Genome-wide association studies (GWASs) have revealed a large number of genetic risk loci for many autoimmune diseases. One clear finding emerging from the published genetic studies of autoimmunity is that different autoimmune diseases share susceptibility loci, such as psoriasis and systemic lupus erythematosus (SLE), share susceptibility loci. To identify additional susceptibility loci shared by psoriasis […]
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Genetic variants in CHI3L1 influencing YKL-40 levels: resequencing 900 individuals and genotyping 9000 individuals from the general population
YKL-40, is a plasma protein mainly produced by inflammatory cells and cancer cells during tissue remodelling processes. Consequently, plasma YKL-40 levels are elevated in patients with diseases characterized by inflammation and cancer. Despite its role in many serious diseases, the genetic background for plasma YKL-40 still has not been systematically catalogued. In this study, we […]
Criteria and prediction models for mismatch repair gene mutations: a review
Carrying a mismatch repair gene mutation substantially increases risk of colorectal, endometrial and other cancers (Lynch syndrome). Several criteria have been developed to triage colorectal cancer cases for genetic testing, and several statistical prediction tools have been developed to provide probability of having a mismatch repair gene mutation. We have systematically reviewed each of these […]
Comparison of the clinical scoring systems in Silver–Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing
Silver-Russell Syndrome is a rare imprinting disorder characterised by fetal and postnatal growth failure and body asymmetry. The spectrum of features is broad and it can be difficult to diagnose clinically. Furthermore, current genetic testing is only positive in about 50% of cases (the genetic basis for the remainder are currently unknown). We have evaluated […]
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis
The diagnosis of neurofibromatosis type I (NF1) has traditionally rested upon the presence of certain clinical features, including café-au-lait macules and freckling on the skin, and a variety of tumours, particularly neurofibromas. Skin changes are often the earliest manifestation, and therefore of particular significance when assessing people at risk of NF1. A rare, atypical, form […]
A novel statistical approach for RNA-seq data
Xiao Su, Ph.D. Candidate Division of Biostatistics, The University of Texas Health Science Center at Houston, Houston, TX, USA Recently, we published a paper that identifies genes with bimodal expression using next generation RNAseq data [1]. Identifying bimodally expressed genes is very important since such genes can be used to classify diseases and thus […]
CAG-SIZE SPECIFIC RISK ESTIMATES FOR INTERMEDIATE ALLELE REPEAT INSTABILITY IN HUNTINGTON DISEASE
New mutations for Huntington disease occur due to CAG repeat expansion of intermediate alleles. While intermediate alleles (27-35 CAG) usually do not confer the disease phenotype, they are prone to paternal germline CAG repeat instability. Consequently, they may expand into the HD range upon transmission to the next generation producing a new mutation. We report […]
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing
Mutations in at least 17 different genes can cause amyotrophic lateral sclerosis (ALS), and mutations in a further 16 are likely to increase susceptibility. In the most extensive study of its kind, we used modern DNA sequencing to characterize the relative contributions of these 33 disease genes to the risk of developing ALS in Ireland. […]
Confirmation of papillary thyroid cancer susceptibility loci identified by genome-wide association studies of chromosomes 14q13, 9q22, 2q35 and 8p12 in a Chinese population
Four candidate loci, rs965513 (9q22.33), rs944289 (14q13.3), rs966423 (2q35) and rs2439302 (8p12), identified by genome-wide association studies (GWAS) for papillary thyroid cancer (PTC) risk in European population were confirmed in a Chinese population. rs944289 was also associated with an increased benign thyroid tumor risk. The PTC risk of carriers of risk alleles was shown to […]
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing
Leber congenital amaurosis (LCA) is the most severe retinal disease that causes blindness or severe visual impairment within the 1st year of life. Besides the 19 known LCA genes, the association between other known retinal disease genes and LCA has not been systematically studied. Here we report the largest cohort of LCA patients that is […]