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A Genome-Wide Association Study Identifies Susceptibility Variants for Type 2 Diabetes in Han Chinese
Fuu-Jen Tsai equal contributor,Chi-Fan Yang equal contributor,Ching-Chu Chen equal contributor,Lee-Ming Chuang,Chieh-Hsiang Lu,Chwen-Tzuei Chang,Tzu-Yuan Wang,Rong-Hsing Chen,Chiung-Fang Shiu,Yi-Min Liu,Chih-Chun Chang,Pei Chen,Chien-Hsiun Chen,Cathy S. J. Fann,Yuan-Tsong Chen ,Jer-Yuarn Wu
PLOS Genetics , 2010, DOI: 10.1371/journal.pgen.1000847
Abstract: To investigate the underlying mechanisms of T2D pathogenesis, we looked for diabetes susceptibility genes that increase the risk of type 2 diabetes (T2D) in a Han Chinese population. A two-stage genome-wide association (GWA) study was conducted, in which 995 patients and 894 controls were genotyped using the Illumina HumanHap550-Duo BeadChip for the first genome scan stage. This was further replicated in 1,803 patients and 1,473 controls in stage 2. We found two loci not previously associated with diabetes susceptibility in and around the genes protein tyrosine phosphatase receptor type D (PTPRD) (P = 8.54×10?10; odds ratio [OR] = 1.57; 95% confidence interval [CI] = 1.36–1.82), and serine racemase (SRR) (P = 3.06×10?9; OR = 1.28; 95% CI = 1.18–1.39). We also confirmed that variants in KCNQ1 were associated with T2D risk, with the strongest signal at rs2237895 (P = 9.65×10?10; OR = 1.29, 95% CI = 1.19–1.40). By identifying two novel genetic susceptibility loci in a Han Chinese population and confirming the involvement of KCNQ1, which was previously reported to be associated with T2D in Japanese and European descent populations, our results may lead to a better understanding of differences in the molecular pathogenesis of T2D among various populations.
Cytochrome P450c17a (CYP17) gene polymorphism is not associated with leiomyoma susceptibility
Yao-Yuan Hsieh,Fuu-Jen Tsai,Chi-Chen Chang,Chang-Hai Tsai
Genetics and Molecular Biology , 2002,
Abstract: Estrogen plays a role in the pathogenesis of leiomyoma. The CYP17 gene codes for the cytochrome P450c17alpha enzyme, which is involved in the biosynthesis of estrogen. Our aim was to investigate if CYP17 polymorphism could be a useful marker to predict the susceptibility to leiomyoma. Our sample of female subjects was divided into two groups: (1) with leiomyoma (n = 159); (2) without leiomyoma (n = 128). A 169-bp fragment encompassing the A1/A2 polymorphic site of the CYP17 gene was amplified by polymerase chain reaction (PCR), restricted by enzyme MspA1I and electrophored on agarose gel. Genotypes and allelic frequencies for this polymorphism in both groups were compared. There was no significant difference between the two groups regarding the distribution of the CYP17 gene polymorphism frequencies. The A1 homozygote/heterozygote/A2 homozygote proportions for CYP17 in both groups were: (1) 17.0/46.5/36.5%, and (2) 17.2/45.3/37.5%. The proportions for alleles A1 and A2 were also comparable in the two groups. A1 and A2 allele frequencies were: 7% (40.3/59) in group 1, and 2% (39.8/60) in group 2. No significant association was observed between the risk of leiomyoma and polymorphisms of the CYP 17 gene. So, CYP17 gene polymorphism does not appear to be a useful marker for the prediction of leiomyoma susceptibility.
