Epigenetics最新文献_第3页

Observational methods for human studies of transgenerational effects. 人类跨代效应研究的观察方法。

IF 3.7 3区生物学

Epigenetics Pub Date : 2024-12-01 Epub Date: 2024-06-13 DOI: 10.1080/15592294.2024.2366065

Rebecca Richards-Steed, Neng Wan, Amanda Bakian, Richard M Medina, Simon C Brewer, Ken R Smith, James A VanDerslice

{"title":"Observational methods for human studies of transgenerational effects.","authors":"Rebecca Richards-Steed, Neng Wan, Amanda Bakian, Richard M Medina, Simon C Brewer, Ken R Smith, James A VanDerslice","doi":"10.1080/15592294.2024.2366065","DOIUrl":"10.1080/15592294.2024.2366065","url":null,"abstract":"There are substantial challenges in studying human transgenerational epigenetic outcomes resulting from environmental conditions. The task requires specialized methods and tools that incorporate specific knowledge of multigenerational relationship combinations of probands and their ancestors, phenotype data for individuals, environmental information of ancestors and their descendants, which can span historical to present datasets, and informative environmental data that chronologically aligns with ancestors and descendants over space and time. As a result, there are few epidemiologic studies of potential transgenerational effects in human populations, thus limiting the knowledge of ancestral environmental conditions and the potential impacts we face with modern human health outcomes. In an effort to overcome some of the challenges in studying human transgenerational effects, we present two transgenerational study designs: transgenerational space-time cluster detection and transgenerational case-control study design. Like other epidemiological methods, these methods determine whether there are statistical associations between phenotypic outcomes (e.g., adverse health outcomes) among probands and the shared environments and environmental factors facing their ancestors. When the ancestor is a paternal grandparent, a statistically significant association provides some evidence that a transgenerational inheritable factor may be involved. Such results may generate useful hypotheses that can be explored using epigenomic data to establish conclusive evidence of transgenerational heritable effects. Both methods are proband-centric: They are designed around the phenotype of interest in the proband generation for case selection and family pedigree creation. In the examples provided, we incorporate at least three generations of paternal lineage in both methods to observe a potential transgenerational effect.","PeriodicalId":11767,"journal":{"name":"Epigenetics","volume":"19 1","pages":"2366065"},"PeriodicalIF":3.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11178273/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141317181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

IL21R hypomethylation as a biomarker for distinguishing benign and malignant breast tumours. IL21R 低甲基化是区分良性和恶性乳腺肿瘤的生物标记物。

IF 3.7 3区生物学

Epigenetics Pub Date : 2024-12-01 Epub Date: 2024-05-09 DOI: 10.1080/15592294.2024.2352683

Zishan Zang, Yifei Yin, Chunlan Liu, Qiang Zhu, Xuandong Huang, Hong Li, Rongxi Yang

