East Chinese Population Research Articles

Associations between fucosyltransferase 3 gene polymorphisms and ankylosing spondylitis: A case–control study of an east Chinese population

Many susceptibility genes of inflammatory bowel disease (IBD) are associated with ankylosing spondylitis (AS). Fucosyltransferase 2 (FUT2) and FUT3 genes are related to IBD. This study aimed to investigate whether these genes correlated with the susceptibility to AS. Questionnaires of 673 patients with AS, and peripheral blood specimens of the patients and 687 healthy controls were collected. FUT2 and FUT3 genes were genotyped using the SNPscan method. Frequency differences of the genes at different levels, haplotypes, and interactions were analyzed. No frequency differences were found between the cases and the controls in all the genotypes and the alleles of rs1047781, rs1800028, rs1800030, and rs812936. For rs28362459, a significant difference in allele frequencies was observed in the total participants between the groups [χ2 = 7.515, Pcorrected = 0.030; adjusted odds ratio (ORadjusted)G/T = 0.782; 95% confidence interval (CI), 0.650–0.941]. The frequencies of haplotypes TT (rs812936–rs28362459) (χ2 = 5.663, Ppermutation = 0.039) and TG (rs812936–rs28362459) (χ2 = 7.456, Ppermutation = 0.013) in the total participants, and TG (rs812936–rs28362459) in the female subgroup (χ2 = 5.624, Ppermutation = 0.047) showed significant differences between the cases and the controls. No frequency differences at the phenotypic level were found. Two-factor interactions were observed between rs28362459-TG and age, rs28362459-TG and sex, rs28362459 and rs1047781, and the Lewis and secretor status. Rs28362459-G was related to some aggravated symptoms of AS (all Pcorrected < 0.05). These findings indicated that FUT3 polymorphisms were associated with human predisposition to AS at the allele and haplotype level. Rs28362459-G might decrease the susceptibility to AS, but aggravate relevant symptoms.

Prevalence and risk factors for myopia in older adult east Chinese population

BackgroundTo determine the prevalence and associated factors for myopia and high myopia among older population in a rural community in Eastern China.MethodsA community-based, cross-sectional survey was conducted in the Weitang town located in Suzhou, an urban metropolis in East China. A total of 5613 Chinese residents aged 60 years and older were invited to complete a questionnaire and participated in a detailed eye examination,including measurements of visual acuity and refractive error using autorefraction and subjective refraction. Myopia and high myopia was defined as SE < −0.5 diopters (D) and < −5.0 D, respectively.ResultsAmong the 5613 participating individuals, 4795 (85.4%) complete refraction data of phakic right eye was included for analysis. The age-adjusted prevalence was 21.1% (95% confidence interval [CI], 19.9-22.2) for myopia and 2.5% (95% CI, 2.1-2.9) for high myopia. The prevalence of myopia tended to increase significantly with age(p < 0.001),and women had a higher rate of myopia than men (p < 0.001). According to multivariate logistic regression analysis, adults who were older (odds ration[OR]:1.05; 95% CI:1.04-1.07), spent more time for sleeping at night (OR:1.12;95% CI: 1.06-1.18),or had cataract (OR:1.60;95% CI:1.36-1.88) and family history of myopia (OR:1.47;95% CI:1.23-1.77), are more susceptible to myopia (p < 0.001). People who had older age, family history, cataract and specially longer night-time sleep duration, would have a higher risk of myopia.ConclusionMyopia and high myopia among rural old adult population in Eastern China presents common. The current literature unanticipated suggests that there was a positive significant association between prevalence of myopia and night-time sleep duration among adult. Our data provide some evidence of this relationship and highlight the need for larger studies to further investigate this relationship longitudinally and explore mechanism therein.

Transcription Factor 21 (TCF21) rs12190287 Polymorphism is Associated with Osteosarcoma Risk and Outcomes in East Chinese Population.

BackgroundThe transcription factor 21 (TCF21) gene is believed to be a tumor suppressor gene. TCF21 gene polymorphisms were found to play a role in the tumorigenesis of some solid malignancies. We raised a hypothesis that genetic polymorphisms of TCF21 were correlated with risk and prognosis of osteosarcoma.Material/MethodsWe recruited 225 young osteosarcoma individuals and 250 cancer-free controls. Five tagging SNPs (TCF21 rs2327429 T>C, rs2327433 A>G, rs2327433 A>G, rs12190287 C>G, and rs4896011 T>A) were genotyped. Preserved DNA samples from blood underwent PCR analysis for genotyping.Resultsrs12190287 C>G is a good predictor of osteosarcoma risk and outcomes. The CG and GG genotypes of rs12190287 predict elevated risk of osteosarcoma. Besides, rs12190287 CG and GG genotypes are associated with Enneking stage and potential in forming metastasis of osteosarcoma.ConclusionsGenetic polymorphisms of TCF21 are potentially predictive for osteosarcoma risk and outcomes.

Ras-Association Domain Family 1 Isoform A (RASSF1A) Gene Polymorphism rs1989839 is Associated with Risk and Metastatic Potential of Osteosarcoma in Young Chinese Individuals: A Multi-Center, Case-Control Study.

