{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T22:41:22Z","timestamp":1785451282257,"version":"3.56.0"},"reference-count":40,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,5,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2024-0408_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>We aimed to characterize genetic alterations in Prader-Willi syndrome (PWS) using whole genome microarrays.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0408_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We performed mRNA expression microarray analysis using RNA isolated from whole blood of 25 PWS patients and 25 age-matched controls. After preprocessing the data to reduce heterogeneity, differentially expressed genes (DEGs) between groups were identified using a linear regression model package. Reactome pathway analysis was performed for upregulated and downregulated genes using EnrichR. Correlations between gene expression levels and clinical factors were estimated using Spearman\u2019s rank correlation coefficient.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0408_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Of 21,488 probes examined in the microarray analysis, 4,156 were detected. Fifty-two genes had different expression levels in children with PWS compared with healthy controls (36 genes upregulated and 16 downregulated). Twelve genes were upregulated and 13 were downregulated in obese PWS patients compared with normal-weight PWS (NW-PWS) patients. The C-type lectin domain family 4 member D (CLEC4D) was upregulated in both PWS (vs. control) and obese-PWS (vs. NW-PWS) patients, and CLEC4D expression was also correlated with body mass index-standard deviation score in PWS patients. Among the genes upregulated in obese PWS vs. NW-PWS, Annexin A3 (ANXA3), potassium inwardly rectifying channel subfamily J member 15 (KCNJ15), and selenium binding protein 1 (SELENBP1) were upregulated in obese-control vs. NW-control. Gene ontology analysis revealed that upregulated DEGs were significantly enriched in biological processes, including pathways involved in myeloid dendritic cell activation associated with CLEC4D.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0408_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This study revealed differences in gene expression between obese and NW-PWS patients. The regulation of macrophage infiltration by CLEC4D suggests a possible mechanism associated with obesity-related complications in PWS.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2024-0408","type":"journal-article","created":{"date-parts":[[2025,3,19]],"date-time":"2025-03-19T09:21:03Z","timestamp":1742376063000},"page":"514-524","source":"Crossref","is-referenced-by-count":4,"title":["Prader-Willi syndrome gene expression profiling of obese and non-obese patients reveals transcriptional changes in CLEC4D and ANXA3"],"prefix":"10.1515","volume":"38","author":[{"given":"Ju Young","family":"Yoon","sequence":"first","affiliation":[{"name":"Department of Pediatrics , 58916 Pusan National University Children\u2019s Hospital, Pusan National University School of Medicine , Yangsan , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Choong Ho","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Seoul National University Children\u2019s Hospital , Seoul , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murim","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences , Seoul National University College of Medicine , Seoul , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jung Min","family":"Ko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Seoul National University Children\u2019s Hospital , Seoul , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young Ah","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Seoul National University Children\u2019s Hospital , Seoul , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kye Shik","family":"Shim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine , Kyung Hee University , Seoul , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , 58916 Pusan National University Children\u2019s Hospital, Pusan National University School of Medicine , Yangsan , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suk Dong","family":"Yoo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , 58916 Pusan National University Children\u2019s Hospital, Pusan National University School of Medicine , Yangsan , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minji","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , 58916 Pusan National University Children\u2019s Hospital, Pusan National University School of Medicine , Yangsan , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yeuni","family":"Yu","sequence":"additional","affiliation":[{"name":"School