{"title":"IL21R hypomethylation as a biomarker for distinguishing benign and malignant breast tumours.","authors":"Zishan Zang, Yifei Yin, Chunlan Liu, Qiang Zhu, Xuandong Huang, Hong Li, Rongxi Yang","doi":"10.1080/15592294.2024.2352683","DOIUrl":"10.1080/15592294.2024.2352683","url":null,"abstract":"Some benign and malignant breast tumours are similar in pathological morphology, which are difficult to be distinguished in clinical diagnosis. In this study, we intended to explore novel biomarkers for differential diagnosis of benign and malignant breast tumours. Methylation EPIC 850K beadchip and RNA-sequencing were used to analyse 29 tissue samples from patients with early-stage breast cancer (BC) and benign breast tumours for differently methylated and expressed genes. The altered methylation of IL21R was semi-quantitatively validated in an independent study with 566 tissue samples (279 BC vs. 287 benign breast tumours) using mass spectrometry. Binary logistic regression analysis was performed to evaluate the association between IL21R methylation and BC. BC-associated IL21R hypomethylation and overexpression were identified in the discovery round. In the validation round, BC patients presented significant IL21R hypomethylation compared to women with benign breast tumours (ORs ≥1.29 per-10% methylation, p-values ≤ 5.69E-14), and this hypomethylation was even enhanced in BC patients with ER-negative and PR-negative tumours as well as with triple-negative tumours. The methylation of IL21R showed efficient discriminatory power to distinguish benign breast tumours from BC (area under curve (AUC) = 0.88), and especially from ER-negative BC (AUC = 0.95), PR-negative BC (AUC = 0.93) and triple-negative BC (AUC = 0.96). We disclosed significant IL21R hypomethylation in patients with BC compared to women with benign breast tumours, and revealed the somatic change of DNA methylation could be a potential biomarker for molecular pathology of BC.","PeriodicalId":11767,"journal":{"name":"Epigenetics","volume":"19 1","pages":"2352683"},"PeriodicalIF":3.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11086039/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140897502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Integration of miRNA expression analysis of purified leukocytes and whole blood reveals blood-borne candidate biomarkers for lung cancer. 整合纯化白细胞和全血的 miRNA 表达分析揭示了肺癌的血源性候选生物标志物。

IF 2.9 3区生物学

Epigenetics Pub Date : 2024-12-01 Epub Date: 2024-08-20 DOI: 10.1080/15592294.2024.2393948

Guini Hong, Yue Huo, Yaru Gao, Liyuan Ma, Shuang Li, Tian Tian, Haijian Zhong, Hongdong Li

{"title":"Integration of miRNA expression analysis of purified leukocytes and whole blood reveals blood-borne candidate biomarkers for lung cancer.","authors":"Guini Hong, Yue Huo, Yaru Gao, Liyuan Ma, Shuang Li, Tian Tian, Haijian Zhong, Hongdong Li","doi":"10.1080/15592294.2024.2393948","DOIUrl":"10.1080/15592294.2024.2393948","url":null,"abstract":"Changes in leukocyte populations may confound the disease-associated miRNA signals in the blood of cancer patients. We aimed to develop a method to detect differentially expressed miRNAs from lung cancer whole blood samples that are not influenced by variations in leukocyte proportions. The Ref-miREO method identifies differential miRNAs unaffected by changes in leukocyte populations by comparing the within-sample relative expression orderings (REOs) of miRNAs from healthy leukocyte subtypes and those from lung cancer blood samples. Over 77% of the differential miRNAs observed between lung cancer and healthy blood samples overlapped with those between myeloid-derived and lymphoid-derived leukocytes, suggesting the potential impact of changes in leukocyte populations on miRNA profile. Ref-miREO identified 16 differential miRNAs that target 19 lung adenocarcinoma-related genes previously linked to leukocytes. These miRNAs showed enrichment in cancer-related pathways and demonstrated high potential as diagnostic biomarkers, with the LASSO regression models effectively distinguishing between healthy and lung cancer blood or serum samples (all AUC > 0.85). Additionally, 12 of these miRNAs exhibited significant prognostic correlations. The Ref-miREO method offers valuable candidates for circulating biomarker detection in cancer that are not affected by changes in leukocyte populations.","PeriodicalId":11767,"journal":{"name":"Epigenetics","volume":"19 1","pages":"2393948"},"PeriodicalIF":2.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11340745/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142008522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Sex and tissue-specificity of piRNA regulation in adult mice following perinatal lead (Pb) exposure. 围产期铅（Pb）暴露后成年小鼠 piRNA 调节的性别和组织特异性。

IF 2.9 3区生物学

Epigenetics Pub Date : 2024-12-01 Epub Date: 2024-11-13 DOI: 10.1080/15592294.2024.2426952

Bambarendage P U Perera, Kai Wang, Dongyue Wang, Kathleen Chen, Alisa Dewald, Swati Sriram, Jaclyn M Goodrich, Laurie K Svoboda, Maureen A Sartor, Dana C Dolinoy

