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Search Results: 1 - 10 of 436 matches for " Shiro Ikegawa "
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Replication of association of the D-repeat polymorphism in asporin with osteoarthristis
Shiro Ikegawa, Shingo Kawamura, Atsushi Takahashi, Takahiro Nakamura, Naoyuki Kamatani
Arthritis Research & Therapy , 2006, DOI: 10.1186/ar1992
Abstract: It is not surprising that an association of a gene with a disease is found in some populations but not in others. Such diversity has been established for many common complex diseases with several explanations [5]. In this particular case, one explanation is the difference in the inclusion criteria used to recruit study participants. Whereas we recruited symptomatic OA patients with supporting radiographic evidence, Rodriguez-Lopez and colleagues used joint replacement surgery as inclusion criteria (Table 1).Another explanation is ethnic diversity, which is apparent in the very different allelic frequencies between the Spanish and Japanese populations. We question the authors' generalization of the three European populations (Spanish, Greek and UK) as 'European Caucasian', given the diverse frequencies of asporin alleles in the three populations [1,3,4] (Table 2), as well as their history and geography. The Spanish population in particular is distinct from the others; for example, the frequency of the common allele, Asp13 (D13), in the Spanish control groups shows statistically significant differences (p = 0.00088 versus UK; p = 0.021 versus Greek). The allelic frequency in hip OA also is very different.However, it is notable that in studies of knee OA for all three European populations, the allelic frequency of D13 is decreased and that of D14 is increased in the case group – the same trend observed in our Japanese study (Table 2). In all four populations, the odds ratios exceed 1. Given that the deviation of the odds ratio is random, the probability for its occurrence by chance is (1/2)4 = 1/16, which is substantially low. If we combine data for all three European populations, the association becomes significant (p = 0.030; odds ratio 1.26, 95% confidence interval 1.02 to 1.56). We believe that this estimation is valid because the inclusion criteria are the same, provided that the ethnicity is consistent as the Spanish group itself proposed. If so, the association
Prediction model for knee osteoarthritis based on genetic and clinical information
Hiroshi Takahashi, Masahiro Nakajima, Kouichi Ozaki, Toshihiro Tanaka, Naoyuki Kamatani, Shiro Ikegawa
Arthritis Research & Therapy , 2010, DOI: 10.1186/ar3157
Abstract: We genotyped risk alleles of the three susceptibility genes, asporin (ASPN), growth differentiation factor 5 (GDF5), and double von Willebrand factor A domains (DVWA) for a total of 2,158 Japanese subjects (933 OA and 1,225 controls) and statistically analyzed their effects. After that, we constructed prediction models by using the logistic regression analysis.When the effects of each allele were assumed to be the same and multiplicative, each additional risk allele increased the odds ratio (OR) by a factor of 1.23 (95% confidence interval (CI), 1.12 to 1.34). Individuals with five or six risk alleles showed significantly higher susceptibility when compared with those with zero or one, with an OR of 2.67 (95% CI, 1.46 to 4.87; P = 0.0020). Statistical evaluation of the prediction power of models showed that a model using only genotyping data had poor predictability. We obtained a model with good predictability by incorporating clinical data, which was further improved by rigorous age adjustment.Our results showed that consideration of adjusted clinical information, as well as increases in the number of risk alleles to be integrated, is critical for OA prediction by using data from case-control studies. To the authors' knowledge, this is the first report of the OA-prediction model combining both genetic and clinical information.Osteoarthritis (OA) is the most common bone and joint disease and is characterized by progressive cartilage degeneration. OA is a polygenic disease caused by genetic and environmental factors [1]. Epidemiologic studies have suggested that genetic factors strongly affect the onset and development of OA [2]. Genetic association studies are now uncovering the genetic factors responsible for of OA, that is, its susceptibility genes. Candidate-gene approaches have identified several genes associated with OA, and genome-wide association studies have recently found several promising OA-susceptibility genes [1,3].Identification of OA-susceptibility ge
