Ask about this productRelated genes to: EGLN1 antibody
- Gene:
- EGLN1 NIH gene
- Name:
- egl-9 family hypoxia inducible factor 1
- Previous symbol:
- C1orf12
- Synonyms:
- SM-20, PHD2, ZMYND6, HIFPH2
- Chromosome:
- 1q42.2
- Locus Type:
- gene with protein product
- Date approved:
- 2000-06-16
- Date modifiied:
- 2016-10-05
Related products to: EGLN1 antibody
Related articles to: EGLN1 antibody
- Gastric cancer (GC) and breast cancer (BC) are among the most common malignancies worldwide, with significant mortality rates despite advances in diagnosis and treatment. Genetic variants in the hypoxia-inducible factor (HIF) pathway, which plays an important role in tumor microenvironment adaptation, have emerged as potential contributors to cancer susceptibility and prognosis. Our study investigates the role of HIF pathway genetic variants in GC and BC among the Mizo population, an indigenous group living at high altitudes in north-eastern India. In addition, the EGLN1 c.12C > G (rs186996510) "Tibetan allele" was evaluated within this population-specific genetic framework. Whole-exome sequencing data from 74 cancer patients (59 GC, 15 BC) and 27 healthy controls were analyzed. Variants underwent quality filtering, in silico functional annotation, and association analyses including odds ratio (OR) and hazard ratio (HR) estimation. The EGLN1 Tibetan allele was prevalent in 29.62% of healthy Mizo controls and demonstrated a reduced association trend with GC (OR = 0.671) and BC (OR = 0.364). Common variants in CA9 (rs2071676), CDC20B (rs444527) and CDH11 (rs35195) showed associations for both cancers, with CA9 rs2071676 showing an association with poorer survival (HR = 4.097, p = 0.0139). Rare variants such as CA9 (rs77984049) and ABCB1 (rs2032582) also showed high ORs, particularly in GC. Overall, these findings provide exploratory, population-specific insight into HIF pathway genetic variation within a high-altitude indigenous population and contribute to the understanding of population-based cancer associations. Further investigation in larger cohorts with comprehensive clinical modeling and functional validation is warranted. - Source: PubMed
Publication date: 2026/04/24
Krishnasamy VigneshRalte LalengkimiLalhruaizela SamuelRalte Ruby ZothankimiVanlalpeka HarveyLalrinpuia BenjaminKumar Nachimuthu Senthil - Hypoxia-inducible factors (HIFs) play central roles in evoking responses to hypoxia, and their activities are regulated by numerous molecules, including microRNAs. Organisms typically show differing tolerances to oxygen deficiency; the most common method of determining such tolerance involves examining the effects of sublethal hypoxic exposure (SHE) in a decompression chamber, which can lead to pathological changes in the internal organs. The aim of the present study was to investigate the microRNAs and genes regulating cellular responses to hypoxia and inflammation expression levels in the peripheral blood leukocytes of laboratory animals before and 1 month following determination of hypoxia tolerance. - Source: PubMed
Publication date: 2026/04/01
Kirillova MariaDzhalilova DzhuliiaMaiak MargaritaKirillov VladimirTsvetkov IvanFokichev NikolaiMakarova Olga - - Source: PubMed
Zhang Q GFu W JLing CBao W WZhao C ZJin Q C - Copy number variants (CNVs) are large-scale genomic alterations that contribute substantially to genetic diversity and may influence phenotypic variation in livestock. This study investigated the genome-wide CNV landscape of three Vietnamese indigenous chicken breeds. Whole-genome sequencing on the Illumina platform (3-5× coverage) was performed on 24 individuals from Dong Tao (DT), Cay Cum (CC), and Ri (RI) breeds. A total of 1743 CNVs were detected, clustering into 315 copy number variation regions (CNVRs). Most CNVRs were rare, with 31.7% present in only one animal among breeds. Across the genome, 122 unique CNVRs were distributed over 28 chromosomes, predominantly the first five. Losses were the most frequent type (45.9%), followed by gains (39.3%), and mixed events (14.8%). Within these CNVRs, 3633 genes were identified. In DT and RI, CNVR-embedded genes included several candidates, potentially related to adaptability, development, and phenotypic diversification. Notably, DT harbored genes such as , , , (adaptation, stress/immune response) and , , , , , , , and (developmental and skeletal traits), whereas in RI they included genes such as , , , and , which may contribute to muscle, bone, and physiological regulation. Functional enrichment analysis revealed numerous genes and Quantitative Trait Loci (QTLs) associated with metabolic, developmental, and immune-related pathways. This study provides the first comprehensive genome-wide CNV profile of Vietnamese indigenous chickens and offers a valuable genomic resource for investigating the genetic basis of breed-specific and adaptive phenotypes. - Source: PubMed
Publication date: 2026/04/01
Nguyen Thuy Thi-DieuTzvetkova AnaBui Mai Thi-DieuDo Vo-Anh-KhoaDinh Thuy Thi-NgocNguyen Phuong ThanhKuss Andreas WalterPenasa MauroCendron Filippo - This exploratory, hypothesis-generating study aimed to investigate methylation differences in 16 angiogenesis- and fibrosis-related genes across diabetic retinopathy (DR) stages and proliferative diabetic retinopathy (PDR) subtypes (Florid and Gliotic), and to identify potential epigenetic biomarkers for disease progression. - Source: PubMed
Publication date: 2026/03/25
Ren XiaotongCui LijinYao YaoQiu YuzheYu ChenyueGuo Jian