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Approximately 80% of kidney stone diseases contain calcium. Inherited genetic factors are among the variables that influence the development of calcium-containing kidney stone diseases (CKSD). Previous genome-wide association studies (GWAS) on stone diseases have been reported worldwide; however, these are not focused on calcium-containing stones. We conducted a GWAS to identify germline genetic polymorphisms associated with CKSD in a Medical Center in Taiwan; hence, this study was based primarily on a hospital-based database. CKSD was diagnosed using the chart records. Patients infected with urea-splitting-microorganisms and those with at least two urinary pH value below 5.5 were excluded. None of the patients had cystic stones based on stone analysis. Those over 40 years of age with no history of CKSD and no microscopic hematuria on urinalysis were considered as controls. The DNA isolated from the blood of 14,934 patients (63.7% male and 36.3% female) with CKSD and 29,868 controls (10,830 men and 19,038 women) at a medical center was genotyped for approximately 714,457 single nucleotide polymorphisms (SNPs) with minor allele frequency of ≥ 0.05. We used PLINK 1.9 to calculate the polygenic risk score (PRS) to investigate the association between CKSD and controls. The accuracy of the PRS was verified by dividing it into the training and testing groups. The statistical analyses were calculated with the area under the curve (AUC) using IBM SPSS version 22. We identified 432 susceptibility loci that reached a genome-wide threshold of P < 1.0 × 10− 5. A total of 132 SNPs reached a threshold of P < 5 × 10− 8 using a stricter definition of significance on chromosomes 4, 13, 16, 17, and 18. At the top locus of our study, SNPs in DGKH, PDILT, BCAS3, and ABCG2 have been previously reported. RN7SKP27, HDAC4, PCDH15, AP003068.2, and NFATC1 were novel findings in this study. PRS was adjusted for sex and age, resulting in an AUC of 0.65. The number of patients in the top quartile of PRS was 1.39 folds in the risk of CKSD than patients in the bottom quartile. Our data identified the significance of GWAS for patients with CKSD in a hospital-based study. The PRS also had a high AUC for discriminating patients with CKSD from controls. A total of 132 SNP loci of SNPs significantly associated with the development of CKSD. This first survey, which focused on patients with CKSD, will provide novel insights specific to CKSD and its potential clinical biomarkers. [ABSTRACT FROM AUTHOR]

Wealth management services for high-net-worth individuals in Taiwan have grown rapidly over the last decade. This study used a decision-making trial and evaluation laboratory approach to identify the criteria affecting the performance of Taiwan wealth management banks during the coronavirus disease (COVID-19) period. This research surveyed 17 executives from Taiwanese banks using 13 criteria covering three dimensions: bank performance, professionalism, and customer relationship. The results indicated that customer relationship and professionalism have an influence on key performance. Customer involvement (in customer relationship), innovative products and services (in professionalism), and customer satisfaction (in key performance) are the most influential criteria. The results suggest that banks can attract and retain customers by increasing their uses of products and services, developing innovative products, and improving customer satisfaction despite the negative effect of COVID-19. The findings of this study benefit wealth management bank managers in sustaining fee and commission income from high-net-worth customers in the midst of adverse social and economic events. [ABSTRACT FROM AUTHOR]

Objective: To investigate the genetic characteristics of idiopathic centr al precocious puberty (ICPP) and validate its polygenic risk for early puberty. Design and methods: A bootstrap subsampling and genome-wide association study were performed on Taiwanese Han Chinese girls comprising 321 ICPP patients and 148 controls. Using previous GWAS data on pubertal timing, a replication study was performed. A validation group was also in vestigated for the weighted polygenic risk score (wPRS) of the risk of early puberty. Results: A total of 105 SNPs for the risk of ICPP were identified, of whi ch 22 yielded an area under the receiver operating characteristic curve of 0.713 for the risk of early p uberty in the validation group. A replication study showed that 33 SNPs from previous GWAS data of pubertal timing were as sociated with the risk of ICPP (training group: P-value < 0.05). In the validation group, a cumulative effect was observe d between the wPRS and the risk of early puberty in a dose-dependent manner (validation group: Cochran-Armitage trend test: P-value < 1.00E-04; wPRS quartile 2 (Q2) (odds ratio (OR) = 5.00, 95% CI: 1.55-16.16), and wPRS Q3 (OR = 11.67, 95% CI: 2.44-55.83)). Conclusions: This study reveals the ICPP genetic characteristics with 22 in dependent and 33 reported SNPs in the Han Chinese population from Taiwan. This study may contribute to understand the genetic features and underlying biological pathways that control pubertal timing and pathogenes is of ICPP and also to the identification of individuals with a potential genetic risk of early puberty. [ABSTRACT FROM AUTHOR]

Purpose: This study aims to understand the impact of market power and competition on earnings management, particularly discretionary accruals, in the Chinese and Taiwanese tourism industries. China and Taiwan differ not only in their political and social systems but also in their economic systems. The research aims to provide managers and investors with stock selection strategy in the decision-making process. Design/methodology/approach: Accounting data consisted of 60 publicly traded travel companies in China and Taiwan from 2000 to 2014. Methodology included correlation matrix for the variables, univariate and multivariate regression and competition analysis. Findings: Based on empirical results, the authors found a significant negative correlation between market power and discretionary accruals and market concentration (or lower market competition) and discretionary accruals in both the Chinese or Taiwanese markets. Although the Chinese travel companies enjoyed higher market power and market concentration, they engaged in less earnings manipulation than their Taiwanese counterparts as a result of the Chinese Government regulation. Research limitations/implications: Based on listed travel companies, generalization of the research results to entire tourism industry is limited. This study compares the travel companies' practices of smoothing out earnings between China and Taiwan, thus helping managers and investors in making their financing, investment decisions. Originality/value: This research contributes to the earnings management literature by examining a specific industry of tourism. This paper is original in two ways. The authors linked market power and market competition with earnings management simultaneously and then compared the Chinese and Taiwanese tourism industries in manipulating earnings. [ABSTRACT FROM AUTHOR]

Background: This study presents an evaluation of the bidirectional correlation between attention deficit hyperactivity disorder (ADHD) and epilepsy using 2 cohorts from the same population database. Methods: We used data from the Taiwan National Health Insurance Research Database to establish 2 separate cohort studies with participants <19 years old. We subdivided Cohort 1 in 2 groups: (1) 2468 patients initially diagnosed with epilepsy during the period 1999–2008, and (2) 9810 randomly selected sex- and age-matched non-epileptic controls. We subdivided Cohort 2 into 2 groups: (1) 3664 patients with newly diagnosed ADHD and (2) 14 522 sex- and age-matched non-ADHD patients. We evaluated the risk of subsequent ADHD in relationship to epilepsy and vice versa in the 2 cohorts at the end of 2008. Results: The ADHD incidence in Cohort 1 was 7.76 in patients with epilepsy and 3.22 in those without epilepsy (per 1000 person-years) after a median follow-up of 7–7.5 years. The adjusted hazard ratio (HR) for ADHD was 2.54 (95% CI 2.02–3.18) in the epilepsy group compared to the non-epilepsy group. In Cohort 2, the incidence of epilepsy was 3.24 in patients with ADHD and 0.78 in those without ADHD (per 1000 person-years) after a median follow-up of 3–3.5 years and an HR of 3.94 (95% CI 2.58–6.03). Conclusion: This study shows a bidirectional association between ADHD and epilepsy in the 2 cohort studies. Causative factors may be common between these 2 disorders, leading to a cascade of transcriptional changes in the brain that alter behavior or cognition prior to seizures. [ABSTRACT FROM AUTHOR]

