ADAMTSL1
- Known as:
- ADAMTSL1
- Catalog number:
- 001173A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ADAMTSL1
Related genes to: ADAMTSL1
- Gene:
- ADAMTSL1 NIH gene
- Name:
- ADAMTS like 1
- Previous symbol:
- C9orf94
- Synonyms:
- ADAMTSR1, FLJ35283
- Chromosome:
- 9p22.2-p22.1
- Locus Type:
- gene with protein product
- Date approved:
- 2002-01-11
- Date modifiied:
- 2018-02-13
Related products to: ADAMTSL1
Related articles to: ADAMTSL1
- Genetic variants affect baseline health and biomarker values, which in turn may impact both the therapy selected for an individual and the magnitude of change induced by the medication. Here, we propose an approach for complex longitudinal repeated measures biobank data, which separates genetic effects for disease from the genetic effects for medication usage and those for treatment response. For 211,845 individuals, we construct a pre-post study design from 1,420,443 repeated blood pressure (BP) measurements and 1,117,900 prescription records for common BP influencing drugs, using electronic health records. We model these jointly alongside 8,430,446 imputed single nucleotide polymorphism (SNP) markers and 17,852 whole-exome sequence loss-of-function (LoF) variants, all within a single novel graphical modeling framework. We identify pharmacogenetic candidate SNPs and LoF variants in genes , and , which are associated with angiotensin receptor blocker therapy and response after controlling for hypertensive disease status across multiple worldwide biobanks. We additionally detect and replicate established clinically relevant variants for statin treatment across multiple biobanks. We find that genetic variation for BP is predominantly shaped prior to the age of 50, but we identify 127 independent loci associated with age-specific BP changes later in life. Finally, once post-treatment measures are conditioned on pre-treatment measures and therapy, we find evidence for four independent loci influencing BP treatment response, including a variant in which has previously been associated with diuretic and beta-blocker response. Our graphical modeling and pre-post study design provides a robust way of detecting time-, treatment- and treatment response-specific genetic associations within large-scale biobank studies. - Source: PubMed
Publication date: 2026/03/20
Borczyk MalgorzataMachnik NickHajto JacekKrätschmer IlseKonowalska PaulaBaszkiewicz BartoszKorostynski MichalRobinson Matthew R - We conducted a Phenome-Wide Association Study (PheWAS) to investigate whether alleles previously shown to be associated with problem behaviors in Labrador Retrievers from the U.S. Transportation Security Administration’s (TSA) odor detection program also show behavioral associations in other populations. The original TSA cohort (2002–2013) consisted of dogs from a former breeding program that drew from U.S. commercial sources and the Australian Customs Service. While those data included TSA testing results from the foster period, detailed behavior profiles and reasons for elimination from the program were not recorded. To extend and validate these genetic associations in populations with richer behavioral data, we analyzed three additional Labrador Retriever cohorts with both genotype and C-BARQ behavioral questionnaire data: (1) Australian pet dogs, (2) UK dogs from a mixed pet and working background (primarily gamebird retrieving), and (3) U.S. working guide dogs. This analysis identified a total of 15 associations between 12 behavioral traits and 8 markers at 6 genome loci. Notably, we found four types of aggression and one type of fear that are directed at familiar humans or dogs, but none directed at unfamiliar ones. Other problem traits identified include separation-related behaviors, excitability, and chasing small animals. Furthermore, we utilized whole genome sequencing to identify a functional candidate associated with “aggression when approached by a household dog at a favorite resting place”. We propose this variant in an intron results in the loss of TCF7L1 protein binding, and we highlight the evolutionary history of that conserved element, including the fixation of two mutations in the human lineage. Our PheWAS findings suggest relevance to working dog selection, breeding, and training, presenting opportunities to reduce costs while improving performance and resilience. - Source: PubMed
Publication date: 2026/03/11
