Obesity is a major health problem, and many family-based studies have suggested that it has a strong genetic basis. We performed a genome-wide quantitative trait linkage scan for loci influencing BMI in 573 pedigrees from the U.K. We identified genome-wide significant linkage (logarithm of odds = 3.74, between D10S208 and D10S196, genome-wide P=0.0186) on chromosome 10p. The size of our study population and the statistical significance of our findings provide substantial contributions to the body of evidence for a locus on chromosome 10p. We examined eight single nucleotide polymorphisms (SNPs) in GAD2, which maps to this linkage region, tagging the majority of variation in the gene, and observed marginally significant (0.01
Download full-text PDF
Source
http://dx.doi.org/10.2337/db05-1674 DOI Listing Publication Analysis
Top Keywords
Similar Publications
Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp.
Endocrinol Diabetes Metab Case Rep
October 2024
Summary: HDR is a rare autosomal dominant genetic disorder characterized by the triad of hypoparathyroidism, sensorineural deafness and renal anomalies caused by haploinsufficiency loss of function of the GATA-binding protein 3 (GATA3) gene. We present a case of a 56-year-old male diagnosed with hypoparathyroidism, sensorineural deafness, renal hypoplasia and epilepsy. Genetic testing revealed a novel GATA3 heterozygous mutation c.
View Article and Find Full Text PDFComprehensive mutational profiling identifies new driver events in cutaneous leiomyosarcoma.
Br J Dermatol
October 2024
Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Article Synopsis
- Cutaneous leiomyosarcoma (cLMS) is a rare skin tumor with smooth muscle differentiation, showing key genetic mutations in TP53 and RB1, along with copy number changes in other genes like MYCOD and IGF1R.
- This study aimed to thoroughly investigate the genetics of cLMS by analyzing a larger sample size (38 cases) using whole-exome and RNA sequencing, revealing significant recurrent mutations and potential environmental factors like UV exposure.
- Findings indicated critical genetic alterations, including various deletions and amplifications, highlighting the complexity of cLMS and emphasizing the need for extensive genetic analysis in rare tumors for better understanding and potential treatment options.
A Novel Mutation in Gene in a Case of Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome.
Indian J Nephrol
February 2023
Department of Medical Genetics, Manipal Hospitals, Bengaluru, Karnataka, India.
A 39-year-old male was incidentally detected to have hypertension and chronic kidney disease (CKD) with left solitary functioning kidney in 2017. He has bilateral sensorineural hearing loss since adolescence. He was initially suspected to have adynamic bone disease in view of low parathyroid hormone levels and was started on teriparatide injections and calcium supplements.
View Article and Find Full Text PDFWhole-exome sequencing reveals mutational profiles of anorectal and gynecological melanoma.
Med Oncol
October 2023
Department of Musculoskeletal Oncology, Fudan University Shanghai Cancer Center, Shanghai, 200032, People's Republic of China.
Mucosal melanoma is a rare and highly malignant type of melanoma. Among the sites that mucosal melanoma arises, anorectal and gynecological melanoma has more aggressive behavior and worse prognosis. There was no effective therapy for mucosal melanoma at present.
View Article and Find Full Text PDFGenomic analysis of spinal meningiomas: correlation with histopathological grade.
J Neurosurg Spine
December 2023
Departments of1Neurosurgery and.
Objective: Spinal meningiomas are one of the most common primary intradural tumors of the adult spine. Spinal meningiomas typically have a benign course with low rates of recurrence. Recent advances in genomic profiling have provided valuable information on meningioma biology and natural history, but these studies have focused primarily on cranial meningiomas.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!