Han Chinese Adults Research Articles

Interactions Between PPARG and AGTR1 Gene Polymorphisms on the Risk of Hypertension in Chinese Han Population.

To explore the interactions between PPARG and AGTR1 polymorphisms and their associations with hypertension in the Chinese Han population. Seven single nucleotide polymorphisms (SNPs) of the PPARG gene and five SNPs of the AGTR1 gene were selected and genotyped in 1591 unrelated Chinese Han adults. The SNPAssoc package of R was used to analyze the associations between the selected SNPs and hypertension. The potential gene-gene interactions between PPARG and AGTR1 genes were tested by model-based multifactor dimensionality reduction (MB-MDR). The frequencies of the C allele of rs3856806 and the G allele of rs13433696 in the PPARG gene were significantly lower in hypertensive subjects, whereas the A allele of rs9817428 in the PPARG gene was much higher in hypertensives. In addition, individuals with T allele of rs2933249 in the AGTR1 gene displayed a significantly decreased risk of hypertension. MB-MDR analyses suggested that the two-locus model (rs9817428 and rs2933249) and the three-locus model (rs9817428, rs3856806, and rs2933249) were significantly associated with a decreased risk of hypertension. Moreover, among the eight SNPs not individually associated with hypertension (rs12631819, rs2920502, rs1175543, and rs2972164 in the PPARG gene, and rs2638360, rs1492100, rs5182, and rs275646 in the AGTR1 gene), the two-locus model involving rs12631819 and rs5182 demonstrated increased susceptibility to hypertension, and the five-locus model involving rs12631819, rs2920502, rs2972164, rs5182, and rs2638360 demonstrated a significantly decreased risk of hypertension. Polymorphisms in both the PPARG and AGTR1 genes were found to be significantly associated with hypertension. Moreover, there were significant gene-gene interactions identified between the PPARG and AGTR1 genes in relation to hypertension susceptibility in the Chinese Han population.

Serum reference interval of ARCHITECT alpha-fetoprotein in healthy Chinese Han adults: Sub-analysis of a prospective multi-center study

ObjectivesAlpha-fetoprotein (AFP) has been widely used in clinical practice for decades. However, large-scale survey of serum reference interval for ARCHITECT AFP is still absent in Chinese population. This study aimed to measure serum AFP levels in healthy Chinese Han subjects, which is a sub-analysis of an ongoing prospective, cross-sectional, multi-center study (ClinicalTrials.gov Identifier: NCT03047603). MethodsThis analysis included a total of 530 participants (41.43±12.14years of age on average, 48.49% males), enrolled from 5 regional centers. Serum AFP level was measured by ARCHITECT immunoassay. Statistical analysis was performed using SAS 9.4 and R software. ResultsAFP distribution did not show significant correlation with age or sex. The overall median and interquartile range of AFP was 2.87 (2.09, 3.83) ng/mL. AFP level did not show a trend of increasing with age. The new reference interval was 2.0–7.07ng/mL (LOQ– 97.5th percentiles). ConclusionsThe reference interval for ARCHITECT AFP is updated with the data of adequate number of healthy Han adults. This new reference interval is more practical and applicable in Chinese adults.

Association between BMP4 gene polymorphisms and eyelid traits in Chinese Han population

Forensic DNA phenotyping (FDP) refers to the prediction of unknown sample donors’ externally visible characteristics (EVCs) using only genetic information. Previous work indicated a promising FDP application of DNA-based eyelid traits prediction, especially for East Asian. To evaluate the association between polymorphisms of BMP4 gene and several types of eyelid traits, i.e. single eyelid (206 cases), typical double eyelid (312 cases) and atypical double eyelid (93 cases), two candidate SNPs were genotyped using PCR-RFLP followed with simulated case-control study in 611 Chinese Han adults. Significant differences were detected for rs2761882 CT and CT/TT genotypes between single eyelid and atypical double eyelid individuals (p<0.05); no difference was found for rs762642 polymorphisms (p>0.05). After stratification analysis, significantly increased incidence of type III eyelid was observed to be associated with rs762642 GG genotype. Further analysis involved more genetic markers and samples should be conducted in following studies.

Influence of weight status on 24-hour urine composition in adults without urolithiasis: A nationwide study based on a Chinese Han population.

ObjectivesThis study sought to explore the influence of different body weight statuses on 24-hour urine compositions in adults without urolithiasis based on a nationwide study of a Chinese Han population.Material and methodsTwenty-four-hour urine samples from 584 Chinese Han adults without urolithiasis in six cities were analyzed. The participants were divided into four body weight status types according to their body mass indices (BMIs) according to WHO guidelines. The baseline characteristics and 24-hour urine compositions of the standard weight group were compared with those of the underweight, overweight and obese groups. The influences of different body weight statuses on the 24-hour urine compositions were explored using univariate and multivariate logistic regressions.ResultsThe numbers of participants in the underweight, standard weight, overweight and obese status groups were 24, 376, 149 and 35, respectively. The overweight and obese groups suffered significantly higher risks of hypertension and diabetes mellitus than the standard weight group. In the univariate analyses, compared with the standard weight group, the overweight group had significantly higher levels of urine citrate (mean difference [MD] = 0.51 mmol, 95% confidence interval [CI]: 0.15–0.87, P = 0.001), potassium (MD = 6.63 mmol, 95% CI: 1.13–12.14, P = 0.01) and magnesium (MD = 0.38 mmol, 95% CI: 0.08–0.69, P = 0.014). Significant increases in urine citrate (MD = 0.85 mmol, 95% CI: 0.01–1.68, P = 0.046), magnesium (MD = 0.69 mmol, 95% CI: 0.13–1.25, P = 0.016) and phosphate (MD = 2.28 mmol, 95% CI: 0.03–4.54, P = 0.047) were found in the obese group. No significant differences were detected between the standard weight and underweight groups. In the multivariate logistic regression analyses, we only observed significantly higher levels of urine potassium (odds ratio [OR] = 1.02, 95% CI: 1.00–1.04, P = 0.03) in the overweight group and phosphate (OR = 1.32, 95% CI: 1.05–1.66, P = 0.018) in the obese group when compared with the standard weight group.ConclusionsNonstone-forming adults with overweight or obese statuses were at higher risks of hypertension and diabetes mellitus. Obese nonstone-formers might have a greater risk of urinary stone formation due to increased urinary phosphate excretion. Additionally, underweight status had no influence on 24-hour urine composition.

