Gene Variant

Source: www.nih.gov --- 4 days ago
About 20 percent of isolated cleft lip, one of the world’s most common birth defects, may be due to a one-letter difference in the DNA sequence of a Gene involved in facial development, researchers supported by the National Institutes of Health report. ...

Source: www.ncbi.nlm.nih.gov --- 6 days ago
Related Articles 'Fat mass and obesity associated' Gene (FTO): no significant association of Variant rs9939609 with weight loss in a lifestyle intervention and lipid metabolism markers in German obese children and adolescents. BMC Med Genet. 2008;9:85 Authors: Müller TD, Hinney A, Scherag A, Nguyen TT, Schreiner F, Schäfer H, Hebebrand J, Roth CL, Reinehr T BACKGROUND: We have previously identified strong association of six single nucleotide polymorphisms (SNPs) in FTO (fat mass and obesity associated Gene) to early onset extreme obesity within the first genome wide association study (GWA) for this phenotype. The aim of this study was to investigate whether the obesity risk allele of one of these SNPs (rs9939609) is associated with weight loss in a lifestyle intervention program. Additionally, we tested for association of rs9939609 alleles with fasting blood parameters indicative of glucose and lipid metabolism. METHODS: We initially analysed rs9939609 in a case-control study comprising 519 German overweight and obese children and adolescents and 178 normal weight adults. In 207 of the obese individuals who took part in the outpatient obesity intervention program 'Obeldicks' we further analysed whether carrier status of the obesity risk A-allele of rs9939609 has a differential influence on weight loss after the intervention program. Additionally, we investigated in 480 of the overweight and obese patients whether rs9939609 is associat ...

Source: www.ncbi.nlm.nih.gov --- 8 days ago
Related Articles A common Variant in the 3'UTR of the GRIK4 glutamate receptor Gene affects transcript abundance and protects against bipolar disorder. Proc Natl Acad Sci U S A. 2008 Sep 29; Authors: Pickard BS, Knight HM, Hamilton RS, Soares DC, Walker R, Boyd JK, Machell J, Maclean A, McGhee KA, Condie A, Porteous DJ, Clair D, Davis I, Blackwood DH, Muir WJ Underactivity of the glutamatergic system is an attractive model for the pathophysiology of several major mental illnesses. We previously described a chromosome abnormality disrupting the kainate class ionotropic glutamate receptor Gene, GRIK4/KA1, in an individual with schizophrenia and learning disability (mental retardation). We also demonstrated in a case-control study that two physically separated haplotypes within this Gene were significantly associated with increased risk of schizophrenia and decreased risk of bipolar disorder, respectively. The latter protective haplotype was located at the 3' end of the Gene. We now report the identification from carriers of the protective haplotype of a deletion Variant within the 3' untranslated region of the Gene. The deletion allele also was found to be negatively associated with bipolar disorder in both initial (P = 0.00000019) and replication (P = 0.0107) case-control studies. Expression studies indicated that deletion-carrying mRNA transcripts were relatively more abundant. We postulate that this may be a direct consequence of the ...

Source: www.ncbi.nlm.nih.gov --- 11 days ago
Related Articles A paucimorphic Variant in the HMG-CoA reductase Gene is associated with lipid-lowering response to statin treatment in diabetes: a GoDARTS study. Pharmacogenet Genomics. 2008 Sep 23; Authors: Donnelly LA, Doney AS, Dannfald J, Whitley AL, Lang CC, Morris AD, Donnan PT, Palmer CN BACKGROUND: Considerable interindividual variation exists in cholesterol-lowering response to 3-hydroxy-3-methylglutaryl coenzyme A reductase (HMGCR) inhibitors (statins). HMGCR catalyzes the rate-limiting step in cholesterol biosynthesis, and also plays a significant role in cholesterol homeostasis. We evaluated the association of a single nucleotide polymorphism (rs17238540) in the HMGCR Gene with lipid-lowering response to statins in a large population-based cohort of patients with diabetes. METHODS: One thousand six hundred and one patients commencing statins between 1993 and 2006 were identified from the Genetics of Diabetes Audit and Research in Tayside Scotland database. Statin response was determined by both percentage change in lipids, and whether patients failed to reach a total cholesterol target of less than or equal to 4 mmol/l. Covariates included HMGCR genotype, baseline lipids, age, sex, adherence and statin dose. All patients were genotyped for rs17238540 using a TAQMAN-based allelic discrimination assay. RESULTS: Twenty-eight percent of individuals homozygous for the more frequent T allele failed to reach target compared with ...