{"title":"Sex and tissue-specificity of piRNA regulation in adult mice following perinatal lead (Pb) exposure.","authors":"Bambarendage P U Perera, Kai Wang, Dongyue Wang, Kathleen Chen, Alisa Dewald, Swati Sriram, Jaclyn M Goodrich, Laurie K Svoboda, Maureen A Sartor, Dana C Dolinoy","doi":"10.1080/15592294.2024.2426952","DOIUrl":"10.1080/15592294.2024.2426952","url":null,"abstract":"Lead (Pb) is a neurotoxicant with early life exposure linked to long-term health effects. Piwi-interacting RNAs (piRNAs) are small non-coding RNAs that associate with PIWIL proteins to induce DNA methylation. It remains unknown whether Pb exposure influences piRNA expression. This study evaluated how perinatal Pb exposure (32 ppm in drinking water) impacts piRNA expression in adult mice and assessed piRNA dysregulation as a potential mechanism for Pb-induced toxicity. Pb exposure effects on piRNA expression and associated gene repression in the germline (testis/ovary) and soma (liver and brain) were evaluated. Small RNA sequencing was used to determine differentially expressed piRNAs, RT-qPCR to examine piRNA target expression, and whole genome bisulfite sequencing to evaluate target DNA methylation status. Three piRNAs (mmpiR-1500602, mmpiR-0201406, and mmpiR-0200026) were significant after multiple testing correction (all downregulated in the male Pb-exposed brain in comparison to control; FDR < 0.05). Within piOxiDB, TAO Kinase 3 was identified as a downstream mRNA target for one of the three Pb-sensitive piRNA. The Pb-exposed male brain exhibited increased Taok3 expression (p < 0.05) and decreased DNA methylation (FDR < 0.01). The results demonstrate that perinatal Pb exposure stably influences longitudinal piRNA expression in a tissue- and sex-specific manner, potentially via DNA methylation-directed mechanisms.","PeriodicalId":11767,"journal":{"name":"Epigenetics","volume":"19 1","pages":"2426952"},"PeriodicalIF":2.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11562917/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142617066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Letter to the editor: critical evaluation of the reliability of DNA methylation probes on the illumina MethylationEPIC v1.0 BeadChip microarrays. 致编辑的信：对illumina MethylationEPIC v1.0 BeadChip芯片上DNA甲基化探针可靠性的批判性评估。

IF 2.9 3区生物学

Epigenetics Pub Date : 2024-12-01 Epub Date: 2024-10-04 DOI: 10.1080/15592294.2024.2411470

Julian Hecker, Scott T Weiss, Jessica A Lasky-Su, Dawn L DeMeo, Christoph Lange

引用次数: 0

Epigenome-wide association study of loneliness in a sample of U.S. middle-aged twins.

IF 2.9 3区生物学

Epigenetics Pub Date : 2024-12-01 Epub Date: 2024-12-08 DOI: 10.1080/15592294.2024.2427999

Christopher R Beam, Kelly M Bakulski, Ebrahim Zandi, Eric Turkheimer, Morgan Lynch, Alaina I Gold, Thalida Em Arpawong, Sophie A Bell, Alyssa C Kam, Jonathan Becker, Deborah Winders Davis

