Ask about this productRelated genes to: HSD17B14 antibody
- Gene:
- HSD17B14 NIH gene
- Name:
- hydroxysteroid 17-beta dehydrogenase 14
- Previous symbol:
- DHRS10
- Synonyms:
- retSDR3, SDR47C1
- Chromosome:
- 19q13.33
- Locus Type:
- gene with protein product
- Date approved:
- 2003-12-02
- Date modifiied:
- 2016-06-03
Related products to: HSD17B14 antibody
Related articles to: HSD17B14 antibody
- Oral cancer (OC) remains a therapeutic challenge due to limited validated targets. Cis-pQTLs from the deCODE cohort (n = 35,559) were harmonized with OC-GWAS (3547 cases and 691,466 controls) meta-data through a two-sample Mendelian randomization (MR) framework. Robust Validation included replication in the UKB-PPP dataset, colocalization analysis, SMR (Summary-based MR), HEIDI (Heterogeneity in Dependent Instruments) tests, and eQTL evidence. Additional analyses encompassed protein-protein interaction (PPI) networks, Kyoto Encyclopedia of Genes and Genomes annotation (KEGG)/Gene Ontology (GO) pathway enrichment, mediation, Druggability and side effects analysis. Oral cancer (OC) remains a therapeutic challenge due to limited validated targets. Cis-pQTLs from the deCODE cohort (n = 35,559) were harmonized with OC-GWAS (3547 cases and 691,466 controls) meta-data through a two-sample Mendelian randomization (MR) framework. Robust Validation included replication in the UKB-PPP dataset, colocalization analysis, SMR (Summary-based MR), HEIDI (Heterogeneity in Dependent Instruments) tests, and eQTL evidence. Additional analyses encompassed protein-protein interaction (PPI) networks, Kyoto Encyclopedia of Genes and Genomes annotation (KEGG)/Gene Ontology (GO) pathway enrichment, mediation, Druggability and side effects analysis. To experimentally corroborate the MR findings, the quantitative real-time PCR (qRT-PCR) was performed to examine the mRNA expression levels of selected genes in oral squamous cell carcinoma (OSCC) cell lines (SCC-9 and SCC-25) and normal human oral epithelial cells (HOEC). Multi-omics MR identified TNFSF8 (p = 2.49 × 10, OR = 1.24) as a Tier 1 target. XXYLT1 (p = 1.41 × 10, OR = 1.34) and HSD17B14 (p = 0.04, OR = 2.00) achieved Tier 2. eQTLs-pQTLs Relationship revealed XXYLT1 expression explained 24.65% of risk through elevated plasma protein levels, TNFSF8 eQTLs mediated 72.80% via protein upregulation. Mediation analyses on CD4 on HLA DR+ CD4+ T cells (7.18%) contributed to the risk of OC by upregulating plasma HSD17B14, while daily cigarette consumption (20.63%) and CD8+ T cell percentage leukocytes (12.06%) contributed to the risk of OC by upregulating plasma TNFSF8. Drug safety assessments highlighted systemic TNFSF8 inhibition may elevate skin cancer risk. Multi-omics MR prioritizes TNFSF8 as a therapeutic target for oral cancer. Multi-omics MR identified TNFSF8 (p = 2.49 × 10, OR = 1.24) as a Tier 1 target. XXYLT1 (p = 1.41 × 10, OR = 1.34) and HSD17B14 (p = 0.04, OR = 2.00) achieved Tier 2. eQTLs-pQTLs Relationship revealed XXYLT1 expression explained 24.65% of risk through elevated plasma protein levels, TNFSF8 eQTLs mediated 72.80% via protein upregulation. Mediation analyses on CD4 on HLA DR+ CD4+ T cells (7.18%) contributed to the risk of OC by upregulating plasma HSD17B14, while daily cigarette consumption (20.63%) and CD8+ T cell percentage leukocytes (12.06%) contributed to the risk of OC by upregulating plasma TNFSF8. Drug safety assessments highlighted systemic TNFSF8 inhibition may elevate skin cancer risk. qRT-PCR confirmed significant upregulation of XXYLT1 and HSD17B14 in both SCC-9 and SCC-25 cell lines (p < 0.001), which is consistent with MR predictions. TNFSF8 was not reliably detected in these cancer cells, aligning with its proposed immune-mediated mechanism. Multi-omics MR prioritizes TNFSF8 as a therapeutic target for oral cancer. qPCR validation confirms the dysregulation of XXYLT1 and HSD17B14, while findings regarding TNFSF8 underscore its immune origin. These findings warrant further functional studies. - Source: PubMed
