Wellcome Trust Centre for Human Genetics

About: Wellcome Trust Centre for Human Genetics is a facility organization based out in Oxford, United Kingdom. It is known for research contribution in the topics: Population & Genome-wide association study. The organization has 2122 authors who have published 4269 publications receiving 433899 citations.

Clinical features and molecular bases of neuroacanthocytosis

Abstract: The term acanthocytosis is derived from the Greek for "thorn" and is used to describe a peculiar spiky appearance of erythrocytes Acanthocytosis is found to be associated with at least three hereditary neurological disorders that are generally referred to as neuroacanthocytosis Abetalipoproteinaemia is an autosomal recessive condition, characterised by absence of serum apolipoprotein B containing lipoproteins leading to fat intolerance and fat-soluble vitamin deficiency This results in a progressive spinocerebellar ataxia with peripheral neuropathy and retinitis pigmentosa Chorea-acanthocytosis is also an autosomal recessive condition and is characterised by chorea, orofaciolingual dyskinesia, dysphagia, dysarthria, areflexia, seizures and dementia Some of its features, including choreic movements, peripheral neuropathy with areflexia, elevated serum creatine kinase levels and myopathy are shared by another form of neuroacanthocytosis, McLeod syndrome Patients affected by this X-linked disorder also show abnormal expression of Kell blood group antigens and a permanent haemolytic state In addition to these cases, acanthocytosis is occasionally associated with other neurological disorders, such as Hallervorden-Spatz disease For each of the neuroacanthocytosis syndromes we review the main clinical features and their molecular bases The recent molecular genetics findings are the first step towards the understanding of the pathogenetic mechanisms and eventually the search for effective treatments

A genetic landscape reshaped by recent events: Y-chromosomal insights into central Asia.

Abstract: Sixteen Y-chromosomal microsatellites and 16 binary markers have been used to analyze DNA variation in 408 male subjects from 15 populations in Central Asia. Large genetic differences were found between populations, but these did not display an obvious geographical or linguistic pattern like that usually seen for Y-chromosomal variation. Nevertheless, an underlying east-west clinal pattern could be detected by the Autocorrelation Index for DNA Analysis and admixture analysis, and this pattern was interpreted as being derived from the ancient peopling of the area, reinforced by subsequent migrations. Two particularly striking features were seen: an extremely high level of Y-chromosomal differentiation between geographically close populations, accompanied by low diversity within some populations. These were due to the presence of high-frequency population-specific lineages and suggested the occurrence of several recent bottlenecks or founder events. Such events could account for the lack of a clear overall pattern and emphasize the importance of multiple recent events in reshaping this genetic landscape.

Assessing publication bias in genetic association studies: evidence from a recent meta-analysis.

Abstract: Publication bias may exist when nonsignificant findings remain unpublished, thereby artificially inflating the apparent magnitude of an effect. This concern is not new, but it is particularly current in relation to genetic association studies. Data from a recent meta-analysis of association studies of personality were used to assess the potential of different graphical and statistical methods for assessing evidence of publication bias. The results suggest that no single method is sufficient for assessing evidence of publication bias, and that such methods may also offer insight into potential sources of heterogeneity, which may in turn guide the design of future studies.