Purpose: To investigate the association of single-nucleotide polymorphisms (SNPs) in the manganese superoxide dismutase (MnSOD) and two chemokine genes (CCL2 and CCL5) in patients with anterior uveitis (AU).
Methods: Seventy-nine Chinese patients with acute AU were recruited, and genotyping of four SNPs including MnSOD 47, CCL2 -2518, CCL2 -2076, and CCL5 -403 alleles was performed with SNP genotyping assays. The genotype and allele frequencies were compared between patients with AU and 206 healthy control subjects. Analyses were also stratified according to the HLA-B27 status of the patients.
Results: There were significant increases in the frequency of the AA homozygosity in the MnSOD 47 SNP (P = 0.049) and in the CCL2 -2518G allele frequency and GG homozygosity in patients with AU compared with control subjects (P = 0.017 and P = 0.024, respectively). No significant association was found between AU with the CCL2 -2076 and CCL5 -403 SNPs. Subgroup analyses showed that the MnSOD 47A polymorphism was significantly associated with AU in HLA-B27-positive patients, but not in HLA-B27-negative patients, whereas the CCL2 -2518G polymorphism was significantly associated with AU in HLA-B27-negative patients, but not in HLA-B27-positive patients.
Conclusions: The 47A polymorphism in the MnSOD gene and the -2518G polymorphism in the CCL2 gene are associated with the development of AU in HLA-B27-positive and -negative Chinese patients, respectively. Further studies to evaluate the interactions of the HLA-B27 status and these SNPs are warranted.
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http://dx.doi.org/10.1167/iovs.09-3661 | DOI Listing |
Hereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFJ Orthop Surg Res
January 2025
Linyi People's Hospital postgraduate training base of Guangzhou University of Traditional Chinese Medicine, Linyi, Shandong, 276000, China.
Background: The endoplasmic reticulum stress (ER stress) has been involved in various musculoskeletal disorders including non-traumatic osteonecrosis of femoral head (NT-ONFH).
Objective: The current study aimed to investigate the association of glucose-regulated protein 78 (GRP78) as well as CCAAT/enhancer-binding protein homologous protein (CHOP) expressions in serum and femoral head (FH) tissues with NT-ONFH's severity.
Methods: We enrolled NT-ONFH patients (n = 150) alongside healthy controls (HCs, n = 150).
Diabetol Metab Syndr
January 2025
The Centre for Cleft Lip and Palate Treatment, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 33 Badachu Road, Shijingshan District, Beijing, 100144, People's Republic of China.
Background: Adipose tissue plays a critical role in the development of metabolically unhealthy obesity (MUO), with distinct adipose depots demonstrating functional differences. This study aimed to investigate the unique characteristics of subcutaneous (SA) and visceral adipose tissue (VA) in MUO.
Methods: Paired omental VA and abdominal SA samples were obtained from four male patients with MUO and subjected to Four-Dimensional Data Independent Acquisition (4D-DIA) proteomic and lysine acetylation (Kac) analyses.
J Nanobiotechnology
January 2025
Nurturing Center of Jiangsu Province for State Laboratory of AI Imaging & Interventional Radiology; Basic Medicine Research and Innovation Center of Ministry of Education, Medical School of Southeast University, 87 Dingjiaqiao, Nanjing, 210009, China.
Early diagnosis is critical for providing a timely window for effective therapy in pulmonary fibrosis (PF); however, achieving this remains a significant challenge. The distinct honeycombing patterns observed in computed tomography (CT) for the primary diagnosis of PF are typically only visible in patients with moderate to severe disease, often leading to missed opportunities for early intervention. In this study, we developed a nanoprobe designed to accumulate at fibroblastic foci and loaded with the CT sensitizer iodide to enable effective early diagnosis of PF.
View Article and Find Full Text PDFBMC Surg
January 2025
Department of Obstetrics and Gynecology, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine,Chinese Academy of Medical Sciences, Beijing, P.R. China.
Background: vNOTES has been documented as a viable approach for conducting benign gynecologic surgery; however, its application in ectopic pregnancy cases remains relatively scarce. The principal objective of this investigation was to assess the practicability, effectiveness, and safety of vNOTES in surgical procedures related to ectopic pregnancy.
Methods: Clinical data pertaining to patients diagnosed with ectopic pregnancy at Beijing Hospital between January 2018 and August 2023 were retrospectively collected (This study retrospectively registered with the China Clinical Trial Registry with the registration number ChiCTR2100052223 in September 22, 2021.
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