Thymic stromal lymphopoietin gene promoter polymorphisms and expression levels in Graves’ disease and Graves’ ophthalmopathy
Tsai Kun-Hsi,Tsai Fuu-Jen,Lin Hui-Ju,Lin Hung-Jung
BMC Medical Genetics , 2012, DOI: 10.1186/1471-2350-13-116
Abstract: Background Graves disease (GD) is an organ-specific autoimmune disease characterized by hyperthyroidism, diffuse goiter, autoantibodies against thyroid-specific antigens, and dermopathy. Studies of GD have demonstrated the importance of the Th2 and Th17 immune responses in mediating disease progression. In the present study, we investigated the role of a Th2 cytokine, thymic stromal lymphopoietin (TSLP), in GD and Th17 differentiation. Methods In this study, we genotyped 470 patients with GD at 3 single nucleotide polymorphisms (SNPs) in TSLP. In addition, the serum concentrations of TSLP were determined in 432 patients and 272 controls. Ten patients and controls each were further screened using in vitro Th17 differentiation assays. The SNPs were genotyped using ABI TaqMan SNP genotyping assays. For the Th17 differentiation assays, peripheral blood mononuclear cells (PBMCs) isolated from the patients and controls were placed into Th17 differentiation media, and interleukin 17 expression levels were determined. Results Haplotype analysis indicated that patients with the Ht3 (TCC) haplotype have a 3.28-fold higher risk of developing GD (p = 0.007), whereas those with the Ht5 (TCG) haplotype had a 0.03-fold, reduced risk of developing GD (p = 1 × 10 14). SNP rs3806933 (p = 0.007) was associated with female Graves ophthalmopathy (GO). TSLP expression levels were higher in GD patients than in control subjects, and TLSP was also shown to promote the differentiation of Th17 cells in GD patients. Conclusions These results suggest that polymorphisms in TSLP may be used as genetic markers for the diagnosis and prognosis of GD. Furthermore, TLSP may be a target for treating GD.
Growth Hormone Deficiency in a Case of Crouzon Syndrome with Hydrocephalus
Mei-Hong Wen, Hui-Pin Hsiao, Mei-Chyn Chao, Fuu-Jen Tsai
International Journal of Pediatric Endocrinology , 2010, DOI: 10.1155/2010/876514
Abstract: In 1912, Crouzon described a syndrome that consisted of brachycephaly, shallow orbits, and maxillary hypoplasia [1]. Since then, craniofacial syndromes have been subcategorized into over a hundred syndromes based on the severity of the craniofacial and associated congenital malformations [2]. Crouzon syndrome, along with Apert, Carpenter, Chotzen, and Pfeiffer syndromes, is one of the most common genetic disorders associated with a craniofacial syndrome. Other facial deformities in Crouzon syndrome may include prominent nose, frontal bossing, and ocular proptosis due to shallow orbits with or without hypertelorism, although age-related phenotype modifications have been reported [3].Patients of Crouzon syndrome may occasionally present with hydrocephalus, seizures, and mental retardation. The incidence of hydrocephalus in craniosynostosis ranges from 4% to 26% [4, 5]. Nonetheless, short stature with growth hormone deficiency (GHD) and/or iron deficiency anemia (IDA) have rarely been reported in the literature. Here we report a case of Crouzon syndrome with hydrocephalus, also presenting with severe short stature due to GHD and IDA.An 11 and a half-year-old boy visited our out-patient clinic for frequent dizziness and marked growth retardation. He was a case of Crouzon syndrome which had been suspected since infancy. The positive facial features were brachycephaly, hypoplasia maxilla, severe ocular proptosis (Hertel's exophthalmometry measuring 22-23?mm on both eyes) with hypertelorism, and low-set ears. He had a 3200?gm birth weight and was born to a generally healthy mother via NSD at 40?wks' gestational age. Owing to severe hydrocephalus and cerebellar tonsil herniation (Chiari I malformation) revealed by magnetic resonance imaging (MRI), he had endoscopic third ventriculostomy and shunt at the age of 13?months. Six months later, he received frontal advancement and ventricular shunting because of a progressive increase in ventricular size and rising intracranial pr
Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity
Chi-Fan Yang, Jer-Yuarn Wu, Fuu-Jen Tsai
Journal of Biomedical Science , 2010, DOI: 10.1186/1423-0127-17-79