Abstract: Flower initiation and development of Kalanchoe spp. were investigated in this study. The sequence of events in the differentiation process was divided into 8 stages: vegetative growth, flower initiation, bract primordium, sepal primordium, petal primordium, stamen primordium, pistil primordium, and visible floret stages. Under the short-day condition, Kalanchoe spathulata, Kalanchoe blossfeldiana ‘Tenorio’, and Kalanchoe garambiensis meristems initiated differentiation after 5, 10, and 15 days, respectively. K. spathulata, K. garambiensis, and K. blossfeldiana ‘Tenorio’ differentiated from the vegetative stage into the visible flower bud stage in 45, 50, and 55 days, respectively. The development from flower initiation to the visible flower bud stage was most rapid in K. spathulata, followed by K. garambiensis and K. blossfeldiana ‘Tenorio’. Kalanchoe gracilis differentiated from the vegetative growth stage into the visible flower bud stage in 105 days. Therefore, K. spathulata and K. garambiensis exhibited flower characteristics relatively early. The main differences in flowering between species/cultivars were initiation timing and the time for subsequent development. The sepal primordial stage was the most sensitive stage to the short-day condition during flower development in Kalanchoe spp. The minimum number of short-days needed for flowering of K. spathulata, K. garambiensis, K. blossfeldiana ‘Tenorio’, and K. gracilis were 15, 15, 25, and 56 days, respectively. Therefore, K. spathulata or K. garambiensis can be used to produce hybrids in relatively fewer short-days. [Copyright &y& Elsevier]

The purpose of this study was to determine whether toll-like receptor 9 (TLR9) gene polymorphisms were markers of susceptibility to or severity of systemic lupus erythematosus (SLE) in Taiwanese patients. The study included 211 healthy individuals and 167 Chinese patients with SLE. Polymorphisms of TLR9 [rs2066807 and rs187084 (−1486 T/C)] were typed from genomic DNA. The genotypes, allelic frequencies, and carriage rates were compared between patients with SLE and control subjects. The relationship between allelic frequencies and clinical manifestations of 167 patients with SLE was evaluated. There was no statistically significant difference in TLR9 (rs2066807) gene polymorphism, allelic frequency, and carriage rate between the SLE and control groups. However, for the genotype of TLR9 −1486 T/C (rs187084) polymorphism, there was a statistically significant difference between the SLE and the control groups ( P < 0.001, χ = 15.9). Moreover, there was a significant association between the two groups in allelic frequency and carriage rate of the T allele ( P < 0.001, χ = 18.5 and P < 0.01, χ = 8.06, respectively). We did not detect any association between the TLR9 genotype and the clinical or laboratory profiles in patients with SLE. The results suggest that the TLR9 −1486 T/C (rs187084), but not TLR9 (rs2066807), polymorphism is related to SLE in Taiwanese patients. [ABSTRACT FROM AUTHOR]

Background: Interleukin 12B (IL12B) gene polymorphisms have been linked to several inflammatory diseases, but their role in the development of Graves ophthalmopathy (GO) in Graves disease (GD) patients is unclear. The purpose of this study was to investigate the disease association of IL12B single nucleotide polymorphisms (SNPs). Methods: A Taiwan Chinese population comprising 200 GD patients with GO and 271 GD patients without GO was genotyped using an allele-specific extension and ligation method. Hardy-Weinberg equilibrium was estimated using the chi-square test. Allele and genotype frequencies were compared between GD patients with and without GO using the chi-square test.Results: The genotype and allele frequencies of examined SNPs did not differ between GD patients with and without GO. Although the genotype distribution remained nonsignificant in the sex-stratified analyses, the frequency of the T allele at SNP rs1003199 was significantly higher in patients with GO in the male cohort (P = 6.00 × 10-3). In addition, haplotypes of IL12Bmay be used to predict the risk of GO (P = 1.70 × 10-2); however, we could not prove the statistical significance of analysis after applying the Bonferroni correction. Conclusions: Our results provide new information that the examined IL12B gene polymorphisms may be associated with susceptibility to GO in the Taiwan Chinese population in a sex-specific manner. This conclusion requires further investigation. [ABSTRACT FROM AUTHOR]

This study classifies the vegetation status to determine the factors affecting grassland succession retardation in the Juifang area. Data derived from Land Use Investigation of Taiwan, GIS techniques, multivariate analysis, and on-site investigation was applied in this research. Discriminant analysis shows that forests that have low human disturbance cannot be correctly identified and classified by the topography and soil depth. This indicates that the topography and soil depth in the Juifang area are not the limiting factors of forest growth. Grasslands are usually susceptible to periodic wildfires. This can be used as an environmental index for disturbed and/or polluted soils. Comparing the current vegetation status with the vegetation distribution derived from discriminant analysis, potential wildfire frequency can be estimated. Acid sulfate soils and copper-contaminated soils are the major polluted soils in the Juifang area. Because the Juifang area is an important coal field in northern Taiwan, acid sulfate can be easily found in the spoiled soils of several mining spots due to sulfur oxidation from the soil and/or rock layers dug out during mining operations. Copper-contaminated soils were detected at the sites near the Li-Lo Copper Refining Plant and Taiwan Metal Mining Company. Polluted soils and periodic wildfires inhibiting the invasion of trees are the major factors retarding the succession of grasslands in the Juifang area. [ABSTRACT FROM AUTHOR]

Background: Idiopathic membranous nephropathy (IMN) is one of the most common forms of autoimmune nephritic syndrome in adults. The purpose of this study is to evaluate whether polymorphisms of PLA2R1 affect the development of IMN. Methods: Taiwanese-Chinese individuals (129 patients with IMN and 106 healthy controls) were enrolled in this study. The selected single nucleotide polymorphisms (SNPs) in PLA2R1 were genotyped by real-time polymerase chain reaction using TaqMan fluorescent probes, and were further confirmed by polymerase chain reaction-restriction fragment length polymorphism. The roles of the SNPs in disease progression were analyzed. Results: Genotype distribution was significantly different between patients with IMN and controls for PLA2R1 SNP rs35771982 (p = 0.015). The frequency of G allele at rs35771982 was significantly higher in patients with IMN as compared with controls (p = 0.005). In addition, haplotypes of PLA2R1 may be used to predict the risk of IMN (p = 0.004). Haplotype H1 plays a role in an increased risk of IMN while haplotype H3 plays a protective role against this disease. None of these polymorphisms showed a significant and independent influence on the progression of IMN and the risk of end-stage renal failure and death (ESRF/death). High disease progression in patients having C/T genotype at rs6757188 and C/G genotype at rs35771982 were associated with a low rate of remission. Conclusions: Our results provide new evidence that genetic polymorphisms of PLA2R1 may be the underlying cause of IMN, and the polymorphisms revealed by this study warrant further investigation. [ABSTRACT FROM AUTHOR]

The objective of the study is to examine whether interleukin-10 (IL-10) promoter polymorphism is a marker of susceptibility of systemic lupus erythematosus (SLE) in Chinese patients in Taiwan. The study included 119 Chinese patients with SLE. One hundred unrelated healthy individuals living in central Taiwan served as control subjects. Each polymorphism was detected as a result of a polymerase chain reaction (PCR)-based restriction analysis. The PCR product length was determined to be 412 bp (CC) whereas two fragments of 236 and 176 bp were determined to be excisable lengths (AA). The relationship between the IL-10 gene polymorphism and clinical manifestations of SLE was evaluated. For the genotype and allelic frequency, there were statistically significant differences between the SLE patients and the normal control subjects ( p=0.007 and 0.003, respectively). But we did not detect any association of carriage rate of the IL-10 polymorphism and the normal control subjects ( p=0.077). Furthermore, we did not detect any association of IL-10 genotype with antinuclear antibody, malar rash, photosensitivity, discoid lupus, mucosal ulcer, arthritis, serositis, hematology, immunology, involvement of central nervous system, and renal disease involvement in the SLE patients. The significant relation of −627 IL-10 genotype and allelic frequency with SLE implies that the IL-10 gene polymorphism can serve as a candidate gene marker for further study in patients with SLE in Taiwan. [ABSTRACT FROM AUTHOR]