Association of the D repeat polymorphism in the ASPN gene with developmental dysplasia of the hip: a case-control study in Han Chinese
Dongquan Shi, Jin Dai, Pengsheng Zhu, Jianghui Qin, Lunqing Zhu, Hongtao Zhu, Baocheng Zhao, Xusheng Qiu, Zhihong Xu, Dongyang Chen, Long Yi, Shiro Ikegawa, Qing Jiang
Arthritis Research & Therapy , 2011, DOI: 10.1186/ar3252
Abstract: The D repeat polymorphism was genotyped in 370 DDH patients and 445 control subjects, and the allelic association of the D repeat was examined.From D11 to D18, eight alleles were identified. D13 allele is the most common allele both in control and DDH groups, the frequencies are 67.3% and 58.1% respectively. In the DDH group, a significantly higher frequency of the D14 allele and significantly lower frequency of D13 was observed. The association of D14 and D13 was found in both females and males after stratification by gender. There was no significant difference in any other alleles we examined.Our results show an obvious association between the D repeat polymorphism of ASPN and DDH. It indicates that ASPN is an important regulator in the etiology of DDH.Developmental dysplasia of the hip (DDH; MIM 142700) is a common skeletal disease, which is characterized by abnormal seating of the femoral head in the acetabulum [1]. The incidence of DDH varies from 1 per 1,000 to 18.4 per 1,000 in the Caucasian population, and in the Chinese the incidence of DDH is about 4 per 1,000 [1,2]. DDH could lead to early onset of hip osteoarthritis because of increased contact pressure between the acetabulum and femoral head [3-5]. Shallow acetabulum and lax capsule were considered to be the main causes of DDH [6,7]. Several family studies indicated that a considerable genetic component played an important role in the etiology of DDH [8-10]. A genome-wide screening from a large four-generation Japanese family of acetabular dysplasia had revealed a linkage between DDH and a specific region at chromosome 13 [11]. We had detected a definite association between a functional SNP in GDF5 and DDH by a case-control study in the Chinese population, and this association was also found in Caucasians [12,13].Asporin (ASPN) is an ECM protein which belongs to the family of small leucine-rich repeat proteins [14]. Previous studies indicated that ASPN could bind to TGF-β1 and block its interaction with
Association of single-nucleotide polymorphisms in RHOB and TXNDC3 with knee osteoarthritis susceptibility: two case-control studies in East Asian populations and a meta-analysis
Dongquan Shi, Takahiro Nakamura, Masahiro Nakajima, Jin Dai, Jianghui Qin, Haijian Ni, Yong Xu, Chen Yao, Jia Wei, Baorui Liu, Shiro Ikegawa, Qing Jiang
Arthritis Research & Therapy , 2008, DOI: 10.1186/ar2423
Abstract: We genotyped the previously implicated SNPs rs585017 (in RHOB) and rs4720262 (in TXNDC3) in patients with primary symptomatic knee OA with radiographic confirmation and in matched control individuals, and analyzed their associations. We further conducted a meta-analysis of the study findings together with those of previously reported European studies using the DerSimonian-Laird procedure.A significant association of RHOB with knee OA was observed in male Chinese patients (P = 0.02). No significant associations were found for RHOB in any other comparisons in the East Asian populations. The association of TXNDC3 was replicated in Chinese female (P = 0.04) and Japanese (P = 0.03) patients, although none of these associations persisted after Bonferroni correction. Significant association (P = 0.02 for the allelic frequency) with nonsignificant heterogeneity was found in the East Asian replication study. No significant association was found in any comparison in the meta-analysis for all studies.Our study replicates the association, previously reported in European Caucasians, of TXNDC3 with knee OA susceptibility in an East Asian population.Osteoarthritis (OA; OMIM [Online Mendelian Inheritance in Man] 165720) is a type of arthritis that is caused by breakdown and eventual loss of the cartilage of synovial joints. OA is the most common type of arthritis, with a high incidence in East Asian populations [1,2]. Epidemiological studies have shown that OA has a strong genetic component, and several susceptibility genes for OA have been identified [3-6].Marh and coworkers [7] examined regulatory polymorphisms in the 5' regions of the genes that potentially allow for differential expression in vivo, and they found positive association for RHOB and TXNDC3 in European Caucasians living in Germany. RHOB belongs to the family of small GTPases, and is constitutively expressed and essential in adult articular chondrocytes, but it is significantly downregulated in OA chondrocytes [7].