of Medicine , Biomedical Research Institute, Pusan National University , Yangsan , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joo Young","family":"Lee","sequence":"additional","affiliation":[{"name":"Medical Research Institute, Pusan National University , Pusan , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9796-8266","authenticated-orcid":false,"given":"Yun Hak","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Anatomy, School of Medicine , Pusan National University , Yangsan , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8609-5826","authenticated-orcid":false,"given":"Chong Kun","family":"Cheon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , 58916 Pusan National University Children\u2019s Hospital, Pusan National University School of Medicine , Yangsan , Korea"},{"name":"Medical Research Institute, Pusan National University , Pusan , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2025,3,20]]},"reference":[{"key":"2025082013043661974_j_jpem-2024-0408_ref_001","doi-asserted-by":"crossref","unstructured":"Cassidy, SB, Schwartz, S, Miller, JL, Driscoll, DJ. Prader-Willi syndrome. Genet Med 2012;14:10\u201326. https:\/\/doi.org\/10.1038\/gim.0b013e31822bead0.","DOI":"10.1038\/gim.0b013e31822bead0"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_002","doi-asserted-by":"crossref","unstructured":"Lionti, T, Reid, SM, White, SM, Rowell, MM. A population-based profile of 160 Australians with Prader-Willi syndrome: trends in diagnosis, birth prevalence and birth characteristics. Am J Med Genet A 2015;167:371\u20138. https:\/\/doi.org\/10.1002\/ajmg.a.36845.","DOI":"10.1002\/ajmg.a.36845"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_003","doi-asserted-by":"crossref","unstructured":"Cassidy, SB, Forsythe, M, Heeger, S, Nicholls, RD, Schork, N, Benn, P, et al.. Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. Am J Med Genet A 1997;68:433\u201340. https:\/\/doi.org\/10.1002\/(sici)1096-8628(19970211)68:4<433::aid-ajmg12>3.0.co;2-t.","DOI":"10.1002\/(SICI)1096-8628(19970211)68:4<433::AID-AJMG12>3.3.CO;2-#"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_004","doi-asserted-by":"crossref","unstructured":"Bittel, DC, Kibiryeva, N, Sell, SM, Strong, TV, Butler, MG. Whole genome microarray analysis of gene expression in Prader-Willi syndrome. Am J Med Genet A 2007;143:430\u201342. https:\/\/doi.org\/10.1002\/ajmg.a.31606.","DOI":"10.1002\/ajmg.a.31606"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_005","doi-asserted-by":"crossref","unstructured":"Roof, E, Stone, W, MacLean, W, Feurer, ID, Thompson, T, Butler, MG. Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes. J Intellect Disabil Res 2000;44:25\u201330. https:\/\/doi.org\/10.1046\/j.1365-2788.2000.00250.x.","DOI":"10.1046\/j.1365-2788.2000.00250.x"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_006","doi-asserted-by":"crossref","unstructured":"Bittel, DC, Butler, MG. Prader\u2013Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expet Rev Mol Med 2005;7:1\u201320. https:\/\/doi.org\/10.1017\/s1462399405009531.","DOI":"10.1017\/S1462399405009531"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_007","doi-asserted-by":"crossref","unstructured":"Khan, MJ, Gerasimidis, K, Edwards, CA, Shaikh, MG. Mechanisms of obesity in Prader-Willi syndrome. Pediatr Obes 2018;13:3\u201313. https:\/\/doi.org\/10.1111\/ijpo.12177.","DOI":"10.1111\/ijpo.12177"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_008","doi-asserted-by":"crossref","unstructured":"Kim, JH, Yun, S, Hwang, SS, Shim, JO, Chae, HW, Lee, YJ, et al.. The 2017 Korean National Growth Charts for children and adolescents: development, improvement, and prospects. Korean J Pediatr 2018;61:135\u201349. https:\/\/doi.org\/10.3345\/kjp.2018.61.5.135.","DOI":"10.3345\/kjp.2018.61.5.135"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_009","doi-asserted-by":"crossref","unstructured":"Ritchie, ME, Phipson, B, Wu, D, Hu, Y, Law, CW, Shi, W, et al.. Limma powers differential expression analyses for RNA-sequencing and microarray studies. Nucleic Acids Res 2015;43:47. https:\/\/doi.org\/10.1093\/nar\/gkv007.","DOI":"10.1093\/nar\/gkv007"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_010","doi-asserted-by":"crossref","unstructured":"Fabregat, A, Jupe, S, Matthews, L, Sidiropoulos, K, Gillespie, M, Garapati, P, et al.. The reactome pathway knowledgebase. Nucleic Acids Res 2017;46:649\u201355. https:\/\/doi.org\/10.1093\/nar\/gkx1132.","DOI":"10.1093\/nar\/gkx1132"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_011","doi-asserted-by":"crossref","unstructured":"Chen, EY, Tan, CM, Kou, Y, Duan, Q, Wang, Z, Meirelles, GV, et al.. Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool. BMC Bioinformatics 2013;14:128. https:\/\/doi.org\/10.1186\/1471-2105-14-128.","DOI":"10.1186\/1471-2105-14-128"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_012","doi-asserted-by":"crossref","unstructured":"Supek, F, Bo\u0161njak, M, \u0160kunca, N, \u0160muc, T. REVIGO summarizes and visualizes long lists of gene ontology terms. PLoS One 2011;6:e21800. https:\/\/doi.org\/10.1371\/journal.pone.0021800.","DOI":"10.1371\/journal.pone.0021800"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_013","doi-asserted-by":"crossref","unstructured":"Walley, AJ, Asher, JE, Froguel, P. The genetic contribution to non-syndromic human obesity. Nat Rev Genet 2009;10:431\u201342. https:\/\/doi.org\/10.1038\/nrg2594.","DOI":"10.1038\/nrg2594"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_014","doi-asserted-by":"crossref","unstructured":"Friedel, S, Horro, FF, Wermter, AK, Geller, F, Dempfle, A, Reichwald, K, et al.. Mutation screen of the brain derived neurotrophic factor gene (BDNF): identification of several genetic variants and association studies in patients with obesity, eating disorders, and attention-deficit\/hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet 2005;132B:96\u20139. https:\/\/doi.org\/10.1002\/ajmg.b.30090.","DOI":"10.1002\/ajmg.b.30090"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_015","doi-asserted-by":"crossref","unstructured":"Krude, H, Biebermann, H, Luck, W, Horn, R, Brabant, G, Gr\u00fcters, A. Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. Nat Genet 1998;19:155\u20137. https:\/\/doi.org\/10.1038\/509.","DOI":"10.1038\/509"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_016","doi-asserted-by":"crossref","unstructured":"Holder, JLJr, Butte, NF, Zinn, AR. Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. Hum Mol Genet 2000;9:101\u20138. https:\/\/doi.org\/10.1093\/hmg\/9.1.101.","DOI":"10.1093\/hmg\/9.1.101"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_017","doi-asserted-by":"crossref","unstructured":"Cox, AJ, Zhang, P, Evans, TJ, Scott, RJ, Cripps, AW, West, NP. Gene expression profiles in whole blood and associations with metabolic dysregulation in obesity. Obes Res Clin Pract 2018;12:204\u201313. https:\/\/doi.org\/10.1016\/j.orcp.2017.07.001.","DOI":"10.1016\/j.orcp.2017.07.001"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_018","doi-asserted-by":"crossref","unstructured":"Brown, GD. Sensing necrosis with Mincle. 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Eur J Immunol 2016;46:381\u20139. https:\/\/doi.org\/10.1002\/eji.201545858.","DOI":"10.1002\/eji.201545858"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_021","doi-asserted-by":"crossref","unstructured":"Tanaka, M, Ikeda, K, Suganami, T, Komiya, C, Ochi, K, Shirakawa, I, et al.. Macrophage-inducible C-type lectin underlies obesity-induced adipose tissue fibrosis. Nat Commun 2014;5:4982. https:\/\/doi.org\/10.1038\/ncomms5982.","DOI":"10.1038\/ncomms5982"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_022","doi-asserted-by":"crossref","unstructured":"Fujimoto, S, Goda, T, Mochizuki, K. In vivo evidence of enhanced di-methylation of histone H3 K4 on upregulated genes in adipose tissue of diabetic db\/db mice. Biochem Biophys Res Commun 2011;404:223\u20137. https:\/\/doi.org\/10.1016\/j.bbrc.2010.11.097.","DOI":"10.1016\/j.bbrc.2010.11.097"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_023","doi-asserted-by":"crossref","unstructured":"Yip, L, Fuhlbrigge, R, Alkhataybeh, R, Fathman, CG. Gene expression analysis of the pre-diabetic pancreas to identify pathogenic mechanisms and biomarkers of type 1 diabetes. Front Endocrinol (Lausanne) 2020;11:609271. https:\/\/doi.org\/10.3389\/fendo.2020.609271.","DOI":"10.3389\/fendo.2020.609271"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_024","doi-asserted-by":"crossref","unstructured":"Wilson, GJ, Marakalala, MJ, Hoving, JC, van Laarhoven, A, Drummond, RA, Kerscher, B, et al.. The C-type lectin receptor CLECSF8\/CLEC4D is a key component of anti-mycobacterial immunity. Cell Host Microbe 2015;17:252\u20139. https:\/\/doi.org\/10.1016\/j.chom.2015.01.004.","DOI":"10.1016\/j.chom.2015.01.004"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_025","doi-asserted-by":"crossref","unstructured":"Moss, SE, Morgan, RO. The annexins. Genome Biol 2004;5:219. https:\/\/doi.org\/10.1186\/gb-2004-5-4-219.","DOI":"10.1186\/gb-2004-5-4-219"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_026","doi-asserted-by":"crossref","unstructured":"Watanabe, T, Ito, Y, Sato, A, Hosono, T, Niimi, S, Ariga, T, et al.. Annexin A3 as a negative regulator of adipocyte differentiation. J Biochem 