Abstract: One of the two Han Chinese patients with GM1 presented with the juvenile form, and the other with the infantile form with cardiac involvement. Sequencing of the entire GLB1 gene revealed three novel mutations (p.H102 D, p.G494V, c.495_497delTCT), which were absent in 94 normal controls. Transient expression of cDNA encoding these variants was performed in COS-1 cells to evaluate β-galactosidase activities.The first case (patient 1) with the juvenile form contained two missense mutations, p.H102 D and p.A301V. Patient 2 diagnosed with the infantile form of the disease with cardiac involvement was compound heterozygous for p.G494V and c.495_497delTCT mutations. All mutant beta-galactosidases exhibited significantly reduced activity (12%, 0%, 0%, and 0% for p.H102 D, p.A301V, p.G494V, and c.495_497delTCT), compared with the wild-type beta-galactosidase cDNA clone. The mutations identified in patient 2 with cardiomyopathy were localized in the GLB1 gene region common to both lysosomal beta-galactosidase and elastin binding protein (EBP), and caused a deletion in the elastin-binding domain of EBP.All four mutations identified in Han Chinese patients induce significant suppression of β-galactosidase activity, correlating with severity of disease and presence of cardiomyopathy.Human β-galactosidase (E.C.; MIM# 230500) is an lysosomal enzyme that removes β-ketosidically linked galactose residues from glycoproteins, sphingolipids, and keratin sulfate [1]. Deficiency of acid β-galactosidase leads to two metabolic storage diseases, specifically, GM1 gangliosidosis (GM1) and Morquio B disease (MBD, mucopolysaccharidosis type IVB, MPS IVB), inherited as autosomal recessive traits. In GM1 gangliosidosis, absence or suppression of β-galactosidase activity causes excessive accumulation of GM1 ganglioside in neuronal tissue while β-linked galactose-terminal oligosaccharides arising from the lysosomal digestion of glycoproteins are stored in visceral organs and excreted in ur
Association of genetic variations in GNB1 with response to peginterferon plus ribavirin therapy for chronic hepatitis C in a Chinese population in Taiwan
Lim Yun-Ping,Tsai Fuu-Jen,Liao Wen-Ling,Tien Ni
BMC Gastroenterology , 2012, DOI: 10.1186/1471-230x-12-167
Abstract: Background The aim of this study was to evaluate whether polymorphisms in the guanine nucleotide binding (G protein), beta polypeptide 1 (GNB1) gene are associated with a rapid virological response (RVR) among HCV genotype 1 (HCV-1) and 2 (HCV-2) infected patients receiving peginterferon plus ribavirin treatment (PEG-IFNα-RBV). Methods We analyzed the association between RVR to PEG-IFNα-RBV therapy and 4 tagging single nucleotide polymorphisms (SNPs) of the GNB1 gene. This study included 265 HCV-1 and 195 HCV-2 infected patients in a Chinese population in Taiwan. Results Among the GNB1 SNPs examined, the combination of genotypes G/G and G/T populations of rs12126768 was significant inversely correlated with RVR in HCV-1 infected patients (P = 0.0330), whereas HCV-2 infected patients, combination of A/A and A/C genotypes populations at rs4648727 responded better to the PEG-IFNα-RBV treatment (P = 0.0089). However, there were no significant differences in the allele frequencies of those SNPs between RVR responders and non-responders. Several RVR susceptibility GNB1 haplotypes were identified, and the ACAT haplotype of the 4 SNPs may increase the successful outcomes of HCV-1 and HCV-2 infected patients (P = 0.0261 and P = 0.0253, respectively). Conclusion The data for GNB1 SNPs and the association of RVR showed that GNB1 polymorphisms might be associated with the therapeutic outcomes of HCV-1 and HCV-2 infected patients under standard of care (SOC) treatment.
Growth Hormone Deficiency in a Case of Crouzon Syndrome with Hydrocephalus
Wen Mei-Hong,Hsiao Hui-Pin,Chao Mei-Chyn,Tsai Fuu-Jen
International Journal of Pediatric Endocrinology , 2010, DOI: 10.1186/1687-9856-2010-876514
Abstract: Crouzon syndrome is one of the most common craniofacial syndromes and is inherited as autosomal dominant with variable expression. We report an 11 and a half-year-old boy with Crouzon syndrome with severe growth retardation. He had hydrocephalus since infancy and recently suffered from frequent dizziness. His bone age was only 5 years according to the Greulich and Pyle atlas. Magnetic resonance imaging showed shallow orbits, obstructive hydrocephalus, and cerebellar tonsil herniation. Growth hormone provocative tests revealed a reduced peak growth hormone response in both insulin and clonidine tests. Severe iron deficiency anemia was noted at the same time. Molecular analysis identified a common mutation point of Cys278Phe for Crouzon syndrome in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene. Since growth retardation is not a common feature of Crouzon syndrome, we reviewed the literature for the incidence of hydrocephalus in Crouzon syndrome and the association with growth hormone deficiency.