Abstract: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism, which is caused by mutation in copper-transporting ATPase (ATP7B). In the present study, we report a molecular diagnosis method to screen the WD chromosome in patients or in heterozygotic carriers in Taiwan. Exons 8, 11, 12, 13, 16, 17, and 18 of ATP7B are selected for the screening of mutations. The most common mutation, Arg778Leu or Arg778Gln, was first screened by PCR-RFLP then we combined single-stranded conformation polymorphism (SSCP) analysis followed by direct DNA sequencing on the DNA fragments with mobility shift on SSCP analysis. The diagnostic rate was compared with standard ATP7B whole gene sequencing analysis. Ten different mutations were identified among 29 WD patients; among them four were novel (Ala1168Pro, Thr1178Ala, Ala1193Pro, and Pro1273Gln). The false positive rates were tested against 100 normal individuals and listed as follows: exon 8: 5%; exon 11: 4%; exon 12: 6%; exon 13: 5%; exon 16: 5%; exon 17: 3%; exon 18: 4%. The Arg778Leu mutation exhibited the highest allelic frequency (43.1%). The detection rate of WD chromosomes is 65.52%, which is as sensitive as whole gene sequencing scanning. According to our results, WD chromosomes in Taiwan are predominantely located at exons 8, 11, 12, 13, 16, 17, and 18. The standard sequencing analysis on the entire gene is time consuming. We recommend screening these 7 exons first on those individuals who have a higher risk in having WD, before whole gene and promoter sequencing analysis in Taiwan. [Copyright &y& Elsevier]

The article presents the proceedings of the 15th International Conference on Oral Chelation in the Treatment of Thalassemia and Other Diseases in Taichung, Taiwan on April 22-26, 2005. It is estimated that around 250-300 delegates attended the conference. One of the major aims of the conference was to identify and discuss much information regarding the complications of the disease.

The aim of this study was to examine whether −627 interleukin-10 (IL-10) promoter polymorphism is a marker of susceptibility to or severity of rheumatoid arthritis (RA) in Chinese patients in Taiwan. The study included 198 Chinese patients with RA. One hundred unrelated healthy individuals living in central Taiwan served as the control subjects. The relationship between IL-10 gene polymorphism and clinical manifestations of RA was evaluated. For the genotype, allelic frequency, and carriage rate of IL-10 polymorphism, there were no statistically significant differences found between patients and controls. Furthermore, we did not detect any association of IL-10 genotype with rheumatoid factor (RF), extra-articular involvement, or bone erosion in the RA patients. The lack of association of −627 IL-10 gene polymorphism with RA and the clinical findings in our study implies that the IL-10 gene polymorphism cannot serve as a candidate gene marker for screening RA patients. [ABSTRACT FROM AUTHOR]

We investigated whether there is an association between polymorphism of the CYP17 gene and rheumatoid arthritis in Chinese patients in central Taiwan. Genomic DNA was extracted from the peripheral blood of 146 female and 47 male RA patients, as well as from 42 female and 59 male control subjects; restriction fragment length polymorphism (defined as the A1 and A2 alleles) was then determined. Clinical variables such as rheumatoid factor positivity, extra-articular manifestations, and joint erosion were also investigated for the RA patients. We found that more male RA patients had the A1 allele ( P=0.019) and fewer female RA patients the A2 allele than control subjects ( P=0.048). In male RA patients, A1 carriers showed more extra-articular manifestations ( P=0.048). In female patients, a significant decrease in A2 carriers mainly occurred in the later-onset age group ( P=0.024). This study suggests that the A2 allele may significantly decrease the overall risk of developing RA. In women, the protective effect of A2 mainly affects the older age group. In men, the clinical severity of RA may decrease in patients with the A2/A2 genotype. [ABSTRACT FROM AUTHOR]

The purpose of this study was to examine whether interleukin-1 beta (IL-1ß) promoter and exon 5 gene polymorphisms are markers of susceptibility or clinical manifestations in Taiwanese patients with gout. The study included 196 patients in addition to 103 unrelated healthy control subjects living in central Taiwan. From genomic DNA, polymorphisms of the gene for IL-1ß promoter and IL-1ß exon 5 were typed. Allelic frequencies were compared between the two groups, and the relationship between allelic frequencies and clinical manifestations of gout was evaluated. No significant differences were observed in the allelic frequencies of the IL-1ß promoter between patients with gout and healthy control subjects. Additionally, we did not detect any association of the IL-1ß promoter genotype with the clinical and laboratory profiles of gout patients. However, there was a significant difference between the two groups in terms of hypertriglyceridemia (P=0.0004, ?2=12.52, OR 7.14, 95%CI 0.012-0.22). There was also a significant difference in the genotype of IL-1ß exon 5 polymorphism between patients with and without hypertriglyceridemia. Results of the present study suggest that polymorphisms of the IL-1ß promoter and IL-1ß exon 5 are not related to gout patients in central Taiwan. [ABSTRACT FROM AUTHOR]

Objective: Severe acute respiratory syndrome (SARS) is caused by a new coronavirus. Genomic sequence analysis will provide the molecular epidemiology and help to develop vaccines. Methods: We developed a rapid method to amplify and sequence the whole SARS-CoV genome from clinical specimens. The technique employed one-step multiplex RT-PCR to amplify the whole SARS-CoV genome, and then nested PCR was performed to amplify a 2-kb region separately. The PCR products were sequenced. Results: We sequenced the genomes of SARS-CoV from 3 clinical specimens obtained in Taiwan. The sequences were similar to those reported by other groups, except that 17 single nucleotide variations and two 2-nucleotide deletions, and a 1-nucleotide deletion were found. All the variations in the clinical specimens did not alter the amino acid sequence. Of these 17 sequenced variants, two loci (positions 26203 and 27812) were segregated together as a specific genotype – T:T or C:C. Phylogenetic analysis showed two major clusters of SARS patients in Taiwan. Conclusion: We developed a very economical and rapid method to sequence the whole genome of SARS-CoV, which can avoid cultural influence. From our results, SARS patients in Taiwan may be infected from two different origins. Copyright © 2005 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Conclusion Patients who carry the T/T homozygote of CYP17 C/T gene polymorphism may have a higher risk of developing oral cancer. Objective Cancer of the oral cavity is the most commonly seen malignancy in Taiwan, and its rising incidence poses a formidable challenge to oncologists. The CYP17 gene encodes P450c17alpha, an enzyme involved in the metabolism of steroid hormones. Tumor necrosis factor-α (TNF-α) is one of the cytokines produced by macrophages, and its function has been postulated to play a role in cancer formation. We investigated whether polymorphisms of CYP17 and TNF-α genes are associated with oral cancer. Material and methods Polymorphisms of CYP17 and TNF-α genes were detected by polymerase chain reaction-based restriction analysis in 137 patients with oral cancer and 102 normal controls. Results The results for the CYP17 gene revealed a significant difference between oral cancer patients and normal controls ( p =0.0063), but there was no significant difference for the TNF-α gene ( p =0.4753). [ABSTRACT FROM AUTHOR]

The aim of this study was to compare the body figure and serum lipid profiles of aboriginal students living in rural side in Nantou and Chinese students living in Taichung City. METHODS: Body figure and blood lipid profile was examined in elementary school fifth grade aboriginal students in Nantou and Chinese students in Taichung City, aged 10-year-10-month old to 11-year-6-month old. RESULTS: In girls, aboriginal students in Nantou have higher body mass index (BMI) (20.7 vs. 17.83 kg/m2, p < 0.01) and percentage of overweight (46.43% vs. 21.28%, p < 0.05) than Chinese students in Taichung City. However, Chinese girls have higher levels of total cholesterol (175.17 vs. 150.36 mg/dL, p < 0.01), low-density lipoprotein cholesterol (104.31 vs. 92.78 mg/dL, p < 0.05), and high-density lipoprotein cholesterol (54.96 vs. 43.49 mg/dL, p < 0.01) than aboriginal girls. In boys, body height of Chinese students in Taichung city is significantly higher (144.37 vs. 139.71 cm, p < 0.01) than aboriginal students but other body figure and blood lipid profile have no significant difference. CONCLUSIONS: Our results suggest that in Taiwan BMI and blood lipid profile differ in female children by race and geographical location but this is not so for male children. [ABSTRACT FROM AUTHOR]