2012;152:355\u201363. https:\/\/doi.org\/10.1093\/jb\/mvs084.","DOI":"10.1093\/jb\/mvs084"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_027","doi-asserted-by":"crossref","unstructured":"Bai, Z, Li, Y, Li, Y, Pan, J, Wang, J, Fang, F. Long noncoding RNA and messenger RNA abnormalities in pediatric sepsis: a preliminary study. BMC Med Genomics 2020;13:36. https:\/\/doi.org\/10.1186\/s12920-020-0698-x.","DOI":"10.1186\/s12920-020-0698-x"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_028","doi-asserted-by":"crossref","unstructured":"Nam, K, Kim, J, Lee, S. Genome-wide study on 72,298 Korean individuals in Korean biobank data for 76 traits. Cell Genom 2022;2:100189. https:\/\/doi.org\/10.1016\/j.xgen.2022.100189.","DOI":"10.1016\/j.xgen.2022.100189"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_029","doi-asserted-by":"crossref","unstructured":"Passone, CGB, Franco, RR, Ito, SS, Trindade, E, Polak, M, Damiani, D, et al.. Growth hormone treatment in Prader-Willi syndrome patients: systematic review and meta-analysis. BMJ Paediatr Open 2020;4:e000630. https:\/\/doi.org\/10.1136\/bmjpo-2019-000630.","DOI":"10.1136\/bmjpo-2019-000630"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_030","doi-asserted-by":"crossref","unstructured":"Damen, L, Grootjen, LN, Donze, SH, Juriaans, AF, de Graaff, LCG, van der Velden, J, et al.. Three years of growth hormone treatment in young adults with\u00a0Prader-Willi Syndrome previously treated with\u00a0growth hormone in childhood: effects on glucose homeostasis\u00a0and metabolic syndrome. Clin Endocrinol (Oxf) 2020;93:439\u201348. https:\/\/doi.org\/10.1111\/cen.14274.","DOI":"10.1111\/cen.14274"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_031","doi-asserted-by":"crossref","unstructured":"Damen, L, Donze, SH, Kuppens, RJ, Bakker, NE, de Graaff, LCG, van der Velden, JAEM, et al.. Three years of growth hormone treatment in young adults with Prader-Willi syndrome: sustained positive effects on body composition. Orphanet J Rare Dis 2020;15:163. https:\/\/doi.org\/10.1186\/s13023-020-01440-6.","DOI":"10.1186\/s13023-020-01440-6"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_032","doi-asserted-by":"crossref","unstructured":"Zhou, Y-C, Waxman, DJ. Cross-talk between janus kinase-signal transducer and activator of transcription (JAK-STAT) and peroxisome proliferator-activated receptor-alpha (PPARalpha) signaling pathways. Growth hormone inhibition of PPARalpha transcriptional activity mediated by stat5b. J Biol Chem 1999;274:2672\u201381. https:\/\/doi.org\/10.1074\/jbc.274.5.2672.","DOI":"10.1074\/jbc.274.5.2672"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_033","doi-asserted-by":"crossref","unstructured":"Kolarova, J, Ammerpohl, O, Gutwein, J, Welzel, M, Baus, I, Riepe, FG, et al.. In vivo investigations of the effect of short- and long-term recombinant growth hormone treatment on DNA-methylation in humans. PLoS One 2015;10:e0120463. https:\/\/doi.org\/10.1371\/journal.pone.0120463.","DOI":"10.1371\/journal.pone.0120463"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_034","doi-asserted-by":"crossref","unstructured":"Morales, JS, Valenzuela, PL, Pareja-Galeano, H, Rinc\u00f3n-Castanedo, C, Rubin, DA, Lucia, A. Physical exercise and Prader-Willi syndrome: a systematic review. Clin Endocrinol (Oxf) 2019;90:649\u201361. https:\/\/doi.org\/10.1111\/cen.13953.","DOI":"10.1111\/cen.13953"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_035","doi-asserted-by":"crossref","unstructured":"Miller, JL, Lynn, CH, Driscoll, DC, Goldstone, AP, Gold, JA, Kimonis, V, et al.. Nutritional phases in Prader-Willi syndrome. Am J Med Genet A 2011;155A:1040\u20139. https:\/\/doi.org\/10.1002\/ajmg.a.33951.","DOI":"10.1002\/ajmg.a.33951"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_036","doi-asserted-by":"crossref","unstructured":"Suzuki, T, Hara, H. Dietary fat and bile juice, but not obesity, are responsible for the increase in small intestinal permeability induced through the suppression of tight junction protein expression in LETO and OLETF rats. Nutr Metab (Lond) 2010;7:19. https:\/\/doi.org\/10.1186\/1743-7075-7-19.","DOI":"10.1186\/1743-7075-7-19"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_037","doi-asserted-by":"crossref","unstructured":"Okamoto, K, Iwasaki, N, Doi, K, Noiri, E, Iwamoto, Y, Uchgata, Y, et al.. Inhibition of glucose-stimulated insulin secretion by KCNJ15, a newly identified susceptibility gene for type 2 diabetes. Diabetes 2012;61:1734\u201341. https:\/\/doi.org\/10.2337\/db11-1201.","DOI":"10.2337\/db11-1201"},{"key":"2025082013043661974_j_jpem-2024-0408_ref_038","doi-asserted-by":"crossref","unstructured":"Randi, EB, Casili, G, Jacquemai, S, Szabo, C. Selenium-binding protein 1 (SELENBP1) supports hydrogen sulfide biosynthesis and adipogenesis. 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