Background/objectives: To identify copy number variants (CNVs) which are associated with body mass index (BMI).
Subjects/methods: CNVs were identified using array comparative genomic hybridization (aCGH) on members of pedigrees ascertained through severely obese (BMI ≥ 35 kg/m(2)) sib pairs (86 pedigrees) and thin (BMI ≤ 23 kg/m(2)) probands (3 pedigrees). Association was inferred through pleiotropy of BMI with CNV log2 intensity ratio.
Results: A 77-kilobase CNV on chromosome 20q13.3, confirmed by real-time qPCR, exhibited deletions in the obese subjects and duplications in the thin subjects (P = 2.2 × 10(-6)). Further support for the presence of a deletion derived from inference by likelihood analysis of null alleles for SNPs residing in the region.
Conclusions: One or more of 7 genes residing in a chromosome 20q13.3 CNV region appears to influence BMI. The strongest candidate is ARFRP1, which affects glucose metabolism in mice.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736014 | PMC |
| http://dx.doi.org/10.1155/2015/623431 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
GWAS analysis revealed genomic loci and candidate genes associated with the 100-seed weight in high-latitude-adapted soybean germplasm.
Theor Appl Genet
January 2025
Research Center for Life Sciences Computing, Zhejiang Lab, Hangzhou, 310012, China.
In the present study, we identified 22 significant SNPs, eight stable QTLs and 17 potential candidate genes associated with 100-seed weight in soybean. Soybean is an economically important crop that is rich in seed oil and protein. The 100-seed weight (HSW) is a crucial yield contributing trait.
View Article and Find Full Text PDFIdentification of significant SNPs for yield-related salt tolerant traits in rice through genome-wide association analysis.
Cell Mol Biol (Noisy-le-grand)
January 2025
Dept. of Genetics and Plant Breeding, Bangabandhu Sheikh Mujibur Rahman Agricultural University, Gazipur 1706, Bangladesh.
Rice salt tolerance is highly anticipated to meet global demand in response to decreasing farmland and soil salinization. Therefore, dissecting the genetic loci controlling salt tolerance in rice for improving productivity is of utmost importance. Here, we evaluated six salt-tolerance-related traits of a biparental mapping population comprising 280 F2 rice individuals (Oryza sativa L.
View Article and Find Full Text PDFMir-483-5p-mediated activating of IGF2/H19 enhancer up-regulates IGF2/H19 expression via chromatin loops to promote the malignant progression of hepatocellular carcinoma.
Mol Cancer
January 2025
Department of Gastroenterology, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong, 510630, P. R. China.
Article Synopsis
- The study focuses on the role of miR-483-5p in regulating the overexpression of IGF2 and H19, which are linked to hepatocellular carcinoma (HCC).
- miR-483-5p enhances IGF2 and H19 expression by binding to their enhancer, activating transcription, and promoting new interactions between the enhancer and gene promoters through chromatin loops.
- The research highlights that MED1 is crucial in this process, influencing both chromatin structure and the aggressive behavior of HCC cells, indicating potential targets for therapeutic interventions.
Chromosome-level Genome Assembly of Korean Long-tailed Chicken and Pangenome of 40 Gallus gallus Assemblies.
Sci Data
January 2025
Interdisciplinary Program in Bioinformatics, Seoul National University, Seoul, Republic of Korea.
This study presents the first chromosome-level genome assembly of the Korean long-tailed chicken (KLC), a unique breed of Gallus gallus known as Ginkkoridak. Our assembly achieved a super contig N50 of 5.7 Mbp and a scaffold N50 exceeding 90 Mb, with a genome completeness of 96.
View Article and Find Full Text PDFChromosome-level genome assembly, annotation, and population genomic resource of argali (Ovis ammon).
Sci Data
January 2025
Key Laboratory of Ecological Safety and Sustainable Development in Arid Lands, Xinjiang Institute of Ecology and Geography, Chinese Academy of Sciences, Urumqi, 830011, China.
Argali stands as the largest species among wild sheep in Central and East Asia, with a concerning rate of decline estimated at 30%. The intraspecific taxonomy of argali remains contentious due to limited genomic data and unclear geographic separation. In this study, we constructed a chromosome-level genome assembly and annotation for the Tibetan argali (O.
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!