Huang MeishanWang HongweiMo XiaoqiangHuang XiongLiang TaoMo XiuwenLi MinsiFu RongLong XidaiHuang Xuanping - Niemann-Pick disease, type C1 (NPC1), is a rare, fatal, neurodegenerative lysosomal disorder caused by pathological variants in NPC1. Defects in lysosomal cholesterol transport result in the accumulation of unesterified cholesterol within the endo-lysosomal compartments. Delayed diagnosis, limited treatment options, and phenotypic heterogeneity characterized by a broad range of signs/symptoms underscore the urgent need for effective biomarkers to facilitate diagnosis, monitor disease progression and assess therapeutic response. The goal of this study was to identify serum protein biomarkers for NPC1. - Source: PubMed
Publication date: 2026/05/09
Singhal KhushbooMenold Matthew TCawley Niamh XCampbell KierstenFarhat Nicole YAlexander DerekDale Ryan KPorter Forbes D - Niemann-Pick disease, type C1 (NPC1), is a rare, fatal, neurodegenerative lysosomal disorder caused by pathological variants in . Defects in lysosomal cholesterol transport result in the accumulation of unesterified cholesterol within the endo-lysosomal compartments. Delayed diagnosis, limited treatment options, and phenotypic heterogeneity characterized by a broad range of signs/symptoms underscore the urgent need for effective biomarkers to facilitate diagnosis, monitor disease progression and assess therapeutic response. The goal of this study was to identify serum protein biomarkers for NPC1. - Source: PubMed
Publication date: 2026/02/23
Singhal KhushbooMenold Matthew TCawley Niamh XCampbell KierstenFarhat Nicole YAlexander DerekDale Ryan KPorter Forbes D - Niemann-Pick disease, type C1 (NPC1), is a rare, fatal, neurodegenerative lysosomal disorder caused by pathological variants in . Defects in lysosomal cholesterol transport result in the accumulation of unesterified cholesterol within the endo-lysosomal compartments. Delayed diagnosis, limited treatment options, and phenotypic heterogeneity characterized by a broad range of signs/symptoms underscore the urgent need for effective biomarkers to facilitate diagnosis, monitor disease progression and assess therapeutic response. The goal of this study was to identify serum protein biomarkers for NPC1. - Source: PubMed
Publication date: 2026/01/18
Singhal KhushbooMenold Matthew TCawley Niamh XCampbell KierstenFarhat Nicole YAlexander DerekDale Ryan KPorter Forbes D - Steatotic liver disease (SLD) encompasses a group of disorders characterized by the excessive accumulation of fat in the liver. It is classified into four categories based on clinical manifestations: Metabolic dysfunction-associated SLD (MASLD), metabolic-alcohol-associated liver disease (ALD), ALD, and cryptogenic SLD. In the United States, its prevalence stands at 34.2%, making it the most common cause of cirrhosis and hepatocellular carcinoma (HCC). In addition to factors related to endocrine, nutrition, and medications, several genetic markers have been implicated in the disease's pathogenesis. Notable genes include , , , and . These genetic polymorphisms can significantly impact prognosis and disease outcomes. For example, is the most frequently associated gene with MASLD, increasing the risk of HCC by 12-fold and liver-related mortality by 18-fold. Furthermore, certain genetic markers are more prevalent in specific ethnic groups; for instance, is common among Hispanics, while is linked to higher fat content in African Americans. With a better understanding of the genetic factors involved in the pathogenesis of SLD, significant advancements have been made in diagnostics and therapeutics. This review explores the role of genetic factors in the disease's development, discusses current advancements in non-invasive diagnostic modalities, and examines therapeutic improvements based on these genetic insights to achieve better outcomes. - Source: PubMed
Kumar GaneshShah Yash RShahzad AbeerJameel KhadijaGuevara-Lazo DavidKhan Najia AliDahiya Dushyant SinghGangwani Manesh KumarRavichandran RakshanaPatel RaviHayat UmarThandassery Ragesh B