between migraine subtypes and cardiovascular traits remain poorly understood. METHODS: Leveraging large-scale GWAS summary statistics for migraine phenotypes (overall migraine, migraine with aura [MA], and migraine without aura [MO]) from FinnGen R12, along with seven cardiovascular diseases from publicly available consortia, we conducted a multi-layered genetic analysis. This integrative framework encompassed geneti

Геномическая архитектура циркулирующих уровней цитокина указывает на цели лечения иммунных заболеваний.

Циркуляция цитокинес оркестрирует иммунную реакцию и является перспективной целью для лечения иммунных и подстрекательских заболеваний. Изучение генетической архитектуры циркулирующих уровней цитокина могло бы дать ключевые знания о причинно-следственных посредниках в связи с человеческими заболеваниями. Здесь мы провели исследования по общегеномной ассоциации (GWAS) 40 циркуляции цитокинов в мета-анализах 74,783 Люди. Мы обнаружили 359 между уровнями цитокина и вариантами 169 независимых лоси, включая 150 Транс- и 19 Носящая ножи лоси. Интеграция с транскриптивомными данными указывает на ключ

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… Mendelian randomization (MR) uses data from genome-wide association studies (GWAS) and offers a statistical framework for exploring associations between variants in genes encoding drug targets and disease traits 10 . … Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. Nat. Genet. 52 , 572–581 (2020). 111. Burrows, K. & Haycock, P. …

Functional Genomics and Insights into the Pathogenesis and Treatment of Psoriasis.

Psoriasis is a lifelong, systemic, immune mediated inflammatory skin condition, affecting 1-3% of the world's population, with an impact on quality of life similar to diseases like cancer or diabetes. Genetics are the single largest risk factor in psoriasis, with Genome-Wide Association (GWAS) studies showing that many psoriasis risk genes lie along the IL-23/Th17 axis. Potential psoriasis risk genes determined through GWAS can be annotated and characterised using functional genomics, allowing the identification of novel drug targets and the repurposing of existing drugs. This review is focuse