Lack of association between the CALM1 core promoter polymorphism (-16C/T) and susceptibility to knee osteoarthritis in a Chinese Han population
Dongquan Shi, Haijian Ni, Jin Dai, Jianghui Qin, Yong Xu, Lunqing Zhu, Chen Yao, Zhenxing Shao, Dongyang Chen, Zhihong Xu, Long Yi, Shiro Ikegawa, Qing Jiang
BMC Medical Genetics , 2008, DOI: 10.1186/1471-2350-9-91
Abstract: A case-control association study was conducted. The polymorphism was genotyped in 183 patients who had primary symptomatic knee OA with radiographic confirmation and in 210 matched controls. Allelic and genotypic frequencies were compared between patients and control subjects.No significant difference was detected in genotype or allele distribution between knee OA and control groups (all P > 0.05). The association was also negative even after stratification by sex. Furthermore, no association between the -16C/T SNP genotype and the clinical variables age, sex, BMI (body mass index) and K/L (Kellgren/Lawrence) score was observed in OA patients.The present study suggests that the CALM1 core promoter polymorphism -16C/T is not a risk factor for knee OA susceptibility in the Chinese Han population. Further studies are needed to give a global view of this polymorphism in pathogenesis of OA.Osteoarthritis (OA) is a common musculoskeletal disease among the elderly, characterized by the degradation of articular cartilage and formation of abnormal bone (osteophyte). It is a multifactorial disorder in which aging, genetic, hormonal and mechanical factors are all major contributors to its onset and progression [1]. Results of family-based and candidate gene studies have demonstrated a clear genetic component, particularly for early-onset OA [2-4]. The identification of candidate genes for OA susceptibility has mainly focused on genes encoding collagens (particularly for type II collagen), for other structural proteins of the extracellular cartilage matrix(ECM), the vitamin D and estrogen receptor genes, and for bone and cartilage growth factors [5]. And it is expected that some genes which regulate the formation, degradation, and repair of articular cartilage and subchondral bone metabolism may determine the occurrence of osteoarthritis. However, the specific underlying genetic factors and mechanisms in the development of osteoarthritis need to be further researched.Calmodulin
FOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst
Yoji Ogura, Shoji Yabuki, Aritoshi Iida, Ikuyo Kou, Masahiro Nakajima, Hiroki Kano, Masaaki Shiina, Shinichi Kikuchi, Yoshiaki Toyama, Kazuhiro Ogata, Masaya Nakamura, Morio Matsumoto, Shiro Ikegawa
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0080548
Abstract: Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal that protrudes into the epidural space from a defect in the dura mater. Most cases are sporadic; however, three familial SEDAC cases have been reported, suggesting genetic etiological factors. All familial cases are associated with lymphedema-distichiasis syndrome (LDS), whose causal gene is FOXC2. However, FOXC2 mutation analysis has been performed in only 1 family, and no mutation analysis has been performed on sporadic (non-familial) SEDACs. We recruited 17 SEDAC subjects consisting of 2 familial and 7 sporadic cases and examined FOXC2 mutations by Sanger sequencing and structural abnormalities by TaqMan copy number assay. We identified 2 novel FOXC2 mutations in 2 familial cases. Incomplete LDS penetrance was noted in both families. Four subjects presented with SEDACs only. Thus, SEDAC caused by the heterozygous FOXC2 loss-of-function mutation should be considered a feature of LDS, although it often manifests as the sole symptom. Seven sporadic SEDAC subjects had no FOXC2 mutations, no symptoms of LDS, and showed differing clinical characteristics from those who had FOXC2 mutations, suggesting that other gene(s) besides FOXC2 are likely to be involved in SEDAC.