Eyre Alexander WZapata IsainFraire JasminCoty Kevin DHuson Heather JEvans Katy MOtto Cynthia MSerpell James Avan Rooy DianeWade Claire MBlott Sarah CWiener PamelaHaskell Marie JAlvarez Carlos E - Fatty acids are important as structural components, energy sources, and signaling mediators. While studies have extensively explored genetic regulation of fatty acids in serum and other bodily fluids, their regulation within adipose tissue, a crucial regulator of cardiovascular and metabolic health, remains unclear. Here, we investigated the genetic regulation of 18 fatty acids in subcutaneous adipose tissue from 569 female twins from TwinsUK. Using twin models, the heritability of fatty acids ranged from 5% to 59%, indicating a substantial genetic regulation of fatty acid levels within adipose tissue, which was also tissue specific in many cases. Genome-wide association studies identified 10 significant loci, in SCD, ADAMTSL1, ZBTB41, SNTB1, EXOC6B, ACSL3, LINC02055, MKRN2/TSEN2, FADS1, and HAPLN across 13 fatty acids or fatty acid product-to-precursor ratios. Using adipose gene expression and methylation, which were concurrently measured in these samples, we detected five fatty acid-associated signals that colocalized with expression quantitative trait locus (eQTL) and methylation quantitative trait locus (meQTL) signals, highlighting fatty acids that are regulated by molecular processes within adipose tissue. We explored links between polygenic scores of common metabolic traits and adipose fatty acid levels and identified associations between polygenic scores of BMI, body-fat distribution, and triglycerides and several fatty acids, indicating these risk scores impact local adipose tissue content. Overall, our results identified local genetic regulation of fatty acids within adipose tissue and highlighted their links with renal and cardio-metabolic health. - Source: PubMed
Publication date: 2026/01/14
Yan XinyuRoberts Amy LEl-Sayed Moustafa Julia SVillicaña SergioAl-Hilal MaryamTomlinson MaxMenni CristinaSanders Thomas A BFreidin Maxim BBell Jordana TSmall Kerrin S - Families studies conducted in different ethnic populations worldwide have helped elucidate the molecular and genetic factors involved in the development of skeletal class III malocclusion. Therefore, the aim of this study is to provide an updated summary. The study followed the JBI Manual for Evidence Synthesis and PRISMA-scR guidelines. PubMed, Scopus, WOS, Google Scholar and DANS databases were explored using specific strategies. Eligible studies included linkage and genome-wide analyses, while association studies, case reports and in vivo/in vitro research were excluded. The included studies must have involved at least one family with one or more members exhibiting the skeletal malocclusion phenotypes. An autosomal dominant inheritance pattern with variable penetrance for skeletal class III malocclusions across East Asian, Southeast Asian, Middle Eastern, European and South American populations was identified. In contrast, skeletal class II malocclusions exhibited autosomal dominant and X-linked inheritance patterns, with a higher prevalence in Eastern Mediterranean and South American populations. Key molecular findings include missense mutations in DUSP6 (c.545C>T and c.1094C>T), which affect mandibular prognathism and maxillary deficiency via the FGF/FGFR and MAPK/ERK pathways. Additionally, mutations in ADAMTS1 (c.742I>T), ADAMTS2 (c.3506G>T) and ADAMTSL1 (c.176G>A) impact mandibular growth through aggrecan metabolism and osteogenesis, disrupting bone remodelling via the EGFR/ErbB signalling pathway. This comprehensive review highlights the complex genetic basis of skeletal malocclusions, provides insights into the underlying molecular mechanisms, suggests potential targets for therapeutic intervention, and contributes to our understanding of the genetic architecture of these conditions. - Source: PubMed
Publication date: 2025/11/20
Dehesa-Santos AlexandraCarreño-Gomez LuciaYañez-Vico RosaIglesias-Linares Alejandro - As the laying cycle is prolonged, the egg albumen quality exhibits a declining trend. A Haugh unit (HU) is a standard measure of the albumen quality, which reflects viscosity and freshness. During the late laying period, the HU not only decreased significantly, but also exhibited greater variability among individuals. The magnum, as the primary site of albumen synthesis, plays a central role in this process; however, the mechanisms by which it regulates the albumen quality remain unclear. To address this, we obtained genomic and transcriptomic data from 254 individuals, along with single-cell RNA sequencing (scRNA-seq) data of the magnum tissue. Genome-wide association studies (GWAS) across five laying stages (66, 72, 80, 90, and 100 weeks of age) identified 77 HU-associated single-nucleotide polymorphisms (SNPs). Expression quantitative trait locus (eQTL) mapping linked these variants to the expression of 12 genes in magnum tissue. In addition, transcriptomic analysis using linear regression and random forest models identified 259 genes that significantly correlated with the HU. Single-cell RNA sequencing further revealed two key cell types, plasma cells and a subset of epithelial cells, marked by and , which are functionally relevant to the HU. Through integrated Transcriptome-Wide Association Study (TWAS) and Summary-data-based Mendelian Randomization (SMR) analyses, we identified four robust regulators of the albumen quality: , , , and . These genes are functionally involved in mitochondrial function, antioxidant defense, and membrane transport. Overall, our findings uncovered the genetic and cellular mechanisms underlying age-related decline in the albumen quality and identified potential targets for improving the egg quality in aging flocks. - Source: PubMed
Publication date: 2025/08/15
Gao MingyueZhang JunnanYang NingSun Congjiao