The contribution of GIGYF2 to Parkinson's disease: a meta-analysis.

The contribution of the gene of GIGYF2, Grb10-Interacting GYF Protein 2, to Parkinson's disease (PD) is still ambiguous. To explore the contribution of GIGYF2 to PD at the genetic level, we analyzed the relationship between all reported GIGYF2 variants (including mutations and polymorphisms) and PD through a meta-analysis. Databases including Medline, Embase, etc., were searched to find relevant studies. All eligible publications have to meet the strict inclusion and exclusion criteria listed. Two authors independently selected trials, assessed the article's quality and extracted data. Odds ratios (ORs) and relative risks with 95 % confidence intervals (CIs) were used to evaluate the strength of associations. All analyses were carried out by using the Review Manager software package v.5.2. More than 100 variants of GIGYF2 were reported either or both in patients and controls in 10 included publications. The 10 publications totally included 5466 patients and 6517 controls. We conducted meta-analyses for the following variants: N56S, N457T, Del LPQQQQQQ 1209-1216, Del Q 1210 (rs10555297), rs12328151, rs2289912, rs2305138, rs3816334, A572A and H1171R. The ORs for N56S were 2.86 (95 % CI 1.10, 7.41) for PD and 4.75 (95 % CI 1.35, 16.68) for FPD. And the OR for N457T in FPD was 4.53 (95 % CI 1.04, 19.66). On the other hand, other variants involved in meta-analyses were not related to PD. This research results suggest that the N56S and N457T of GIGYF2 are risk factors for PD in Caucasians, but not in Asians.

Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population.

An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson's disease (PD) has been reported in several populations. We searched for four common GBA mutations (L444P, F213I, R353W, and N370S) in 402 Chinese PD patients and 413 age- and sex-matched controls. In the PD cohort, 11 patients were found carrying a heterozygous GBA mutation and all of them had the L444P mutation. Heterozygous GBA mutations were detected none in controls. The GBA gene L444P mutation was detected at a significantly higher frequency among PD patients (11/402 = 2.74%), when compared with the control group (0/413): P = 0.0007. To evaluate the possible role of the GBA gene L444P mutation in PD in Ashkenazi Jewish and non-Jewish populations, we conducted a meta-analysis on the topic. In the Chinese population, the GBA gene L444P mutation was detected at a significantly higher frequency among PD patients, when compared with the control group: Z = 3.83, P = 0.0001, OR = 8.42, confidence interval = 95%, 2.83-25.06. In the non-Jewish populations, the difference was obviously significant: Z = 5.76, P < 0.00001, OR = 8.82, confidence interval = 95%, 4.21-18.48. The results suggest that the GBA gene L444P mutation appears to be a risk factor for PD in Chinese population.

Short-term entecavir therapy of chronic severe hepatitis B.

BACKGROUND: Chronic severe hepatitis B patients often have limited survival. This investigation aimed to evaluate the short-term effects of nucleoside analog therapy on chronic severe hepatitis B. METHODS: We retrospectively, randomly collected the data of 129 chronic severe hepatitis B patients: 55 were treated with entecavir, and the remaining 74 were not treated with nucleoside analogues. RESULTS: No significant difference in short-term survival rate was found between the group treated with entecavir and that treated without nucleoside analogues. Although entecavir greatly reduced HBV replication in different periods of therapy (P<0.001), the model for end-stage liver disease (MELD) score and liver function (alanine aminotransferase, albumin, bilirubin, prothrombin time) showed no significant change. No significant differences were found in MELD scores and liver function in patients with different HBV DNA levels (< or =10(4) copies/ml, >10(4) to <10(6) copies/ml, > or =10(6) copies/ml). Nor correlation was observed between HBV DNA levels and MELD scores in different periods of therapy (P>0.05). The HBV DNA levels of patients who survived for over 3 months or less than 3 months were not significantly different either. However, the MELD score and parameters of liver function (albumin, bilirubin, prothrombin time) were different between the two groups (P<0.05). CONCLUSION: These results suggest that short-term suppression of HBV replication may not slow down the progression of liver failure in patients with chronic severe hepatitis B.

[Assessment of capacity for logisty, public education, and training in public health emergency management in China].

