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[Genome-wide association study for rheumatoid arthritis]. [类风湿关节炎全基因组关联研究]。
Clinical calcium Pub Date : 2016-04-01
Yuta Kochi
{"title":"[Genome-wide association study for rheumatoid arthritis].","authors":"Yuta Kochi","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Rheumatoid arthritis(RA)is a multifactorial disease, where both genetic and environmental factors are involved. Genome-wide association studies have been identified more than 100 loci associated with RA. Majority of these loci are expression quantitative trait loci(eQTLs), in which genetic variants regulate the level of transcription. Here, I review the genetic background of RA, by describing the RA-associated genes such as HLA-DRB1, PADI4, and CCR6.</p>","PeriodicalId":502100,"journal":{"name":"Clinical calcium","volume":"26 4","pages":"561-6"},"PeriodicalIF":0.0,"publicationDate":"2016-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145351290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[ix-layer structure for genomics:A powerful conceptual framework that integrates research, test and treatment]. [基因组学的六层结构：整合研究、测试和治疗的强大概念框架]。
Clinical calcium Pub Date : 2016-04-01
Naoyuki Kamatani
{"title":"[ix-layer structure for genomics:A powerful conceptual framework that integrates research, test and treatment].","authors":"Naoyuki Kamatani","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Genomic data are now available from various fields of medicine and biology, and I proposed a conceptual framework \"Six-layer structure\" to integrate various areas of genomics. The proposed layers are \"life\" as the uppermost layer, followed by \"species\",\"population\",\"family\",\"individual\",and finally \"cell\" as the bottommost layer. In each pair of adjacent layers, each member of the upper layer comprises a set of members of the lower layer. In each layer, we can define consistent partial orders of members based on genomic data in the forms of phylogenic and pedigree trees. Based on this framework, we can give integrated explanations for various researches, tests and drug therapies concerning genomic data, and we can use this framework for new discoveries as well as new test and drug developments.</p>","PeriodicalId":502100,"journal":{"name":"Clinical calcium","volume":"26 4","pages":"579-85"},"PeriodicalIF":0.0,"publicationDate":"2016-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145351307","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Application of big data analyses for musculoskeletal cell differentiation]. 【大数据分析在肌肉骨骼细胞分化中的应用】。
Clinical calcium Pub Date : 2016-04-01
Yuuki Imai
{"title":"[Application of big data analyses for musculoskeletal cell differentiation].","authors":"Yuuki Imai","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Next generation sequencer has strongly progress big data analyses in life science. Among various kinds of sequencing data sets, epigenetic platform has just been important key to clarify the questions on broad and detail phenomenon in various forms of life. In this report, it is introduced that the research on identification of novel transcription factors in osteoclastogenesis using DNase-seq. Big data on musculoskeletal research will be organized by IFMRS and is getting more crucial.</p>","PeriodicalId":502100,"journal":{"name":"Clinical calcium","volume":"26 4","pages":"573-8"},"PeriodicalIF":0.0,"publicationDate":"2016-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145351255","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Genome-wide association study for adolescent idiopathic scoliosis]. [青少年特发性脊柱侧凸的全基因组关联研究]。
Clinical calcium Pub Date : 2016-04-01
Yoji Ogura, Ikuyo Kou, Japan Scoliosis, Morio Matsumoto, Kota Watanabe, Shiro Ikegawa