Background. Osteoporosis is a common disorder with a strong genetic component. Our aim was to evaluate the correlation of the vitamin D receptor Fok I start codon polymorphism to bone mineral density and the occurence of osteoporosis. Methods. We determined the vitamin D receptor Fok I start codon polymorphism using polymerase chain reaction-based restriction analysis in 163 postmenopausal women in Taiwan. The vitamin D receptor gene polymorphism was detected by the restriction enzyme Fok I, where the F allele indicated the absence of the cuttable site and the f allele its presence. We then related the genotypes to bone mineral density and the occurence of osteoporosis in these women. Results. The allelic frequencies for 163 postmenopausal women in Taiwan were 59.2% for F and 40.8% for f in Fok I restriction fragment length polymorphisms. The prevalence of each genotype in the study population was: 42.3% FF , 33.7% Ff and 24% ff . The three genotypic groups differed significantly in bone mineral density at the lumbar spine (P = 0.029). Bone mineral density was highest in the Ff group and lowest in the ff group at the lumbar spine and the femoral neck. The Fok I vitamin D receptor genotype showed a significant effect on the prevalence of osteoporosis in the subjects at the lumbar spine. That is, women with genotype ff had a 2.8 times greater risk for osteoporosis (P < 0.05), and those with genotype FF had a 0.8 times greater risk than women with genotype Ff . Conclusion. Our findings indicate that the vitamin D receptor Fok I start codon polymorphism is associated with reduced bone mineral density and predisposes women to osteoporosis at the lumbar spine. [ABSTRACT FROM AUTHOR]

Abstract Group A rotaviruses are a major cause of severe gastroenteritis in children under 4 years of age worldwide. Group A rotaviruses have been identified in many animal and bird species; they are antigenically complex, and multiple serotypes infect humans. Reassortant rotavirus vaccines are now available that confer protection against severe illness due to rotavirus serotypes G1–4. Before vaccines are introduced, it is necessary to establish their efficacy and to establish a baseline for future surveillance strategies. The purpose of the present review is to describe current knowledge of the diversity of rotavirus in Taiwan. The present review is based on the available published studies and data from China Medical College Hospital (Taiwan). In Taiwan, rotavirus has been detected year-round, with the epidemic peak swinging from November–December in 1984 to January–March in 1988–95 and then back to December–March in 1996–99. Most affected patients are under 2 years of age. Only group A rotavirus has been found. Neither group B nor group C rotavirus have been identified. G1 strains have been the predominant strains except for the year 1992–93, when G2 strains were prevalent. There has been no G4 strain detected in published studies. The electropherotype ‘baba’ has been observed every year. Five other electropherotypes have been sporadically found. Half of the strains that have been studied were genotype P[8] and their VP7 serotype was G1 or G3. All genotype P[4] strains have shown serotype G2. It is expected that the reassortant rotavirus vaccine will be effective in prevention of severe illness caused by rotavirus in Taiwan. [ABSTRACT FROM AUTHOR]

The role of genetics in Parkinson’s disease (PD), previously controversial, is now documented by several studies. A major breakthrough has been the discovery of two single-gene defects in familial PD. A single base pair change at position 209 from G to A (G209A) in the fourth exon of the α-synuclein gene has been identified in cases of autosomal dominant familial PD. Mutations in the Parkin gene can induce autosomal recessive juvenile parkinsonism. A polymorphism of R/W366 in the Parkin gene was found to be associated with a protective factor for sporadic PD. We surveyed the polymorphisms of the Parkin gene, including S/N167, R/W366 and V/L380, in 92 cases of sporadic PD and 98 nonaffected individuals in Taiwanese Chinese. The allele frequencies of these polymorphisms are not significantly different between PD and nonaffected controls. We conclude that polymorphisms of the Parkin gene, S/N167, R/W366, V/L380, are not genetic factors for sporadic PD among Chinese in Taiwan.Copyright © 2000 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Abstract beta-Thalassemia, a hematologic disorder characterized by the deficiency or the absence of beta-globin production, is the most widespread inherited disorder in the world; it is also common in Taiwan. We studied 38 patients in central Taiwan with beta-thalassemia major, using amplified created restriction site analysis for detection. On analysis, six different point mutations were found among 76 chromosomes, of which 32 chromosomes (42.1%) had a C to T substitution at nucleotide 654, 30 (40%) had frameshift codons 41/42 with four nucleotides (TCTT) deletion, 7 (9.2%) had an A to T substitution at codon 17, 3 (3.9%) had frameshift codons 71/72 (insertion of A), 2 (2.6%) had an A to G substitution at position -28, and 2 (2.6%) had frameshift codons 27/28 (insertion of C). The first two mutations accounted for 62 of the 76 beta-thalassemia mutations in this study. As to mutations in each individual with beta-thalassemia major, the incidence of compound heterozygotes of two different mutations was higher than that of homozygotes of a single mutation (60% vs 40%). Compound heterozygotes of C to T substitution at nucleotide 654 of IVS-2 and frameshift codons 41/42 with four-nucleotide deletion was the most common pattern of beta-thalassemia mutations in each individual (23.7%). Our results were unique compared with those from similar studies performed in southern China. Frequencies of beta-thalassemia mutations found in the current study were assessed and compared with frequencies found in previous studies conducted in northern and southern Taiwan. [ABSTRACT FROM AUTHOR]

Pediatric intracranial aneurysm rupture is rare, and is traditionally managed by surgical clipping. To the best of our knowledge, endovascular embolization of aneurysms in neonates has not previously been reported in Taiwan. We report a 9-day-old boy with intracranial aneurysms who underwent endovascular embolization, representing the youngest reported case in Taiwan. The 9-day-old boy presented with non-specific symptoms of irritable crying, seizure and respiratory distress. Computed tomography disclosed intraventricular hemorrhage, subarachnoid hemorrhage and focal intracranial hemorrhage around the right cerebellum. Subsequent computed tomographic angiography showed two sequential fusiform aneurysms, measuring 3 mm, located in the right side posterior inferior cerebellar artery (PICA). The patient underwent endovascular embolization because of the high risk of aneurysm re-rupture and the impossibility of surgical clipping due to the fusiform nature of the aneurysms. A postembolization angiogram revealed complete obliteration of the right distal PICA and proximal aneurysm. The distal PICA aneurysm was revascularized from the collateral circulation, but demonstrated a slow and delayed filling pattern. The patient''s condition remained stable over the following week, and he was discharged without anticonvulsant therapy. No significant developmental delay was noted at follow-up at when he was 3 months old. This case emphasizes the need for clinical practitioners to consider a diagnosis of intracranial hemorrhage in neonates with seizure and increased intracranial pressure. Neonatal intracranial aneurysms can be treated safely by endovascular treatment. [Copyright &y& Elsevier]

The article examines whether genetic variation in the rs314280 on 6q21 (near the height-related gene LIN28B) and rs2090409 on 9q31.2 (in an intergenic region) could serve as useful markers for predicting susceptibility to precocious puberty in a population of 117 Taiwanese girls. It reports that rs314280 and rs2090409 polymorphisms are not reliable predictors for the timing of puberty since the genotype proportions and allele frequencies for the two loci were not significantly different between the control group and the girls with precocious puberty.