Source: www.dailymail.co.uk --- 9 days ago
A Gene related to a hormone secreted by the body's fat cells may lower the risk of colon cancer, say researchers who think the discovery could reassure people with a family history of the disease. ...

Source: www.fwicki.com --- 11 days ago
ScienceDaily (Sep. 27, 2008) ? Researchers at UT Southwestern Medical Center have found that individuals who carry a specific form of the Gene PNPLA3 have more fat in their livers and a greater risk of developing liver inflammation. They also found ... ...

Source: www.medicinenet.com --- 9 days ago
Title: Vitamin D Receptor Gene Variant Tied to Melanoma Category: Health News Created: 9/23/2008 2:00:00 AM Last Editorial Review: 9/23/2008 ...

Source: www.MedicalDeviceGuru.com --- 8 days ago
Researchers at UT Southwestern Medical Center have found that individuals who carry a specific form of the Gene PNPLA3 have more fat in their livers... ...

Source: www.topix.com --- 7 hours ago
About 20 percent of isolated cleft lip, one of the world's most common birth defects, may be due to a one-letter difference in the DNA sequence of a Gene involved in facial development, researchers supported by ... ...

Source: www.medwire-news.md --- 11 hours ago
A novel genetic Variant of the ionotropic glutamate receptor kainate-4 Gene is underrepresented in patients with bipolar disorder and may protect against development of the illness, study results suggest. ...

Source: www.cancer.org --- 5 days ago
A new analysis indicates an association between a Gene involved in vitamin D metabolism and skin cancer. ...

Source: www.msnbc.msn.com --- 11 days ago
Scientists in Japan have identified a Gene Variant that may be linked to narcolepsy -- a condition marked by excessive daytime sleepiness, impaired vision and muscle weakness. ...

Source: www.ncbi.nlm.nih.gov --- 1 day ago
Related Articles The ACE Insertion Deletion polymorphism relates to dementia by metabolic phenotype, APOEvarepsilon4, and age of dementia onset. Neurobiol Aging. 2008 Oct 4; Authors: Gustafson DR, Melchior L, Eriksson E, Sundh V, Blennow K, Skoog I The renin-angiotensin system (RAS) may play a role in dementia pathogenesis because of its effects on vascular and metabolic homeostasis, amyloid metabolism, and learning and memory. The angiotensin-converting enzyme (ACE), a pivotal RAS protein, is encoded for by a Gene containing a functional ID Variant, which has been related to dementia risk. We examined the relationship between the ACE Insertion Deletion (ACE ID) Variant and dementia with consideration for metabolic phenotypes, age and APOEvarepsilon4 using a population-based, cross-sectional sample of 891 Swedish women and men aged 70-92 years, of whom 61 people were demented. The odds of dementia was two-fold higher among those with ACE II genotype, and ranged from 2.18 to 4.35 among those with dementia onset </=70 years, an APOEvarepsilon4 allele, systolic blood pressure <160mmHg, body mass index <25kg/m(2), and in women only, waist circumference </=88cm and hip circumference <101cm. Variations among reports on the relationship between the ACE ID polymorphism and dementia may be due to lack of consideration for Gene-Gene and Gene-phenotype associations. PMID: 18838196 [PubMed - as supplied by publisher] ...

Source: www.ncbi.nlm.nih.gov --- 2 days ago
Related Articles Functional inactivation of NF2/merlin in human mesothelioma. Lung Cancer. 2008 Oct 3; Authors: Thurneysen C, Opitz I, Kurtz S, Weder W, Stahel RA, Felley-Bosco E The tumor suppressor merlin is encoded by the neurofibromatosis type 2 Gene (NF2) which is located on chromosome 22q12 and mutations in this Gene have been found in 40% of mesothelioma. Mutations including deletions and insertions lead to truncated and inactivated merlin. Experimental animal models indicate that disruption of the NF2 signalling pathway, together with a deficiency in ink4a, is essential for mesothelioma development. Our hypothesis was that in human mesothelioma without detectable NF2 mutations, regulators of NF2/merlin activity such as CPI-17 would be altered. CPI-17 is an oncogene inhibiting the NF2/merlin phosphatase which is necessary to maintain NF2/merlin activity. Samples obtained from 44 mesothelioma, 3 asbestosis patients and 6 normal pleura from non-asbestos related disease patients were analyzed. Truncated NF2 transcripts or presence of isoform II only were observed in 11 mesothelioma samples. In all other mesothelioma samples only NF2 isoform I or isoforms I and II were detected. 18 mesothelioma and 1 normal pleura samples also expressed splicing Variant delE2/3. Unexpected variants in addition to wild-type were identified in 24 mesothelioma samples. NF2 protein was either truncated or phosphorylated on Ser 518 in primary cultures de ...