{"title":"Epigenome-wide association study of loneliness in a sample of U.S. middle-aged twins.","authors":"Christopher R Beam, Kelly M Bakulski, Ebrahim Zandi, Eric Turkheimer, Morgan Lynch, Alaina I Gold, Thalida Em Arpawong, Sophie A Bell, Alyssa C Kam, Jonathan Becker, Deborah Winders Davis","doi":"10.1080/15592294.2024.2427999","DOIUrl":"10.1080/15592294.2024.2427999","url":null,"abstract":"Loneliness is a complex human trait that is highly polygenic and found to affect gene expression related to inflammatory and immunological functioning. To date, no epigenome-wide association studies of loneliness have tested whether differentially methylated sites are annotated to genes associated with inflammatory and immunological processes. Using 281 individual adult twins' DNA methylation data from the Louisville Twin Study, we performed an epigenome-wide analysis of loneliness to address this gap in the literature. In the discovery analysis, 169 twins were used to prioritize probes and test associations with DNA methylation age acceleration, and 56 independent monozygotic (MZ) twin pairs (112 individuals) were used in a within-family replication analysis. Among the 837,274 sites analyzed, no probe sites were statistically significant at the genome-wide level (p < 5.97 × 10-8), but 25 suggestive sites (p < 5 × 10-5) were annotated to genes related to various biological processes, including inflammatory response and protein-binding functions that extend prior findings. The nominal associations at these suggestive probe sites were highly correlated (r = .72) between the discovery sample and the MZ pair replication sample. Finally, loneliness significantly correlated with the DunedinPACE DNA methylation measure, suggesting that higher levels of loneliness were associated with accelerated epigenetic age as quantified by a measure that indexes longitudinal changes across multiple organ systems.","PeriodicalId":11767,"journal":{"name":"Epigenetics","volume":"19 1","pages":"2427999"},"PeriodicalIF":2.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633227/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142793911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

N6-methyladenosine methylation analysis of long noncoding RNAs and mRNAs in 5-FU-resistant colon cancer cells. 5-FU耐药结肠癌细胞中长非编码RNA和mRNA的N6-甲基腺苷甲基化分析

IF 3.7 3区生物学

Epigenetics Pub Date : 2024-12-01 Epub Date: 2023-12-25 DOI: 10.1080/15592294.2023.2298058

Jie Lai, Zhiyong Zhou, Kan Hu, HongLong Yu, Xingyao Su, Xiaoqiang Niu, Huizi Li, Shengxun Mao

{"title":"N6-methyladenosine methylation analysis of long noncoding RNAs and mRNAs in 5-FU-resistant colon cancer cells.","authors":"Jie Lai, Zhiyong Zhou, Kan Hu, HongLong Yu, Xingyao Su, Xiaoqiang Niu, Huizi Li, Shengxun Mao","doi":"10.1080/15592294.2023.2298058","DOIUrl":"10.1080/15592294.2023.2298058","url":null,"abstract":"N6 methyladenosine (m6A), methylation at the sixth N atom of adenosine, is the most common and abundant modification in mammalian mRNAs and non-coding RNAs. Increasing evidence shows that the alteration of m6A modification level could regulate tumour proliferation, metastasis, self-renewal, and immune infiltration by regulating the related expression of tumour genes. However, the role of m6A modification in colorectal cancer (CRC) drug resistance is unclear. Here, MeRIP-seq and RNA-seq techniques were utilized to obtain mRNA, lncRNA expression, and their methylation profiles in 5-Fluorouracil (5-FU)-resistant colon cancer HCT-15 cells and control cells. In addition, we performed detailed bioinformatics analysis as well as in vitro experiments of lncRNA to explore the function of lncRNA with differential m6A in CRC progression and drug resistance. In this study, we obtained the m6A methylomic landscape of CRC cells and resistance group cells by MeRIP-seq and RNA-seq. We identified 3698 differential m6A peaks, of which 2224 were hypermethylated, and 1474 were hypomethylated. Among the lncRNAs, 60 were hypermethylated, and 38 were hypomethylated. GO and KEGG analysis annotations showed significant enrichment of endocytosis and MAPK signalling pathways. Moreover, knockdown of lncRNA ADIRF-AS1 and AL139035.1 promoted CRC proliferation and invasive metastasis in vitro. lncRNA- mRNA network showed that ADIRF-AS1 and AL139035.1 May play a key role in regulating drug resistance formation. We provide the first m6A methylation profile in 5-FU resistance CRC cells and analyse the functions of differential m6A-modified mRNAs and lncRNAs. Our results indicated that differential m6A RNAs were significantly associated with MAPK signalling and endocytosis after induction of 5-FU resistance. Knockdown of LncRNA ADIRF-AS1 and AL139035.1 promotes CRC progression and might be critical in regulating drug resistance formation.","PeriodicalId":11767,"journal":{"name":"Epigenetics","volume":"19 1","pages":"2298058"},"PeriodicalIF":3.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10761136/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139037538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