Reports the identification and differentiation of the universal N540K mutations in Taiwanese hypochondroplasia patients. Details on the use of polymerase chain reaction-based natural and amplification created restriction sites in examining unrelated probands; Diagnosis of hypochondroplasia.

The 921 earthquake caused a catastrophic disaster in Central Taiwan. Ten years have passed since the earthquake occurred. Vegetation succession is the basis for establishing a restoration reference which plays an important role in vegetation restoration at landslide sites. Generally, growth conditions for grass are easier and the growth rate is faster than that for trees. Therefore, grass can be considered a pioneer species or an important reference for the early vegetation succession stage. This is the reason why grass is required to be extracted from other land covers. Integrating remote sensing, geographic information system and image classification into vegetation succession models is very important. In this study, the Markov chain model was applied for vegetation restoration assessment and discussion. Chiufenershan and Ninety-nine peaks were selected as the study areas. Five SPOT satellite images are used for land cover mapping and vegetation restoration simulations. Four categories of land covers were extracted, including forest, grass, bare land and water, respectively. From the transitive probability matrix (derived from any two land covers), the results show that vegetation restoration at the Chiufenershan and Ninety-nine peaks landslide areas is ongoing, but that has been disturbed by natural disasters. [Copyright &y& Elsevier]

Abstract: Background: Dravet syndrome (DS) is a rare form of intractable epilepsy. Children with DS often start having seizures in infancy, and gradually develop other seizure types. Several studies have demonstrated that certain gene mutations and submicroscopic copy number variations (CNV) in DS patients are strongly associated with intractable epilepsy. In this study, directed DNA sequencing and microarray technology were used to investigate genomic variations in DS patients. Methods: A total of nine DS patients were enrolled in this genetic study. A detailed medical history was obtained from each participant, and appropriate neurological examinations performed. Seizure types and epilepsy syndromes were classified according to ILAE criteria. The complete coding regions of SCN1A, SCN1B, SCN2A, GABRG2, and GABRD, including the intron/exon boundaries, were sequenced using DNA samples drawn from participants. In addition, whole genome CNV analysis was conducted via SNP microarray analysis. Results: DNA sequencing revealed a mutation in the SCN1A gene in five (55.6%) of the DS patients, within which three missense mutations, c.719T>C (p.Leu240Pro), c.2807A>T (p.Asp936Val), c.4349A>C (p.Gln1450Pro), and two frameshift mutations, c.2277insAACA (p.His759fsX772) and c.3972insT (p.Leu1324fsX1331) were observed. Upon CNV analysis, a novel duplication region, 4q13.1–q13.2, was detected in one DS patient; this variant region contained a gene, EPHA5, related to cerebral neuron development. Conclusion: This study extended the spectrum of SCN1A mutations in Taiwanese DS patients and confirms the high sensitivity of SCN1A for the DS phenotype. In addition, a novel duplication region identified within EPHA5 should be considered in future screening procedures for DS. [Copyright &y& Elsevier]

AbstractUremic patients with diabetes suffer from high levels of oxidative stress due to regular hemodialysis therapy (neutrophil activation induced by hemo-incompatibility between the hemodialyser and blood) and complications associated with diabetes. Several plasma biomarkers were screened in 13 uremic diabetic patients after receiving the mixture of (–)-epigallocatechin gallate (EGCG), a major component of green tea extract, and Amla extract (AE), from Emblica officinalis, the Indian gooseberry, for 3 months. We found that oral administration of a 1:1 mixture of EGCG and AE for 3 months significantly improved antioxidant defense as well as diabetic and atherogenic indices in uremic patients with diabetes. Furthermore, no significant changes in hepatic function, renal function, or inflammatory responses were observed. These results suggest that a 1:1 combination of EGCG and AE is a safe and effective treatment for uremic patients with diabetes. [ABSTRACT FROM AUTHOR]

Abstract: Background: The national hepatitis B (HB) vaccination program in Taiwan that began in 1984 has resulted in a significant reduction in the carrier rate among children. However, a significant proportion of Taiwanese neonatal HB immunization recipients have exhibited low anti-HBs titers that fall to non-protective or undetectable levels. Methods: We recruited 1677 entering freshman and graduate student participants at a Taiwanese university health center, grouped them into three age groups representing three stages of Taiwan''s HB vaccination program, then conducted hepatitis B surface antigen (HBsAg) and antibodies to HBsAg (anti-HBs) serological surveillances for each individual. Univariate and multivariate regression analyses of clinical characteristics and Interleukin-10 (IL-10) genetic variations were also conducted. Results: A trend toward a decreasing HBsAg carrier rate was observed over the starting dates of the vaccination program (11.7%, 1.6% and 1.7% for age groups 1, 2 and 3, respectively), but we also observed an increasing rate of non-protective anti-HBs titers (15%, 26% and 50.3% for cohorts 1–3, respectively). The percentage of students with non-protective anti-HBs titers increased from 23.1% for students born in 1984, to 25.2% for those born in 1985, to 39.4% for birth-year 1986 students, to 45.7% for birth-year 1987 students, and to 56.5% for birth-year 1988 students. The risk for low anti-HBs titers increased concurrently with increases in systolic blood pressure (BP), the IL-10 ATA/ACC haplotype, and the IL-10 ATA present haplotype. Risk for low anti-HBs titers decreased with concurrent decreases in glucose ante cibum (AC, before meals) and the IL-10 ACC/ACC haplotype. Conclusions: These results suggest that the genetic determinants may also contribute to variations in anti-HBs titers in immune responses to HB vaccination. [Copyright &y& Elsevier]

Abstract: Background: Membranous glomerulonephritis (MGN) is one of the most common causes of nephrotic syndrome in adults. NPHS1 encoding nephrin is a transmembrane protein of the immunoglobulin family. We clarified the relationship between NPHS1 gene polymorphisms and the susceptibility or progression of MGN. Methods: We recruited a cohort of 132 biopsy-diagnosed MGN patients and 257 healthy subjects. Genotyping of three SNPs (rs401824, rs437168 and rs3814995) at chromosome positions 41034749 (5′UTR), 41026259(exon17) and 41034052 (exon 3) was performed using a Taqman SNP genotyping assay. Results: There was a significant difference in genotype frequency distribution of rs437168 polymorphism between MGN patients and controls. The results also showed that the frequency of the G allele was significantly higher in the patient group. Among the polymorphisms rs437168, rs401824 and rs3814995, no significant haplotype was shown in MGN patients. A stratified analysis revealed that a high disease progression in the AA genotype of rs401824 and GG genotype of rs437168 patients were associated with a low rate of remission. Conclusions: The presence of the different genotypes of NPHS1 was associated with susceptibility of MGN and the remission of proteinuria during disease progression after the therapy. [Copyright &y& Elsevier]

Abstract: Interleukin-2 (IL-2), one of the crucial immunoregulatory cytokines required for T lymphocyte activation, plays an important role in autoimmune diseases. An IL-2 genetic G/T polymorphism (rs2069763) has been linked with multiple sclerosis and rheumatoid arthritis. We tested a hypothesis that this polymorphism confers systemic lupus erythematosus (SLE) susceptibility. Study participants were Han Chinese SLE patients and a healthy control group in Taiwan. Our results indicate (a) a significantly higher G allele frequency in SLE patients (P =1.91×10−14; OR=3.94; 95% CI=2.74–5.66), (b) a significantly higher G allele frequency in SLE patients with antinuclear antibodies (ANA) (P =0.033; OR=4.21; 95% CI=1.01–17.51) and (c) a significantly lower G allele frequency in SLE patients with discoid rash (P =0.019; OR=0.41; 95% CI=0.19–0.88). Our results suggest that this polymorphism may be involved in the genetic background of Taiwanese SLE. [Copyright &y& Elsevier]