OBJECTIVE: To assess the capacity for logistics, public education, and training in managing public health emergency in China at present. METHODS: Four provinces were selected using stratified sampling. All the municipalities of these 4 provinces were assessed using the 9th and 10th subscales (logistics, public education and training) of Preparedness and response capacity questionnaire for public health emergencies for provincial or municipal governments developed by the Center for Health Statistics and Information, Ministry of Health of China. RESULTS: Sixty of the 66 questionnaires (90.91%) were collected. Among the 60 investigated municipalities, 80% established a specific agency to take charge of emergency material storage, management and allocation, 65% developed standard for material storage, 35% developed standard of places for material storage, 25% built regulation for testing, maintaining, and updating the emergency materials regularly, 45% arranged budget for routine payment, 27% established standard of emergency fund, and 28% set up the procedure to initiate emergency fund. The average of standard score of subscale 9 was 43.33 (95% confidence interval, 35.65~51.01). 25% of the 60 municipalities conducted assessment for training in the past 2 years, 53% developed plan for emergency personnel training, 20% developed effectiveness assessment regulation of emergency personnel training, 80% assigned a specific agency to be responsible for public education, and 23% established regulation for public education. The average of standard score of subscale 10 was 47.43 (95% confidence interval, 40.69~54.17). CONCLUSION: Serious problems are found in logistics, public education, and training for public health emergency management in China. Measures should be taken immediately by the central and local government to improve these capacities.

[Brief self-administered risk questionnaire for common nutrition-related diseases in middle school students].

OBJECTIVE: To develop a self-administered risk questionnaire for common nutrition-related diseases in middle school students. METHODS: Two phases were conducted to develop the questionnaire: scale development and validation. Phase 1 included 7 steps: (1) determining the objective, theoretical framework, principles and format for indicator generation; (2) setting up the preliminary indicator pool; (3) selecting indicators and forming pilot questionnaire through focus groups; (4) testing the pilot questionnaire; (5) further correcting the questionnaire using expert consultation; (6) choosing indicators again using good-poor analysis; and (7) shaping the final questionnaire. Phase 2 consisted of: (1) using the Pearson correlation coefficient to assess test-retest reliability; (2) using the Cronbach's alpha coefficient to assess the internal consistency reliability; (3) using the feedback from field investigation to assess face validity; and (4) using explanatory factor analysis to assess construct validity. Students from 96 classes were selected at random in Hunan Province as the field test samples using stratified sampling and cluster sampling. And the students from 4 out of the 96 classes were chosen again to serve as the test-retest samples. We used Epidata 3.0 to build the database and SPSS 11.0 to analyze the data. RESULTS: A brief self-administered risk questionnaire for common nutrition-related diseases in middle school students with 12 items being formed after Phase 1. Good-poor analysis showed results from t tests for each item were statistically significant (P<0.05). The Pearson correlation coefficient was 0.76 (P<0.05) and the Cronbach's alpha coefficient was 0.56. The questionnaire was accepted by the students participating in the field test. Four common factors were extracted using explanatory factor analysis, accounting for 50.18% of the total variation. CONCLUSION: The brief self-administered risk questionnaire for common nutrition-related diseases in middle school students is reliable and valid.

The relationship between the phenotype of Parkinson's disease and levodopa-induced dyskinesia.

Levodopa has been demonstrated to be an effective medication for Parkinson's disease (PD), but its long-term use is complicated by the subsequent development of dyskinesias. Few studies have distinguished distinct PD subtypes associated with the occurrence of Levodopa-Induced Dyskinesia (LID). Therefore, we performed a retrospective analysis to determine if the specific phenotype of PD and other epidemiological factors are associated with the development of LID. Of 367 PD patients taking levodopa, 101 of them developed LID. Multivariate logistic regression analysis demonstrated that initial tremor-dominant manifestation was associated with a reduced risk of LID, independent of other risk factors, such as age at the onset of PD, the duration and dose of levodopa.

LRRK2 Pro755Leu variant in ethnic Chinese population with Parkinson's disease.