Source: www.ncbi.nlm.nih.gov --- 2 hours ago
Related Articles Association between the SERPING1 Gene and age-related macular degeneration: a two-stage case-control study. Lancet. 2008 Oct 6; Authors: Ennis S, Jomary C, Mullins R, Cree A, Chen X, Macleod A, Jones S, Collins A, Stone E, Lotery A BACKGROUND: Age-related macular degeneration is the most prevalent form of visual impairment and blindness in developed countries. Genetic studies have made advancements in establishing the molecular cause of this disease, identifying mutations in the complement factor H (CFH) Gene and a locus on chromosome 10 encompassing the HTRA1/LOC387715/ARMS2 genes. Variants in complement 3 (C3) and an HLA locus containing both factor B and C2 genes have also been implicated. We aimed to identify further genetic risk factors for this disease. METHODS: We used a case-control study design in a UK sample of patients with age-related macular degeneration (n=479) and controls (n=479) and undertook a low-density screen of 32 genes using 93 single nucleotide polymorphisms (SNPs). Genes were selected as candidates on the basis of potential functional relevance to age-related macular degeneration. Significant initial findings were confirmed by replication in an independent US cohort of 248 unrelated patients with disease and 252 controls, and by high-density genotyping around association signals. FINDINGS: The SNP Variant rs2511989, located within intron six of the SERPING1 Gene, showed highly significant gen ...

Source: www.ncbi.nlm.nih.gov --- 1 day ago
Related Articles Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. Hum Mutat. 2008 Oct 3; Authors: Tan YC, Blumenfeld JD, Anghel R, Donahue S, Belenkaya R, Balina M, Parker T, Levine D, Leonard DG, Rennert H Genetic testing of PKD1 and PKD2 is useful for diagnosis and prognosis of autosomal dominant polycystic kidney disease (ADPKD), particularly in asymptomatic individuals or those without a family history. PKD1 testing is complicated by the large transcript size, complexity of the Gene region, and the extent of Gene variations. A molecular assay was developed using Transgenomic's SURVEYOR Nuclease and WAVE Nucleic Acid High Sensitivity Fragment Analysis System to screen for PKD1 and PKD2 variants, followed by sequencing of Variant Gene segments, thereby reducing the sequencing reactions by 80%. This method was compared to complete DNA sequencing performed by a reference laboratory for 25 ADPKD patients from 22 families. The pathogenic potential of Gene variations of unknown significance was examined by evolutionary comparison, effects of amino acid substitutions on protein structure, and effects of splice-site alterations. A total of 90 variations were identified, including all 82 reported by the reference laboratory (100% sensitivity). A total of 76 variations (84.4%) were in PKD1 and 14 (15.6%) in PKD2. Definite pathogenic mutations (seven nonsense, four truncation, and th ...

Source: www.iol.co.za --- 11 days ago
Scientists in Japan have identified a Gene Variant that may be linked to narcolepsy - a condition marked by excessive daytime sleepiness, impaired vision and muscle weakness. ...

Source: tvnz.co.nz --- 11 days ago
Scientists in Japan have identified a Gene Variant that may be linked to narcolepsy, a condition marked by excessive daytime sleepiness, impaired vision and muscle weakness ...

Source: www.nhs.uk --- 4 days ago
Researchers have found an association between the inflammatory bowel condition ulcerative colitis and the “Gene that encodes for interleukin 10 (IL10) – a compound which regulates inflammation”, BBC News website reports. Ulcerative colitis affects around 100,000 people in the UK, and symptoms include bloody diarrhoea, abdominal pain, losing weight and needing to go to the toilet frequently. The website reports that “the administration of interleukin 10 to individuals with colitis has been reported to have a positive effect in initial studies, although this potential therapy has not been assessed more thoroughly”. This study points researchers towards areas of the genome that warrant further study in people with ulcerative colitis, although the Variant(s) that actually causes this increase has not yet been identified. However, further studies will be needed to investigate whether IL10 treatment would be helpful for people with ulcerative colitis. Where did the story come from? Dr Andre Franke from Christian–Albrechts University in Germany, and colleagues from other universities in Europe, carried out this research. The study was funded by the German Ministry of Education and Research (BMBF). It was an advance online publication in the peer-reviewed scientific journal, Nature Genetics . What kind of scientific study was this? This was a genetic case-control study called a genome-wide analysis . The researchers were looking for parti ...

Source: www.healthcentral.com --- 1 day ago
A mutation, or "Variant," of a key immune system Gene appears to increase the risk of liver transplant rejection by children who carry the Variant, Pennsylvania-based researchers report in the journal Gastroenterology. ...