BackgroundThe ras-association domain family 1 isoform A (RASSF1A) gene serves as a bona fide tumor suppressor gene. The polymorphisms in RASSF1A were previously reported to be associated with the risk of solid malignant tumors. We hypothesized herein that RASSF1A gene polymorphisms are involved in the risk and prognosis of osteosarcoma (OS).Material/MethodsWe recruited 279 young OS cases and 286 tumor-free controls from the east Chinese population. Five tagSNPs of RASSF1A gene (rs2236947A/C, rs2073497A/C, rs1989839C/T, rs72932987C/T, and rs4688728G/T) were genotyped. DNA was isolated from blood samples and then underwent PCR analysis for genotyping.Resultsrs1989839C/T is an important predictor of osteosarcoma risk and outcome. The CT genotype of rs1989839 is highly related to elevated risk of osteosarcoma. Furthermore, rs1989839C/T is also associated with the Enneking stage of osteosarcoma and risk of lung metastasis. One of the other 4 SNPs, rs2236947A/C, shows a borderline significance in predicting osteosarcoma risk.ConclusionsOur study is the first to prove that RASSF1A gene polymorphisms may potentially be predictive for osteosarcoma risk and prognosis.

Association of polymorphisms in WWOX gene with risk and outcome of osteosarcoma in a sample of the young Chinese population.

The WW domain-containing oxidoreductase (WWOX) gene is a tumor suppressor gene, the abnormal expression of which will lead to osteosarcoma tumorigenesis. Polymorphisms of the WWOX gene are associated with the risk of several malignancies. We hypothesized that genetic variations in the WWOX gene were related to osteosarcoma risk and outcome. In this case-control study, we recruited 276 young osteosarcoma patients and 286 controls from the East Chinese population and genotyped seven tag single-nucleotide polymorphisms (SNPs) of the WWOX gene (rs10220974C>T, rs12918952G>A, rs3764340C>G, rs1074963C>G, rs383362G>T, rs1424110A>G, and rs12828A>G). We discovered that two SNPs (rs3764340C>G and rs383362G>T) were associated with osteosarcoma risk. The CG genotype and dominant model of rs3764340 indicated elevated risk of osteosarcoma, and similar results were found for rs383362. Furthermore, rs3754340C>G was also related to grade and metastasis risk of osteosarcoma. Taken together, our results provide the first evidence that WWOX gene polymorphisms have the potential to be predictive factors for assessing risk and outcome of osteosarcoma.

New risk-scoring system including non-alcoholic fatty liver disease for predicting incident type 2 diabetes in East China: Shanghai Baosteel Cohort.

The present study aimed to explore the incidence of type 2 diabetes, and to develop a risk-scoring model for predicting diabetes among the adult health check-up population in East China. Participants from the Shanghai Baosteel Cohort (age ≥20 years) without diabetes at baseline were recruited in a 6-year follow-up study. In order to explore risk factors for diabetes, this cohort was categorized into two groups: new diabetes and no diabetes. Three models were developed by Cox regression analysis. The model accuracy was assessed using the area under the receiver operating characteristic curve. A total of 6,542 individuals were included in the Shanghai Baosteel Cohort Study. Of them, 368 (5.6%) developed type 2 diabetes at the end of the follow-up period. Cox regression analysis found a close association between incident type 2 diabetes and several risk factors including non-alcoholic fatty liver diseases at baseline. The Shanghai Baosteel Score including advanced age (2 points), hypertriglyceridemia (2 points), obesity (2 points), non-alcoholic fatty liver diseases (2 points) and impaired fasting glucose (3 points) had a good diagnostic performance with estimated area under the receiver operating characteristic curve (0.724), sensitivity (57.9%) and specificity (72.2%) at a cut-off point of >3. A risk-scoring system including non-alcoholic fatty liver diseases can help identify individuals at a high risk of diabetes in the East Chinese population.

Age‐ and gender‐specific prevalence of carotid atherosclerosis and its association with metabolic syndrome in Hangzhou, China

Because of rapid alterations in lifestyle and the incidence of metabolic syndrome (MetS), the prevalence of carotid atherosclerosis (CA) and carotid plaque (CP) may increase in China. We aimed to evaluate the prevalence of CA and CP as well as its relation to MetS in an East Chinese population. The study included 6142 subjects who underwent general health screening including carotid ultrasonography in 2009. Diagnoses of MetS were made according to the revised Adult Treatment Panel III criteria. The prevalence of CA and CP increased gradually with age. These conditions were more prevalent in men than in women (CA: 22.1%vs 12.0%, P < 0.001; CP: 12.6%vs 7.2%, P < 0.001). Multivariate logistic regression analysis showed that male gender, age, blood pressure, fasting blood glucose (FBG) and low-density lipoprotein cholesterol were risk factors for CA and CP, while high-density lipoprotein cholesterol was protective for CA. Age ≥ 50 years has the largest impact on CA and CP, followed by elevated blood pressure and elevated blood glucose. Individuals with MetS had a higher prevalence of CA (27.7%vs 20.0% in men, 24.0%vs 10.3% in women; P < 0.001 in both) and CP (16.6%vs 11.2% in men, P < 0.001; 11.8%vs 6.5% in women, P < 0.005) than those without MetS. The prevalence and odds ratios of CA and CP aggregated with an increasing number of MetS components, even in individuals exhibiting only one component. These results indicate that CA and CP have become a major public health problem in China. MetS and its components were associated with an increased prevalence of CA and CP.