An epigenetic human cytomegalovirus infection score predicts viremia risk in seropositive lung transplant recipients. 表观遗传学人类巨细胞病毒感染评分可预测血清反应阳性肺移植受者的病毒血症风险。

IF 2.9 3区生物学

Epigenetics Pub Date : 2024-12-01 Epub Date: 2024-10-03 DOI: 10.1080/15592294.2024.2408843

Fei-Man Hsu, Rashmi P Mohanty, Liudmilla Rubbi, Michael Thompson, Harry Pickering, Elaine F Reed, John R Greenland, Joanna M Schaenman, Matteo Pellegrini

{"title":"An epigenetic human cytomegalovirus infection score predicts viremia risk in seropositive lung transplant recipients.","authors":"Fei-Man Hsu, Rashmi P Mohanty, Liudmilla Rubbi, Michael Thompson, Harry Pickering, Elaine F Reed, John R Greenland, Joanna M Schaenman, Matteo Pellegrini","doi":"10.1080/15592294.2024.2408843","DOIUrl":"10.1080/15592294.2024.2408843","url":null,"abstract":"Cytomegalovirus (CMV) infection and reactivation in solid organ transplant (SOT) recipients increases the risk of viremia, graft failure and death. Clinical studies of CMV serostatus indicate that donor positive recipient negative (D+/R-) patients have greater viremia risk than D-/R-. The majority of patients are R+ having intermediate serologic risk. To characterize the long-term impact of CMV infection and assess viremia risk, we sought to measure the effects of CMV on the recipient immune epigenome. Specifically, we profiled DNA methylation in 156 individuals before lung or kidney transplant. We found that the methylome of CMV positive SOT recipients is hyper-methylated at loci associated with neural development and Polycomb group (PcG) protein binding, and hypo-methylated at regions critical for the maturation of lymphocytes. In addition, we developed a machine learning-based model to predict the recipient CMV serostatus after correcting for cell type composition and ancestry. This CMV episcore measured at baseline in R+ individual stratifies viremia risk accurately in the lung transplant cohort, and along with serostatus the CMV episcore could be a potential biomarker for identifying R+ patients at high viremia risk.","PeriodicalId":11767,"journal":{"name":"Epigenetics","volume":"19 1","pages":"2408843"},"PeriodicalIF":2.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11451273/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Decoding epigenetic markers: implications of traits and genes through DNA methylation in resilience and susceptibility to mastitis in dairy cows. 解码表观遗传标记：DNA 甲基化对奶牛抗病能力和乳腺炎易感性的影响。

IF 2.9 3区生物学

Epigenetics Pub Date : 2024-12-01 Epub Date: 2024-08-16 DOI: 10.1080/15592294.2024.2391602

Lotfi Bouzeraa, Helene Martin, Clement Plessis, Pascal Dufour, Jessica C S Marques, Sydney Moore, Ronaldo Cerri, Marc-Andre Sirard