Oxygen bubbles that leak from seagrass blades during photosynthesis have been hypothesized to cause cavitation sounds in aquatic plants. Here we investigate low-amplitude sounds with regular pulse rates produced during photosynthesis in seagrass beds of Halophila ovalis (Qitou Bay, Penghu islands and Cigu Lagoon, Taiwan). Sound pulses appear in the morning when illumination exceeds 10,000 Lux, peak at midday and decrease in midafternoon on a sunny day. Frequencies peak between 1 to 4 kHz, durations range between ca. 1.8 to 4.8 ms, and sound pressure level 1 cm from the bed is 105.4 ± 0.5 dB re 1 μPa (1100 h on a cloudy day). Sounds attenuate rapidly with distance, disappearing beyond 15 cm. Blocking sunlight or administering herbicide stops ongoing sounds. Gas bubbles are not typically seen during sound production ruling out cavitation, and external force (scissor cutting or plant pressed against the substrate) applied to the patch, leaves, petioles, or rhizomes generally increases pulse rate. We suggest sound emission is caused by internal oxygen transport through pores in diaphragms (a whistle mechanism) at the leaf base and nodes of the rhizome., Competing Interests: Richard G. Gilmore, Jr. is employed by Estuarine, Coastal and Ocean Science, Inc., Florida, U.S.A., (© 2024 Mok et al.)

Background: Height is an important anthropometric measurement and is associated with many health-related outcomes. Genome-wide association studies (GWASs) have identified hundreds of genetic loci associated with height, mainly in individuals of European ancestry., Methods: We performed genome-wide association analyses and replicated previously reported GWAS-determined single nucleotide polymorphisms (SNPs) in the Taiwanese Han population (Taiwan Biobank; n = 67,452). A genetic instrument composed of 251 SNPs was selected from our GWAS, based on height and replication results as the best-fit polygenic risk score (PRS), in accordance with the clumping and p-value threshold method. We also examined the association between genetically determined height (PRS 251 ) and measured height (phenotype). We performed observational (phenotype) and genetic PRS 251 association analyses of height and health-related outcomes., Results: GWAS identified 6843 SNPs in 89 genomic regions with genome-wide significance, including 18 novel loci. These were the most strongly associated genetic loci (EFEMP1, DIS3L2, ZBTB38, LCORL, HMGA1, CS, and GDF5) previously reported to play a role in height. There was a positive association between PRS 251 and measured height (p < 0.001). Of the 14 traits and 49 diseases analyzed, we observed significant associations of measured and genetically determined height with only eight traits (p < 0.05/[14 + 49]). Height was positively associated with body weight, waist circumference, and hip circumference but negatively associated with body mass index, waist-hip ratio, body fat, total cholesterol, and low-density lipoprotein cholesterol (p < 0.05/[14 + 49])., Conclusions: This study contributes to the understanding of the genetic features of height and health-related outcomes in individuals of Han Chinese ancestry in Taiwan., (© 2022. The Author(s).)

Objective,: To investigate the genetic characteristics of idiopathic central precocious puberty (ICPP) and validate its polygenic risk for early puberty., Design and Methods: A bootstrap subsampling and genome-wide association study were performed on Taiwanese Han Chinese girls comprising 321 ICPP patients and 148 controls. Using previous GWAS data on pubertal timing, a replication study was performed. A validation group was also investigated for the weighted polygenic risk score (wPRS) of the risk of early puberty., Results: A total of 105 SNPs for the risk of ICPP were identified, of which 22 yielded an area under the receiver operating characteristic curve of 0.713 for the risk of early puberty in the validation group. A replication study showed that 33 SNPs from previous GWAS data of pubertal timing were associated with the risk of ICPP (training group: P-value < 0.05). In the validation group, a cumulative effect was observed between the wPRS and the risk of early puberty in a dose-dependent manner (validation group: Cochran-Armitage trend test: P-value < 1.00E-04; wPRS quartile 2 (Q2) (odds ratio (OR) = 5.00, 95% CI: 1.55-16.16), and wPRS Q3 (OR = 11.67, 95% CI: 2.44-55.83))., Conclusions: This study reveals the ICPP genetic characteristics with 22 independent and 33 reported SNPs in the Han Chinese population from Taiwan. This study may contribute to understand the genetic features and underlying biological pathways that control pubertal timing and pathogenesis of ICPP and also to the identification of individuals with a potential genetic risk of early puberty.

Context: Human height is an inheritable, polygenic trait under complex and multilocus genetic regulation. Familial short stature (FSS; also called genetic short stature) is the most common type of short stature and is insufficiently known., Objective: To investigate the FSS genetic profile and develop a polygenic risk predisposition score for FSS risk prediction., Design and Setting: The FSS participant group of Han Chinese ancestry was diagnosed by pediatric endocrinologists in Taiwan., Patients and Interventions: The genetic profiles of 1163 participants with FSS were identified by using a bootstrapping subsampling and genome-wide association studies (GWAS) method., Main Outcome Measures: Genetic profile, polygenic risk predisposition score for risk prediction., Results: Ten novel genetic single nucleotide polymorphisms (SNPs) and 9 reported GWAS human height-related SNPs were identified for FSS risk. These 10 novel SNPs served as a polygenic risk predisposition score for FSS risk prediction (area under the curve: 0.940 in the testing group). This FSS polygenic risk predisposition score was also associated with the height reduction regression tendency in the general population., Conclusion: A polygenic risk predisposition score composed of 10 genetic SNPs is useful for FSS risk prediction and the height reduction tendency. Thus, it might contribute to FSS risk in the Han Chinese population from Taiwan., (© Endocrine Society 2020. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Aim: The present study evaluated the contribution of genotype of X-ray repair cross-complementing group 3 (XRCC3), age, gender, and smoking to lung cancer risk in Taiwan., Materials and Methods: A total of 358 patients with lung cancer and 716 controls were investigated for their XRCC3 rs1799794, rs45603942, rs861530, rs3212057, rs1799796, rs861539, rs28903081 genotype, epidemiological and clinical data for association and gene-Iifestyle interactions., Results: The results showed that CT and TT genotypes of XRCC3 rs861539 were associated with increased lung cancer risk (odds ratio=1.81, 95% confidence interval=1.18-2.78; odds ratio=3.43, 95% confidence interval=1.12-10.60, respectively). This polymorphism also influenced lung cancer susceptibility in males and smokers (p=0.0017 and 0.0045, respectively)., Conclusion: The T allele of XRCC3 rs861539 contributes to increased risk of lung cancer in Taiwanese, particularly those who are male and smokers., (Copyright© 2015 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.)

Interleukin-10 (IL-10) is an immunosuppressive cytokine involved in carcinogenesis via immune escape. The present study aimed at evaluating the contribution of IL-10 promoter A-1082G (rs1800896), T-819C (rs3021097), A-592C (rs1800872) genetic polymorphisms to the risk of lung cancer in Taiwan. Associations of three IL-10 polymorphic genotypes with lung cancer risk were investigated among 358 lung cancer patients and 716 age- and gender-matched healthy controls. In addition, the genetic-lifestyle interaction was also examined. The results showed that the percentages of TT, TC and CC for IL-10 T-819C genotypes were differentially represented as 59.2%, 35.8% and 5.0% in the lung-cancer patient group and 52.0%, 37.0% and 11.0% in the non-cancer control group, respectively (p for trend=0.0025). The CC genotype carriers were of lower risk for lung cancer (OR=0.4, 95% CI=0.23-0.69, p=0.0005). Further stratification of the population by gender and smoking behavior showed that the IL-10 T-819C genotype conducted a protective effect on lung cancer susceptibility, which was obvious among males and smokers (p=0.0003 and 0.0004, respectively). The CC and TC genotypes of IL-10 T-819C compared to the TT genotype may have a protective effect on lung cancer risk in Taiwan, particularly among males and smokers., (Copyright© 2014 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.)