Parkinson's disease (PD) is a common neurodegenerative disease resulting from complex interaction involving genetic and environmental risk factors on background of aging. In terms of genetic risk factors, recent studies provided a growing number of evidence for the idea that certain polymorphisms in familiar Parkinsonism genes may contribute to risk for sporadic PD in populations of specific ethnic backgrounds. To address this issue, a case-control study was conducted to determine the prevalence of LRRK2 Pro755Leu variant in 401 patients with sporadic PD and 398 unrelated healthy controls in Han population from mainland China. Heterozygous LRRK2 Pro755Leu variant was found in four patients and two healthy controls, but no statistical differences in genotypic or allelic frequencies between PD and control groups (genotype: P=0.686; allele: P=0.687) were detected. Furthermore, to evaluate its role in ethnic Chinese population, a meta-analysis was performed on Pro755Leu in population of Chinese ancestry throughout Asia. And it was detected at a similar frequency in PD and control cohort (Z=0.48, P=0.63, odds ratio=1.44, 95% CI: 0.32-6.40). Given these findings, it was quite reasonable to suppose that LRRK2 Pro755Leu variant rarely increased risk for PD in ethnic Chinese population in Asia.

PITX3 gene polymorphism is associated with Parkinson's disease in Chinese population.

Genetic variants of PITX3 gene have been reported to be associated with Parkinson's disease (PD) in several populations. We conducted a case-control study and genotyped the three SNPs of PITX3 gene: rs2281983, rs4919621 and rs3758549 in 512 mainland Chinese PD patients and 506 healthy controls. Our findings show that the PITX3 gene rs3758549 polymorphism is associated with PD (p=0.02). Moreover, the difference between late onset PD patients and healthy controls is stronger (p=0.007). There is no statistical difference in genotype or allele frequencies of rs2281983 or rs4919621 variant in PITX3 gene between sporadic PD (SPD) group and healthy control group in our study. To assess the possible role of the PITX3 gene rs3758549 polymorphism in PD, we conducted a meta-analysis on the topic. The results of meta-analysis further support that the PITX3 gene rs3758549 polymorphism is associated with PD: Z=3.09, p=0.002, OR=0.89. These findings suggest that the PITX3 gene rs3758549 polymorphism may increase the susceptibility of PD.

Screening for two SNPs of LINGO1 gene in patients with essential tremor or sporadic Parkinson's disease in Chinese population.

Two markers rs9652490 and rs11856808 both located in intron 3 of the LINGO1 gene have been nominated recently to be associated with essential tremor (ET). Although ET and Parkinson's disease (PD) are considered as different entities, they have many overlapping clinical and pathological features. We aimed to evaluate the role of rs9652490 and rs11856808 in the development of ET and PD. To this point, we sequenced the region involving the two markers in 109 ET cases, 425 sporadic Parkinson's disease (SPD) cases and 430 controls in Chinese population. After stratification by age, the rs9652490G allele suggested protective role in the early onset PD (EOPD, age at onset < or =50 years) group compared with age matched controls (OR=0.56, 95% CI: 0.35-0.90, p=0.015). No other significant association was found. We concluded that the two markers rs9652490 and rs11856808 were not strongly related to the development of ET or late onset SPD, but the rs9652490G allele might be a protective factor for EOPD in Chinese population.

[Metabolic syndrome and chronic kidney disease in a rural adult population of Hunan province, China].

OBJECTIVE: To explore the relationship between metabolic syndrome and chronic kidney disease (CKD) in a rural adult population of Hunan province. METHODS: 1953 residents (older than 18 years) from the same village were randomly selected, using a stratified, multistage sampling method. All residents were interviewed and tested for albuminuria with morning spot urine albumin to creatinine ratio (abnormal: >/= 30 mg/g), reduced renal function with estimated glomerular filtration rate by modified MDRD equation [abnormal: < 60 ml/min (1.73 m(2))]. The associations of kidney damage indicators with demographic characteristics (age, gender, smoking status), indicators on health (diabetes, hypertension) and metabolic syndrome traits were examined. RESULTS: Eligible data of 1709 subjects were enrolled in the study. After the adjustment of age, gender and other metabolic syndrome traits, participants with metabolic syndrome had a higher prevalence of CKD (19.3% vs. 13.2%, P < 0.001) than those without the syndrome. As the number of metabolic syndrome traits increased, so did the prevalence of CKD. There seemed to be a strong and independent association between metabolic syndrome and chronic kidney disease. For participants without hypertension and diabetes, metabolic syndrome was also associated with CKD (OR value 1.733, 95%CI: 1.20 - 2.41, P = 0.004). CONCLUSION: In these 1709 adults under this study from a village of southern China, metabolic syndrome seemed to be associated with CKD.