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排序方式: 共有187条查询结果,搜索用时 312 毫秒
141.
K Shiraishi H Kunitoh Y Daigo A Takahashi K Goto H Sakamoto S Ohnami Y Shimada K Ashikawa A Saito S Watanabe K Tsuta N Kamatani T Yoshida Y Nakamura J Yokota M Kubo T Kohno 《Nature genetics》2012,44(8):900-903
Lung adenocarcinoma is the most common histological type of lung cancer, and its incidence is increasing worldwide. To identify genetic factors influencing risk of lung adenocarcinoma, we conducted a genome-wide association study and two validation studies in the Japanese population comprising a total of 6,029 individuals with lung adenocarcinoma (cases) and 13,535 controls. We confirmed two previously reported risk loci, 5p15.33 (rs2853677, P(combined) = 2.8 × 10(-40), odds ratio (OR) = 1.41) and 3q28 (rs10937405, P(combined) = 6.9 × 10(-17), OR = 1.25), and identified two new susceptibility loci, 17q24.3 (rs7216064, P(combined) = 7.4 × 10(-11), OR = 1.20) and 6p21.3 (rs3817963, P(combined) = 2.7 × 10(-10), OR = 1.18). These data provide further evidence supporting a role for genetic susceptibility in the development of lung adenocarcinoma. 相似文献
142.
Tanikawa C Urabe Y Matsuo K Kubo M Takahashi A Ito H Tajima K Kamatani N Nakamura Y Matsuda K 《Nature genetics》2012,44(4):430-4, S1-2
Through a genome-wide association analysis with a total of 7,035 individuals with duodenal ulcer and 25,323 controls from Japan, we identified two susceptibility loci at the PSCA gene (encoding prostate stem cell antigen) at 8q24 and at the ABO blood group locus at 9q34. The C allele of rs2294008 at PSCA was associated with increased risk of duodenal ulcer (odds ratio (OR) = 1.84; P = 3.92 × 10(-33)) in a recessive model but was associated with decreased risk of gastric cancer (OR = 0.79; P = 6.79 × 10(-12)), as reported previously. The T allele of rs2294008 encodes a translation initiation codon upstream of the reported site and changes protein localization from the cytoplasm to the cell surface. rs505922 at ABO was also associated with duodenal ulcer in a recessive model (OR = 1.32; P = 1.15 × 10(-10)). Our findings demonstrate a role for genetic variants in the pathogenesis of duodenal ulcer. 相似文献
143.
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population 总被引:1,自引:0,他引:1
Okada Y Terao C Ikari K Kochi Y Ohmura K Suzuki A Kawaguchi T Stahl EA Kurreeman FA Nishida N Ohmiya H Myouzen K Takahashi M Sawada T Nishioka Y Yukioka M Matsubara T Wakitani S Teshima R Tohma S Takasugi K Shimada K Murasawa A Honjo S Matsuo K Tanaka H Tajima K Suzuki T Iwamoto T Kawamura Y Tanii H Okazaki Y Sasaki T Gregersen PK Padyukov L Worthington J Siminovitch KA Lathrop M Taniguchi A Takahashi A Tokunaga K Kubo M Nakamura Y Kamatani N Mimori T Plenge RM Yamanaka H Momohara S Yamada R 《Nature genetics》2012,44(5):511-516
Rheumatoid arthritis is a common autoimmune disease characterized by chronic inflammation. We report a meta-analysis of genome-wide association studies (GWAS) in a Japanese population including 4,074 individuals with rheumatoid arthritis (cases) and 16,891 controls, followed by a replication in 5,277 rheumatoid arthritis cases and 21,684 controls. Our study identified nine loci newly associated with rheumatoid arthritis at a threshold of P < 5.0 × 10(-8), including B3GNT2, ANXA3, CSF2, CD83, NFKBIE, ARID5B, PDE2A-ARAP1, PLD4 and PTPN2. ANXA3 was also associated with susceptibility to systemic lupus erythematosus (P = 0.0040), and B3GNT2 and ARID5B were associated with Graves' disease (P = 3.5 × 10(-4) and 2.9 × 10(-4), respectively). We conducted a multi-ancestry comparative analysis with a previous meta-analysis in individuals of European descent (5,539 rheumatoid arthritis cases and 20,169 controls). This provided evidence of shared genetic risks of rheumatoid arthritis between the populations. 相似文献
144.
Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population 总被引:1,自引:0,他引:1
145.