{"title":"Decoding epigenetic markers: implications of traits and genes through DNA methylation in resilience and susceptibility to mastitis in dairy cows.","authors":"Lotfi Bouzeraa, Helene Martin, Clement Plessis, Pascal Dufour, Jessica C S Marques, Sydney Moore, Ronaldo Cerri, Marc-Andre Sirard","doi":"10.1080/15592294.2024.2391602","DOIUrl":"10.1080/15592294.2024.2391602","url":null,"abstract":"Cattle farming faces challenges linked to intensive exploitation and climate change, requiring the reinforcement of animal resilience in response to these dynamic environments. Currently, genetic selection is used to enhance resilience by identifying animals resistant to specific diseases; however, certain diseases, such as mastitis, pose difficulties in genetic prediction. This study introduced the utilization of enzymatic methyl sequencing (EM-seq) of the blood genomic DNA from twelve dairy cows to identify DNA methylation biomarkers, with the aim of predicting resilience and susceptibility to mastitis. The analysis uncovered significant differences between cows resilient and susceptible to mastitis, with 196,275 differentially methylated cytosines (DMCs) and 1,227 Differentially Methylated Regions (DMRs). Key genes associated with the immune response and morphological traits, including ENOPH1, MYL10 and KIR2DL5A, were identified by our analysis. Quantitative trait loci (QTL) were also highlighted and the body weight trait was the most targeted by DMCs and DMRs. Based on our results, the risk of developing mastitis can potentially be estimated with as few as fifty methylation biomarkers, paving the way for early animal selection. This research sets the stage for improved animal health management and economic yields within the framework of agricultural sustainability through early selection based on the epigenetic status of animals.","PeriodicalId":11767,"journal":{"name":"Epigenetics","volume":"19 1","pages":"2391602"},"PeriodicalIF":2.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11332640/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141992222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Identification and functional characterisation of DNA methylation differences between East- and West-originating Finns. 东西方芬兰人 DNA 甲基化差异的鉴定和功能特征。

IF 2.9 3区生物学

Epigenetics Pub Date : 2024-12-01 Epub Date: 2024-09-01 DOI: 10.1080/15592294.2024.2397297

Joanna Ciantar, Saara Marttila, Sonja Rajić, Daria Kostiniuk, Pashupati P Mishra, Leo-Pekka Lyytikäinen, Nina Mononen, Marcus E Kleber, Winfried März, Mika Kähönen, Olli Raitakari, Terho Lehtimäki, Emma Raitoharju

{"title":"Identification and functional characterisation of DNA methylation differences between East- and West-originating Finns.","authors":"Joanna Ciantar, Saara Marttila, Sonja Rajić, Daria Kostiniuk, Pashupati P Mishra, Leo-Pekka Lyytikäinen, Nina Mononen, Marcus E Kleber, Winfried März, Mika Kähönen, Olli Raitakari, Terho Lehtimäki, Emma Raitoharju","doi":"10.1080/15592294.2024.2397297","DOIUrl":"10.1080/15592294.2024.2397297","url":null,"abstract":"Eastern and Western Finns show a striking difference in coronary heart disease-related mortality; genetics is a known contributor for this discrepancy. Here, we discuss the potential role of DNA methylation in mediating the discrepancy in cardiometabolic disease-risk phenotypes between the sub-populations. We used data from the Young Finns Study (n = 969) to compare the genome-wide DNA methylation levels of East- and West-originating Finns. We identified 21 differentially methylated loci (FDR < 0.05; Δβ >2.5%) and 7 regions (smoothed FDR < 0.05; CpGs ≥ 5). Methylation at all loci and regions associates with genetic variants (p < 5 × 10-8). Independently of genetics, methylation at 11 loci and 4 regions associates with transcript expression, including genes encoding zinc finger proteins. Similarly, methylation at 5 loci and 4 regions associates with cardiometabolic disease-risk phenotypes including triglycerides, glucose, cholesterol, as well as insulin treatment. This analysis was also performed in LURIC (n = 2371), a German cardiovascular patient cohort, and results replicated for the association of methylation at cg26740318 and DMR_11p15 with diabetes-related phenotypes and methylation at DMR_22q13 with triglyceride levels. Our results indicate that DNA methylation differences between East and West Finns may have a functional role in mediating the cardiometabolic disease discrepancy between the sub-populations.","PeriodicalId":11767,"journal":{"name":"Epigenetics","volume":"19 1","pages":"2397297"},"PeriodicalIF":2.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11382697/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142105578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0