{"title":"[Genome-wide association study for adolescent idiopathic scoliosis].","authors":"Yoji Ogura, Ikuyo Kou, Japan Scoliosis, Morio Matsumoto, Kota Watanabe, Shiro Ikegawa","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Adolescent idiopathic scoliosis(AIS)is a polygenic disease. Genome-wide association studies(GWASs)have been performed for a lot of polygenic diseases. For AIS, we conducted GWAS and identified the first AIS locus near LBX1. After the discovery, we have extended our study by increasing the numbers of subjects and SNPs. In total, our Japanese GWAS has identified four susceptibility genes. GWASs for AIS have also been performed in the USA and China, which identified one and three susceptibility genes, respectively. Here we review GWASs in Japan and abroad and functional analysis to clarify the pathomechanism of AIS.</p>","PeriodicalId":502100,"journal":{"name":"Clinical calcium","volume":"26 4","pages":"553-60"},"PeriodicalIF":0.0,"publicationDate":"2016-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145351287","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Transcriptome analysis and epigenetic analysis during osteoclastogenesis]. [破骨细胞发生过程中的转录组分析和表观遗传学分析]。
Clinical calcium Pub Date : 2016-04-01
Shinya Nakamura, Sakae Tanaka
{"title":"[Transcriptome analysis and epigenetic analysis during osteoclastogenesis].","authors":"Shinya Nakamura, Sakae Tanaka","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The importance of receptor activator of nuclear factor-κB ligand(RANKL)during osteoclastogenesis was discovered in 1998. After that Nfatc1, downstream gene of RANKL-RANK signaling, was identified as a master regulator of osteoclastogenesis by transcriptome analysis. In recent years, with the advancement of epigenetic analysis method and big data analysis technology, epigenetic analysis about osteoclastogenesis gradually progresses. Some papers using H3K4me3 and H3K27me3 histone modification change data, DNase-seq data and formaldehyde-assisted isolation of regulatory elements(FAIRE)-seq data during osteoclastogenesis were published recently. It will probably contribute to elucidate the crosstalk between osteoclasts and osteoblasts, osteocytes or chondrocytes in the future.</p>","PeriodicalId":502100,"journal":{"name":"Clinical calcium","volume":"26 4","pages":"567-72"},"PeriodicalIF":0.0,"publicationDate":"2016-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145351223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Genome-wide association study for Osteoporosis]. [骨质疏松症的全基因组关联研究]。
Clinical calcium Pub Date : 2016-04-01
Seijiro Mori
{"title":"[Genome-wide association study for Osteoporosis].","authors":"Seijiro Mori","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Numerous studies on genetic risks for osteoporosis have been performed to date, mainly using genome-wide association studies(GWAS)for assessing bone mineral density(BMD)as a quantitative trait, and recent large-scale meta-analyses of GWAS have identified a number of single nucleotide polymorphisms(SNPs)associated with low BMD or increased risk of fracture. Several of these SNPs cluster within the RANK signaling, mesenchymal stem cell differentiation, endochondral ossification, and Wnt signaling pathways. GWAS performed in Japanese populations also identified novel osteoporosis susceptibility genes such as FONG, WDSOF1 and GPR98. It is estimated that previously identified loci associated with BMD in total explain ~5%of the genetic variance for this trait. Some genetic risk scores based on BMD-decreasing alleles of the SNPs have been developed, however, their prediction ability for the risk of osteoporosis and fracture appears to be limited when BMD is known.</p>","PeriodicalId":502100,"journal":{"name":"Clinical calcium","volume":"26 4","pages":"537-43"},"PeriodicalIF":0.0,"publicationDate":"2016-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145351229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Unfolded protein response in osteoclastogenesis]. 未折叠蛋白在破骨细胞发生中的反应。
Clinical calcium Pub Date : 2016-04-01
Keisuke Horiuchi
{"title":"[Unfolded protein response in osteoclastogenesis].","authors":"Keisuke Horiuchi","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Secreted proteins are synthesized and folded to acquire three-dimensional conformation in the endoplasmic reticulum(ER). Accumulation of unfolded proteins in the ER lumen triggers various cellular signals to remove these proteins and normalize the functions of the ER. This cellular mechanism is called the unfolded protein response(UPR)and medicated by three distinct signaling pathways in mammalian cells. Studies over the past decade have revealed that the UPR also has diverse functions that are not necessarily related to the maintenance of the ER. In osteoblasts and chondrocytes, it is now clear that the UPR not only functions to expand the capacity of the ER but also regulates the differentiation of these cells. Furthermore, recent studies suggest that the UPR is induced in osteoclast precursors after RANKL stimulation and has roles in osteoclastogenesis. This short review summarizes the findings of the recent studies on the unconventional roles of the UPR in osteoclast differentiation.