Aim: The present study aimed to evaluate the contribution of X-ray repair cross-complementing group 7 (XRCC7) G6721T (rs7003908) genetic polymorphism and smoking habit on the risk of lung cancer in Taiwanese., Materials and Methods: In this hospital-based case-control study, association of single nucleotide polymorphism XRCC7 G6721T with lung cancer risk were examined among 358 patients with lung cancer and 716 age- and gender-matched healthy controls. The genetic-lifestyle interaction was also investigated., Results: The results showed that the percentages of TT, GT and GG genotypes for XRCC7 G6721T were differentially distributed as 60.9%, 34.9% and 4.2% in the group of patients with lung cancer and 48.7%, 43.3% and 8.0% in the non-cancer control group, respectively (p=3.6*10(-7)). We further stratified the populations by gender and smoking behavior to investigate their combinatorial effects with XRCC7 G6721T genotype on lung cancer risk. The results showed that the GG genotype of XRCC7 G6721T had a protective effect on lung cancer susceptibility which was obvious among males and smokers (p=2.2×10(-4) and 3.1×10(-4), respectively)., Conclusion: The GG and GT genotypes of XRCC7 rs7003908 compared to the TT genotype had a protective effect on lung cancer risk in Taiwan, particularly among males and smokers., (Copyright© 2014 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.)

Overexpression of cyclooxygenase 2 (COX-2) has been suggested to be associated with breast carcinogenesis. The aim of the present study was to evaluate the contribution of genotypic polymorphisms in COX-2 to breast cancer risk of Taiwanese females. In total, 1,232 breast cancer patients and 1,232 healthy controls were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methodology. Six polymorphic variants of COX-2, including G-1195A (rs689466), G-765C (rs20417), T8473C (rs5275), intron 1 (rs2745557), intron 5 (rs16825748) and intron 6 (rs2066826) were examined. The results showed that the GC genotype of COX-2, G-765C was associated with a lower risk compared to the wild-type GG genotype (odds ratio(OR)=0.66, 95% confidence interval(CI)=0.53-0.83, p=0.0005). The C allele of COX-2 G-765C was significantly more frequently found in controls than in cancer patients (p=0.0006). In addition, the OR of the GG/AG+AA, GC/GG and GC/AG+AA at G-765C/Intron 1 combined genotypes compared to wild-type GG/GG genotype were 0.79 (95%CI=0.66-0.96; p=0.0166), 0.61 (95%CI=0.48-0.78; p=0.0001), and 0.71 (95%CI=0.36-1.37; p=0.3040), respectively. As for the combination of G-765C and intron 6, the OR of the GG/AG+AA, GC/GG and GC/AG+AA combined genotypes compared with wild-type GG/GG reference genotype were 0.79 (95%CI=0.62-1.01; p=0.0561), 0.63 (95%CI=0.50-0.81; p=0.0003), and 0.68 (95%CI=0.38-1.21; p=0.1897), respectively. Our results indicate that the C allele of COX-2, G-765C was associated with a decreased risk of breast cancer in Taiwan, and could serve as an early detection and predictive marker for breast cancer risk., (Copyright© 2014 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.)

Aim: Bladder cancer is the sixth most common cancer worldwide and its incidence is particularly high in southwestern Taiwan. However, the genetic contribution to its etiology is not well-understood. The aim of this study is to evaluate the association of cyclooxygenase 2 (Cox-2) polymorphic genotypes with Taiwan bladder cancer patients., Materials and Methods: Six polymorphic variants of Cox-2 were analyzed regarding their association with bladder cancer risk, and three hundred and seventy-five patients with bladder cancer and same amount of age- and gender-matched healthy controls recruited were genotyped by the PCR-RFLP method., Results: Among the six polymorphic sites examined, only the Cox-2 promoter G-765C (rs20417) genotypes were positively associated with bladder cancer risk (p=0.0102). Individuals with the Cox-2 -765GC genotypes were associated with higher prostate cancer risk than those with -765GG., Conclusion: Our findings provide evidence that the C allele of Cox-2 promoter G-765C may be associated with the overexpression of COX-2 during bladder cancer development and may be a useful marker for the early detection of bladder cancer.

Aim: Upper urothelial tract cancer is unusually of high incidence in Taiwan and it is valuable to study the specificity of this disease in Taiwan and compare the corresponding findings with those of Western countries. In the literature, it has been reported that single nucleotide variation of caveolin-1 gene (CAV1) plays an important role in risk of several types of cancer, such as hepatoma, leukemia, nasopharyngeal carcinoma, oral, breast, bladder and prostate cancer, but we are not aware of any reports on upper urothelial tract cancer. The aim of this study was to evaluate the association of six polymorphic genotypes of CAV1 with upper urothelial tract cancer within a Taiwanese population., Materials and Methods: A total of 218 patients with upper urothelial tract cancer and 580 healthy controls in central Taiwan were genotyped by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) for six CAV1 polymorphic genotypes, C521A (rs1997623), G14713A (rs3807987), G21985A (rs12672038), T28608A (rs3757733), T29107A (rs7804372), and G32124A (rs3807992), and their association with upper urothelial tract cancer susceptibility was examined., Results: The distribution of genotypes of CAV1 rs3807987 and rs7804372 were significantly different between cancer patient and control groups (p=0.0188 and 0.0090, respectively), while those for CAV1 rs1997623, rs12672038, rs3757733 and rs3807992 were not significant (p>0.05). The haplotype analysis of the two polymorphic genotypes showed that compared with the GG/AT, and GG/AA haplotypes of CAV1 rs3807987/rs7804372, those carrying GG/TT, AG/TT and AA/TT variants have a significantly increased risk of upper urothelial tract cancer (odds ratio=1.61, 1.50 and 2.67, 95% confidence interval=1.05-2.47, 1.18-1.90, and 1.37-5.18, respectively). On the contrary, other haplotype variants conferred non-significant elevated risk., Conclusion: Our results suggest that individual and combined CAV1 rs3807987/rs7804372 genotypes are involved in predisposition to upper urothelial tract cancer in the Taiwanese population.

Aim: The study aimed to evaluate the association and interaction of ataxia telangiectasia mutated (ATM) genetic polymorphisms with lung cancer risk in Taiwan, where lung cancer is the primary cause of cancer-related death., Materials and Methods: In this hospital-based matched case-control study, associations of up to seven ATM single nucleotide polymorphisms (rs600931, rs652311, rs227060, rs228589, rs227092, rs624366 and rs189037) with lung cancer risk were investigated among Taiwanese. In this study, 358 lung cancer patients and 716 age- and gender-matched healthy controls were genotyped and the genetic-lifestyle interaction were analyzed., Results: The results showed that the percentages of GG, AG and AA for ATM rs652311 genotypes were significantly different at 34.6%, 48.9% and 16.5% in the lung cancer patient group and 39.9%, 51.0% and 9.1% in non-cancer control group, respectively. We further analyzed the genetic-lifestyle effects on lung cancer risk and found that the contribution of ATM rs652311 A allele-bearing genotypes to lung cancer susceptibility was enhanced in the cigarette smokers and not enhanced in the non-smokers (p=0.0045 and 0.2758, respectively)., Conclusion: Our results provide evidence that the A allele of ATM rs652311 may be associated with lung cancer risk, and may enhance the effects of smoking habit on lung cancer development.