A New Interpretation of Quantum Mechanics  [PDF]
Shiro Ishikawa
Journal of Quantum Information Science (JQIS) , 2011, DOI: 10.4236/jqis.2011.12005
Abstract: The Copenhagen interpretation is the most authorized interpretation of quantum mechanics, but there are a number of ideas that are associated with the Copenhagen interpretation. It is ceratin that this fact is not necessarily desirable. Thus, we propose a new interpretation of measurement theory, which is the linguistic aspect (or, the mathematical generalization) of quantum mechanics. Although this interpretation is superficially similar to a part of so-called Copenhagen interpretation, we show that it has a merit to be applicable to both quantum and classical systems. For example, we say that Bell’s inequality is broken even in classical systems.
Quantum Mechanics and the Philosophy of Language:Reconsideration of Traditional Philosophies  [PDF]
Shiro Ishikawa
Journal of Quantum Information Science (JQIS) , 2012, DOI: 10.4236/jqis.2012.21002
Abstract: Recently we proposed “a new interpretation of quantum mechanics (called quantum and classical measurement theory)” in this journal (JQIS: Vol. 1, No. 2), which was characterized as the metaphysical and linguistic turn of quantum mechanics. This turn from physics to language does not only realize the remarkable extension of quantum mechanics but also yield the quantum mechanical world view (i.e., the philosophy of quantum mechanics). And thus, the turn urges us to dream that traditional philosophies (i.e., Parmenides, Plato, Aristotle, Descartes, John Locke, Berkeley, Hume, Kant, Saussure, Wittgenstein, etc.) can be understood in the quantum mechanical world view. This dream will be challenged in this paper. We, of course, know that most scientists are skeptical to philosophy. Still, we can expect that readers find a good linguistic philosophy (i.e. philosophy of language) in quantum mechanics.
Ergodic Hypothesis and Equilibrium Statistical Mechanics in the Quantum Mechanical World View  [PDF]
Shiro Ishikawa
World Journal of Mechanics (WJM) , 2012, DOI: 10.4236/wjm.2012.22014
Abstract: In this paper, we study and answer the following fundamental problems concerning classical equilibrium statistical mechanics: 1): Is the principle of equal a priori probabilities indispensable for equilibrium statistical mechanics? 2): Is the ergodic hypothesis related to equilibrium statistical mechanics? Note that these problems are not yet answered, since there are several opinions for the formulation of equilibrium statistical mechanics. In order to answer the above questions, we first introduce measurement theory (i.e., the theory of quantum mechanical world view), which is characterized as the linguistic turn of quantum mechanics. And we propose the measurement theoretical foundation of equili-brium statistical mechanics, and further, answer the above 1) and 2), that is, 1) is “No”, but, 2) is “Yes”.
A Measurement Theoretical Foundation of Statistics  [PDF]
Shiro Ishikawa
Applied Mathematics (AM) , 2012, DOI: 10.4236/am.2012.33044
Abstract: It is a matter of course that Kolmogorov’s probability theory is a very useful mathematical tool for the analysis of statistics. However, this fact never means that statistics is based on Kolmogorov’s probability theory, since it is not guaranteed that mathematics and our world are connected. In order that mathematics asserts some statements concerning our world, a certain theory (so called “world view”) mediates between mathematics and our world. Recently we propose measurement theory (i.e., the theory of the quantum mechanical world view), which is characterized as the linguistic turn of quantum mechanics. In this paper, we assert that statistics is based on measurement theory. And, for example, we show, from the pure theoretical point of view (i.e., from the measurement theoretical point of view), that regression analysis can not be justified without Bayes’ theorem. This may imply that even the conventional classification of (Fisher’s) statistics and Bayesian statistics should be reconsidered.
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