Browsing Department of Clinical Science by Title
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The genetic architecture of human brainstem structures and their involvement in common brain disorders
(Journal article, 2020)Brainstem regions support vital bodily functions, yet their genetic architectures and involvement in common brain disorders remain understudied. Here, using imaging-genetics data from a discovery sample of 27,034 individuals, ... -
The genetic architecture of sporadic and multiple consecutive miscarriage
(Journal article; Peer reviewed, 2020)Miscarriage is a common, complex trait affecting ~15% of clinically confirmed pregnancies. Here we present the results of large-scale genetic association analyses with 69,054 cases from five different ancestries for sporadic ... -
The genetic architecture of the human cerebral cortex
(Journal article; Peer reviewed, 2020)INTRODUCTION The cerebral cortex underlies our complex cognitive capabilities. Variations in human cortical surface area and thickness are associated with neurological, psychological, and behavioral traits and can be ... -
Genetic biomarkers as prognostic and predictive factors in metastatic malignant melanoma
(Doctoral thesis, 2010-10-26)Malignant melanoma is one of the most chemoresistant malignancies in man. Although effort is put into developing new drugs to treat metastatic melanoma, still dacarbazine, an alkylating agent approved in 1975 for therapeutic ... -
Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949)
(Peer reviewed; Journal article, 2015)General cognitive function is substantially heritable across the human life course from adolescence to old age. We investigated the genetic contribution to variation in this important, health- and well-being-related trait ... -
Genetic control of variability in subcortical and intracranial volumes
(Journal article; Peer reviewed, 2020)Sensitivity to external demands is essential for adaptation to dynamic environments, but comes at the cost of increased risk of adverse outcomes when facing poor environmental conditions. Here, we apply a novel methodology ... -
Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults
(Journal article; Peer reviewed, 2020)Cortical thickness, surface area and volumes vary with age and cognitive function, and in neurological and psychiatric diseases. Here we report heritability, genetic correlations and genome-wide associations of these ... -
Genetic determinants of macrolide and tetracycline resistance in penicillin non-susceptible Streptococcus pneumoniae isolates from people living with HIV in Dar es Salaam, Tanzania
(Journal article; Peer reviewed, 2023-02-20)Background: Over one million yearly deaths are attributable to Streptococcus pneumoniae and people living with HIV are particularly vulnerable. Emerging penicillin non-susceptible Streptococcus pneumoniae (PNSP) challenges ... -
Genetic diversity in the metronidazole metabolism genes nitroreductases and pyruvate ferredoxin oxidoreductases in susceptible and refractory clinical samples of Giardia lamblia
(Journal article; Peer reviewed, 2023)The effectiveness of metronidazole against the tetraploid intestinal parasite Giardia lamblia is dependent on its activation/inactivation within the cytoplasm. There are several activating enzymes, including pyruvate ... -
Genetic diversity of circulating rotavirus strains in Tanzania prior to the introduction of vaccination
(Peer reviewed; Journal article, 2014-05-20)Background: Tanzania currently rolls out vaccination against rotavirus-diarrhea, a major cause of child illness and death. As the vaccine covers a limited number of rotavirus variants, this study describes the molecular ... -
Genetic diversity of the flavohemoprotein gene of Giardia lamblia: Evidence for high allelic heterozygosity and copy number variation
(Journal article; Peer reviewed, 2020)Purpose: The flavohemoprotein (gFlHb) in Giardia plays an important role in managing nitrosative and oxidative stress, and potentially also in virulence and nitroimidazole drug tolerance. The aim of this study was to analyze ... -
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16
(Journal article; Peer reviewed, 2021)Variants in STUB1 cause both autosomal recessive (SCAR16) and dominant (SCA48) spinocerebellar ataxia. Reports from 18 STUB1 variants causing SCA48 show that the clinical picture includes later-onset ataxia with a cerebellar ... -
Genetic effects on the timing of parturition and links to fetal birth weight
(Journal article; Peer reviewed, 2023)The timing of parturition is crucial for neonatal survival and infant health. Yet, its genetic basis remains largely unresolved. We present a maternal genome-wide meta-analysis of gestational duration (n = 195,555), ... -
Genetic interaction analysis among oncogenesis-related genes revealed novel genes and networks in lung cancer development
(Peer reviewed; Journal article, 2019)The development of cancer is driven by the accumulation of many oncogenesis-related genetic alterationsand tumorigenesis is triggered by complex networks of involved genes rather than independent actions. To explore the ... -
Genetic Overlap Between Alzheimer’s Disease and Bipolar Disorder Implicates the MARK2 and VAC14 Genes
(Peer reviewed; Journal article, 2019-03-13)Background: Alzheimer’s disease (AD) and bipolar disorder (BIP) are complex traits influenced by numerous common genetic variants, most of which remain to be detected. Clinical and epidemiological evidence suggest that AD ... -
Genetic Overlap Between Global Cortical Brain Structure, C-Reactive Protein, and White Blood Cell Counts
(Journal article; Peer reviewed, 2024)Background For many brain disorders, a subset of patients jointly exhibit alterations in cortical brain structure and elevated levels of circulating immune markers. This may be driven in part by shared genetic architecture. ... -
Genetic Predictors of Comorbid Course of COVID-19 and MAFLD: A Comprehensive Analysis
(Journal article; Peer reviewed, 2023)Metabolic-associated fatty liver disease (MAFLD) and its potential impact on the severity of COVID-19 have gained significant attention during the pandemic. This review aimed to explore the genetic determinants associated ... -
Genetic relatedness and risk factor analysis of ampicillin-resistant and high-level gentamicin-resistant enterococci causing bloodstream infections in Tanzanian children
(Peer reviewed; Journal article, 2015-02-28)Background While enterococci resistant to multiple antimicrobials are spreading in hospitals worldwide, causing urinary tract, wound and bloodstream infections, there is little published data on these infections from Africa. ... -
Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease
(Peer reviewed; Journal article, 2014-09-21)Background: Chronic bronchitis (CB) is one of the classic phenotypes of COPD. The aims of our study were to investigate genetic variants associated with COPD subjects with CB relative to smokers with normal spirometry, and ... -
Genetic variability of proteins involved in metronidazole metabolism and detoxification in Giardia lamblia
(Doctoral thesis, 2021-12-09)Metronidazole (MTZ) treatment-refractory Giardia lamblia infections is an emerging global problem. Recent studies show that prevalence rates of refractory infections are 10-20 % and can be as high as 46 %. The recent global ...