Takahashi Y Kou I Takahashi A Johnson TA Kono K Kawakami N Uno K Ito M Minami S Yanagida H Taneichi H Tsuji T Suzuki T Sudo H Kotani T Watanabe K Chiba K Hosono N Kamatani N Tsunoda T Toyama Y Kubo M Matsumoto M Ikegawa S 《Nature genetics》2011,43(12):1237-1240
Adolescent idiopathic scoliosis is a pediatric spinal deformity affecting 2-3% of school-age children worldwide(1). Genetic factors have been implicated in its etiology(2). Through a genome-wide association study (GWAS) and replication study involving a total of 1,376 Japanese females with adolescent idiopathic scoliosis and 11,297 female controls, we identified a locus at chromosome 10q24.31 associated with adolescent idiopathic scoliosis susceptibility. The most significant SNP (rs11190870; combined P = 1.24 × 10(-19); odds ratio (OR) = 1.56) is located near LBX1 (encoding ladybird homeobox 1). The identification of this susceptibility locus provides new insights into the pathogenesis of adolescent idiopathic scoliosis. 相似文献
146.
147.
Kagami M Sekita Y Nishimura G Irie M Kato F Okada M Yamamori S Kishimoto H Nakayama M Tanaka Y Matsuoka K Takahashi T Noguchi M Tanaka Y Masumoto K Utsunomiya T Kouzan H Komatsu Y Ohashi H Kurosawa K Kosaki K Ferguson-Smith AC Ishino F Ogata T 《Nature genetics》2008,40(2):237-242
Human chromosome 14q32.2 carries a cluster of imprinted genes including paternally expressed genes (PEGs) such as DLK1 and RTL1 and maternally expressed genes (MEGs) such as MEG3 (also known as GTL2), RTL1as (RTL1 antisense) and MEG8 (refs. 1,2), together with the intergenic differentially methylated region (IG-DMR) and the MEG3-DMR. Consistent with this, paternal and maternal uniparental disomy for chromosome 14 (upd(14)pat and upd(14)mat) cause distinct phenotypes. We studied eight individuals (cases 1-8) with a upd(14)pat-like phenotype and three individuals (cases 9-11) with a upd(14)mat-like phenotype in the absence of upd(14) and identified various deletions and epimutations affecting the imprinted region. The results, together with recent mouse data, imply that the IG-DMR has an important cis-acting regulatory function on the maternally inherited chromosome and that excessive RTL1 expression and decreased DLK1 and RTL1 expression are relevant to upd(14)pat-like and upd(14)mat-like phenotypes, respectively. 相似文献
148.
149.
Type 1 diabetes is an autoimmune disease influenced by multiple genetic loci. Although more than 20 insulin-dependent diabetes (Idd) loci have been implicated in the nonobese diabetic (NOD) mouse model, few causal gene variants have been identified. Here we show that RNA interference (RNAi) can be used to probe candidate genes in this disease model. Slc11a1 encodes a phagosomal ion transporter, Nramp1, that affects resistance to intracellular pathogens and influences antigen presentation. This gene is the strongest candidate among the 42 genes in the Idd5.2 region; a naturally occurring mutation in the protective Idd5.2 haplotype results in loss of function of the Nramp1 protein. Using lentiviral transgenesis, we generated NOD mice in which Slc11a1 is silenced by RNAi. Silencing reduced the frequency of type 1 diabetes, mimicking the protective Idd5.2 region. Our results demonstrate a role for Slc11a1 in modifying susceptibility to type 1 diabetes and illustrate that RNAi can be used to study causal genes in a mammalian model organism. 相似文献
150.
Kyoko Takahashi 《Cellular and molecular life sciences : CMLS》2014,71(6):1045-1054
Cellular information is inherited by daughter cells through epigenetic routes in addition to genetic routes. Epigenetics, which is primarily mediated by inheritable DNA methylation and histone post-translational modifications, involves changes in the chromatin structure important for regulating gene expression. It is widely known that epigenetic control of gene expression plays an essential role in cell differentiation processes in vertebrates. Furthermore, because epigenetic changes can occur reversibly depending on environmental factors in differentiated cells, they have recently attracted considerable attention as targets for disease prevention and treatment. These environmental factors include diet, exposure to bacteria or viruses, and air pollution, of which this review focuses on the influence of bacteria on epigenetic gene control in a host. Host-bacterial interactions not only occur upon pathogenic bacterial infection but also continuously exist between commensal bacteria and the host. These bacterial stimuli play an essential role in various biological responses involving external stimuli and in maintaining physiological homeostasis by altering epigenetic markers and machinery. 相似文献