STAT2*C related genotypes and allele but not TLR4 and CD40 gene polymorphisms are associated with higher susceptibility for asthma
Yao-Yuan Hsieh, Lei Wan, Chi-Chen Chang, Chang-Hai Tsai, Fuu-Jen Tsai
International Journal of Biological Sciences , 2009,
Abstract: Objective: Asthma is caused by a complex interaction between multiple genes and environmental factors. Herein we aimed to investigate whether signal transducer and activator of transcription (STAT2), toll-like receptors 4 (TLRs4) and CD40-related polymorphisms are associated with asthma susceptibility. Design: Children were divided: (1) asthma (n=117); (2) normal controls (n=60). The polymorphisms of STAT2, TLR4 and CD40 polymorphism were analyzed by PCR-RFLP genotyping. Genotypes, allelic frequencies and association of haplotypes in both groups were compared. Results: STAT2*C related genotypes, but not TLR4 and CD40 polymorphism, are associated with higher susceptibility for asthma. Distributions of STAT2*CC/CG/GG and C/G allele in both groups are: (1) 0/11.1/88.9 % and 5.6/94.4%; (2) 0/1.7/98.3% and 0.8/99.2% (p<0.05). Proportions of TLR4*rs10983755 AA/AG/GG and rs1927914 CC/CT/TT homozygote are: (1) 35.1/8.5/56.4% and 9.4/56.4/34.2%; (2) 35/8.3/56.7% and 16.7/48.3/35% (non-difference). Proportions of CD40*rs1883832 CC/CT/TT, rs3765459 AA/AG/GG, and rs4810485 TT/GT/GG are: (1) 29.9/53/17.1%, 6.8/47.9/45.3 and 18.8/62.4/18.8%; (2) 36.7/41.7/21.6%, 1.6/46.7/ 51.7 and 15/51.7/33.3% (non-difference). Haplotype analyses for TLR4 and CD40 genes revealed their non-association and non-additional effect upon asthma susceptibilities. Conclusion: STAT2*C related genotypes and alleles are associated with asthma susceptibilities and pathogenesis. There were non-association and non-additional effects of TLR4/CD40 gene polymorphisms and haplotypes upon asthma risk.
The Yang-Tonifying Herbal Medicine Cynomorium songaricum Extends Lifespan and Delays Aging in Drosophila
Hsin-Ping Liu,Rong-Fu Chang,Yih-Shyuan Wu,Wei-Yong Lin,Fuu-Jen Tsai
Evidence-Based Complementary and Alternative Medicine , 2012, DOI: 10.1155/2012/735481
Abstract: Aging is highly correlated with the progressive loss of physiological function, including cognitive behavior and reproductive capacity, as well as an increased susceptibility to diseases; therefore, slowing age-related degeneration could greatly contribute to human health. Cynomorium songaricum Rupr. (CS) is traditionally used to improve sexual function and treat kidney dysfunction in traditional Chinese medicine, although little is known about whether CS has effects on longevity. Here, we show that CS supplementation in the diet extends both the mean and maximum lifespan of adult female flies. The increase in lifespan with CS was correlated with higher resistance to oxidative stress and starvation and lower lipid hydroperoxides (LPO) levels. Additionally, the lifespan extension was accompanied by beneficial effects, such as improved mating readiness, increased fecundity, and suppression of age-related learning impairment in aged flies. These findings demonstrate the important antiaging effects of CS and indicate the potential applicability of dietary intervention with CS to enhance health and prevent multiple age-related diseases.
Urokinase gene 3'-UTR T/C polymorphism is not associated with bladder cancer
Hsi-Chin, Wu;Chao-Hsiang, Chang;Wen-Chi, Chen;Huey-Yi, Chen;Fuu-Jen, Tsai;
Genetics and Molecular Biology , 2004, DOI: 10.1590/S1415-47572004000100003
Abstract: urokinase degrades basement proteins and is hypothesized to play a role in cancer progression. we investigated the hypothesis of c/t polymorphism in the 3'-untranslated region (3'-utr) of the urokinase gene being associated with the development of bladder cancer. such an association seems unlikely, since the genotype distributions in 114 bladder cancer patients did not differ from those of 105 controls.
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