Background: Interleukin 12B (IL12B) gene polymorphisms have been linked to several inflammatory diseases, but their role in the development of Graves ophthalmopathy (GO) in Graves disease (GD) patients is unclear. The purpose of this study was to investigate the disease association of IL12B single nucleotide polymorphisms (SNPs)., Methods: A Taiwan Chinese population comprising 200 GD patients with GO and 271 GD patients without GO was genotyped using an allele-specific extension and ligation method. Hardy-Weinberg equilibrium was estimated using the chi-square test. Allele and genotype frequencies were compared between GD patients with and without GO using the chi-square test., Results: The genotype and allele frequencies of examined SNPs did not differ between GD patients with and without GO. Although the genotype distribution remained nonsignificant in the sex-stratified analyses, the frequency of the T allele at SNP rs1003199 was significantly higher in patients with GO in the male cohort (P = 6.00 × 10(-3)). In addition, haplotypes of IL12B may be used to predict the risk of GO (P = 1.70 × 10(-2)); however, we could not prove the statistical significance of analysis after applying the Bonferroni correction., Conclusions: Our results provide new information that the examined IL12B gene polymorphisms may be associated with susceptibility to GO in the Taiwan Chinese population in a sex-specific manner. This conclusion requires further investigation.

Rheumatoid arthritis (RA) is a chronic autoimmune disease and can lead to deformities and severe disabilities, due to irreversible damage of tendons, joints, and bones. Previous study indicated that DNA repair system was involved in the pathology of RA. In this study, we investigated the association of two 8-oxoguanine glycosylase 1 (OGG1) gene polymorphisms (rs159153 and rs3219008) with the susceptibility to RA in 384 Taiwanese individuals (192 patients with RA and 192 controls). Our data showed that statistically significant difference in genotype frequency distributions was found at rs3219008 SNP between patients with RA and control groups (P = 5.6E-0.5). Our data also indicated that individuals with the AG genotype at rs3219008 SNP may have a higher risk of developing RA. We did not observe any statistically significant association of OGG1 haplotype frequencies (rs159153 and rs3219008) with RA progression. The study suggested that OGG1 polymorphisms (rs159153 and rs3219008) are associated with RA progression and that these may be used as molecular markers of RA.

This study examines whether or not MBD4 polymorphism is a marker for rheumatoid arthritis (RA) susceptibility or severity for Chinese patients in Taiwan. This study included 193 patients with RA, while 190 unrelated healthy individuals living in Central Taiwan served as controls. The relationship between MBD4 polymorphism and clinical manifestations of RA was evaluated. For the genotype and allelic frequency of MBD4-1057 polymorphism, there were no statistically significant differences between patients with RA and controls. There were significant differences in the distribution of MBD4-8666 polymorphism frequencies between patients with RA and controls [P = 0.013; P (corrected) (Pc) = 0.039]. There were also significant relationships in the distribution of MBD4-9229 polymorphism genotype between patients with RA and controls (P = 0.007; Pc = 0.021). However, we did not detect any associations for MBD4-1057, MBD4-8666 or MBD4-9229 with rheumatoid factor presence, extra-articular involvement or bone erosion in patients with RA. Results suggest that MBD4-8666 and MBD4-9229, but not MBD4-1057, gene polymorphisms are related to RA in Chinese patients in Taiwan.

Purpose: Schizophrenia and epilepsy may share a mutual susceptibility. This study examined the bidirectional relation between the two disorders., Methods: We used claims data obtained from the Taiwan National Health Insurance database to conduct retrospective cohort analyses. Analysis 1 compared 5,195 patients with incident schizophrenia diagnosed in 1999-2008 with 20,776 controls without the disease randomly selected during the same period, frequency matched with sex and age. Analysis 2 comprised a similar method to compare 11,527 patients with newly diagnosed epilepsy with 46,032 randomly selected sex- and age-matched controls. At the end of 2008, analysis 1 measured the incidence and risk of developing epilepsy and analysis 2 measured the incidence and risk of developing schizophrenia., Key Findings: In analysis 1, the incidence of epilepsy was higher in the schizophrenia cohort than in the nonschizophrenia cohort (6.99 vs. 1.19 per 1,000 person-years) with an adjusted hazard ratio (aHR) of 5.88 [95% confidence interval (CI) 4.71-7.36] for schizophrenia patients. In analysis 2, the incidence of schizophrenia was higher in the epilepsy cohort than in the nonepilepsy comparison cohort (3.53 vs. 0.46 per 1,000 person-years) with an aHR of 7.65 (95% CI 6.04-9.69) for epilepsy patients. The effect of schizophrenia on subsequent epilepsy was greater for women, but the association between epilepsy and elevated incidence of schizophrenia was more pronounced in men., Significance: We found a strong bidirectional relation between schizophrenia and epilepsy. These two conditions may share common causes. Further studies on the mechanism are required., (Wiley Periodicals, Inc. © 2011 International League Against Epilepsy.)

Background: The timing of puberty has a genetic component. Recently, genome-wide association studies have identified that rs314280 on 6q21 (near the LIN28B gene) and rs2090409 on 9q31.2 (in an intergenic region) are associated with age at menarche. In this study, we aimed to determine whether the two loci were associated with the timing of puberty in Taiwanese girls., Results: A total of 117 girls were divided into two groups: (1) precocious puberty (n=50) and (2) normal control subjects (n=45). The genotype proportions and allele frequencies in both groups were not significantly different., Conclusion: These data suggest that rs314280 and rs2090409 polymorphisms are not a useful marker for prediction of the susceptibility of precocious puberty.

Purpose: To evaluate whether variations in the IL1B gene could be associated with Graves' ophthalmopathy (GO) in patients with Graves' disease (GD)., Method: This case-control study included 471 Taiwan Chinese patients with GD (200 with GO and 271 without GO) and 160 healthy volunteers. Eight single-nucleotide polymorphisms (SNPs) in IL1B were genotyped with an allele-specific extension and ligation assay., Results: In the IL1B SNPs examined, the C allele of rs1143634 was associated with GD, whereas the T/T genotype of the SNPs rs1143634 and rs16944 were less associated with the disease. The A/A genotype of the SNPs rs3917368 and rs1143643, which had the strongest interaction, may increase the risk of GO (P = 0.024 and P = 0.017, respectively). Several GD susceptibility and insusceptibility IL1B haplotypes have been identified, and the Ht4-GCGCCTCC haplotype, composed of eight SNPs and associated with low circulating IL1β levels, may be protective against the development of GO (P = 0.025). Moreover, that the GO-susceptible genotype was associated with lower plasma IL1β concentrations implies that the origin of GO may go beyond the IL1B polymorphism-associated elevation of circulating IL1β., Conclusions: The data for IL1B polymorphisms and the association of GD and GO with plasma IL1β levels show that IL1B polymorphisms may be associated with the development of GD and GO.

Purpose: The purpose of this study was to investigate tumor necrosis factor-α gene polymorphisms in unrelated Taiwan Chinese patients with wet age-related macular degeneration (AMD) and controls., Methods: In this retrospective case-control study, we enrolled 190 wet AMD patients and 180 age- and gender-matched controls. Genomic DNA was extracted from the peripheral blood obtained from wet AMD patients and control subjects. Polymerase chain reaction was performed to analyze 6 candidate single nucleotide polymorphisms in the tumor necrosis factor-α gene: -238 G/A, -308 G/A, +489 G/A, -857 C/T, -863 C/A, and -1031 T/C., Results: Among the 6 candidate single nucleotide polymorphisms of the tumor necrosis factor-α gene, only -1031 T/C was significantly associated with wet AMD. The distribution of the -1031 T/C genotypes was significantly different between wet AMD patients (homozygous T [TT], 64%; TC heterozygous [TC], 36%; homozygous C [CC] 0%) and controls (TT, 66%; TC, 28%; CC, 7%; P = 7 × 10⁻⁴). The genotype CC of -1031 T/C was significantly lower than that in controls (0 vs. 7%, P = 1.45 × 10⁻⁴, odds ratio = 14.70, 95% confidence interval = 1.90-33.59). No single haplotype was found to be significantly associated with either wet AMD patients or controls., Conclusion: Our data indicate that the tumor necrosis factor-α -1031 T/C polymorphism may be associated with wet AMD in the Taiwan Chinese population.