</p>","PeriodicalId":502100,"journal":{"name":"Clinical calcium","volume":"26 4","pages":"601-8"},"PeriodicalIF":0.0,"publicationDate":"2016-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145351253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Recent treatment for medication-related osteonecrosis of the jaw]. [颌骨药物相关性骨坏死的近期治疗]。
Clinical calcium Pub Date : 2016-04-01
Yoshihide Ota, Masashi Sasaki
{"title":"[Recent treatment for medication-related osteonecrosis of the jaw].","authors":"Yoshihide Ota, Masashi Sasaki","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The mechanism and etiopathogenesis of medication-related osteonecrosis of the jaw (MRONJ) have never been unclear. Therefore, there is no consensus regarding the clinical management of patients with MRONJ. In Japan, Bisphosphonate-Related Osteonecrosis of the Jaw:Position Paper from the Allied Task Force Committee of Japanese Society for Bone and Mineral Research, Japan Osteoporosis Society, Japanese Society of Periodontology, Japanese Society for Oral and Maxillofacial, Radiology and Japanese Society of Oral and Maxillofacial Surgeons is frequently used as criterion. The purpose of this paper is discussing about MRONJ according to the Japanese position paper.</p>","PeriodicalId":502100,"journal":{"name":"Clinical calcium","volume":"26 4","pages":"612-21"},"PeriodicalIF":0.0,"publicationDate":"2016-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145351276","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Genomic analysis of ossification of the posterior longitudinal ligament]. 后纵韧带骨化的基因组分析。
Clinical calcium Pub Date : 2016-04-01
Takashi Tsuji
{"title":"[Genomic analysis of ossification of the posterior longitudinal ligament].","authors":"Takashi Tsuji","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>OPLL is considered as a multi-factorial disease influenced by genetic and environmental factors. To identify genetic factors for OPLL, Genetic Study Group of Investigation Committee on Ossification of the Spinal Ligament performed a genome-wide association study(GWAS)using 1,660 OPLL patients. The study group identified six susceptibility loci for OPLL:20p12.3(rs2423294:P= 1.10 × 10(-13)), 8q23.1(rs374810:P= 1.88 × 10(-13)),12p11.22(rs1979679:P= 4.34 × 10(-12)), 12p12.2(rs11045000:P= 2.95 × 10(-11)),8q23.3(rs13279799:P= 1.28 × 10(-10))and 6p21.1(rs927485:P= 9.40 × 10(-9)).A further functional study for the susceptibility loci should aid in clarification of etiology of OPLL.</p>","PeriodicalId":502100,"journal":{"name":"Clinical calcium","volume":"26 4","pages":"545-52"},"PeriodicalIF":0.0,"publicationDate":"2016-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145351304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Whole-Exome Sequencing for monogenic disorders affecting the orthopaedic system]. [影响骨科系统的单基因疾病的全外显子组测序]。
Clinical calcium Pub Date : 2016-04-01
Eri Imagawa, Noriko Miyake, Naomichi Matsumoto
{"title":"[Whole-Exome Sequencing for monogenic disorders affecting the orthopaedic system].","authors":"Eri Imagawa, Noriko Miyake, Naomichi Matsumoto","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Next-generation sequencing technologies enable comprehensive genetic analyses in monogenic and oligonenic diseases. Especially whole-exome sequencing(WES)targeting exonic regions of protein coding genes is mainly used for Mendelian diseases. Here we describe a case of Hand-foot-genital syndrome arising from a HOXA13 mutation[c.1102A>T(p.Ile368Phe)]as one of successful examples in our successful WES analyses.</p>","PeriodicalId":502100,"journal":{"name":"Clinical calcium","volume":"26 4","pages":"515-23"},"PeriodicalIF":0.0,"publicationDate":"2016-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145351321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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