Waist-to-height ratio is better than body mass index and waist circumference as a screening criterion for metabolic syndrome in Han Chinese adults.

Metabolic syndrome (MetS) is a major public health concern. Efficient screening requires criteria that are economical, easily accessible, and applicable for all populations. We aimed to compare the discriminating ability of body mass index (BMI), waist circumference (WC), and waist-to-height ratio (WHtR) for the diagnosis of MetS in a Han Chinese population.Demographic information, obesity indices, and results of biochemical tests were collected from a cross-sectional sample of 8084 individuals (3619 men and 4465 women, 18-79 years old) from Changping District, Beijing, China. Areas under receiver operating characteristic curves (AUCs) and adjusted odd ratios of 3 obesity indices were analyzed and their optimal cutoffs were determined.For women, the AUCs demonstrated that WHtR was significantly more powerful than BMI and WC (both P < .05) for predicting MetS [WHtR, 0.857 (0.846-0.868); WC, 0.849 (0.837-0.860); BMI, 0.808 (0.795-0.821)]. For men, WHtR was significantly better than BMI [P < .05; WHtR, 0.859 (0.846-0.871); WC, 0.855 (0.843-0.868); BMI, 0.815 (0.802-0.829)]. The optimal cutoffs for WHtR for discriminating MetS were 0.51 in both genders. Multiple logistic regression confirmed the positive association between WHtR and the risk of MetS. In the nonobese subgroup, WHtR was also superior to BMI and WC for predicting MetS in men (P < .05) and better than BMI in women (P < .05).Among the obesity indices analyzed here, WHtR was the best for predicting MetS in Han Chinese adults, especially in nonobese adults.

No seasonal variation in physical activity of Han Chinese living in Beijing

BackgroundPhysical activity (PA) is widely acknowledged to be beneficial to health and wellbeing, and is potentially influenced by a variety of environmental factors such as ambient temperature, weather conditions and air pollution levels. Since these factors vary seasonally, physical activity participation may also respond seasonally. Current population studies to profile physical activity often sample individuals only once, and this may result in biased estimates if there is strong seasonal variation.MethodsWe conducted a study of 40 Han Chinese adults living in Beijing using GT3X accelerometers. We measured PA levels every two months across a complete year, while simultaneously monitoring ambient temperatures and air pollution levels. Average hourly vector magnitude (VM) and percentage time spent at each PA intensity (sedentary to light, moderate, vigorous and very vigorous) were measured. General Linear models (GLMs) were used to explore the effects of time of day, temperature and PM 2.5 levels on PA. One way ANOVA was used to test whether there were seasonal differences in body weight and body fatness.ResultsThe main factors influencing activity levels were the time of day and individual characteristics including age and body fatness, but there was no significant difference between the months. In addition, there was no significant impact of either ambient temperature or air pollution levels (PM2.5). There were also no significant differences over the year in the time spent at sedentary-light, moderate and very vigorous PA levels, but for vigorous PA level which occupied less than 0.5% daily physical activity, both month and individual were significant factors.ConclusionsThe relatively constant pattern of urban daily life, independent of time of year, may override the potential impacts of environmental factors that would be anticipated to impact PA levels. These subjects did not specifically avoid activity coincident with elevated air pollution levels (PM2.5). Single week long measurements of physical activity could provide a representative measurement of the physical active levels in this population.

MOG-antibody associated demyelinating disease of the CNS: A clinical and pathological study in Chinese Han patients

We aim to evaluate the clinical relevance of MOG-ab in a cohort of Chinese Han adults with CNS inflammatory demyelinating diseases (IDDs). MOG-ab and AQP4-ab were examined through a fixed cell based indirect immune-fluorescence assay in 86 patients with CNS-IDDs. MOG-ab was positive in 12 patients, while AQP4-ab was positive in 31 patients; none double positives. Optic neuritis (ON) was the most frequent symptom at onset (75.0%) or during the whole disease course (83.3%) of MOG-ab associated IDDs (MOG-IDDs); 79.5% of the episodes involved only the optic nerve in MOG-IDDs. MOG-ab related ON (MOG-ON) usually caused severe visual impairment, longitudinally extensive optic nerve lesion with anterior enhancement and perineural soft tissue enhancement, responded well to steroid, but still could leave remarkable thinning of retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC). MOG-IDDs had less spinal cord involvement compared to AQP4-ab mediated NMO/SD. Heterogeneous brain lesions existed in 66.7% of the patients with MOG-IDDs. Large, edematous white matter lesions were observed with the pathological feature of obvious demyelination yet preservation of astrocyte and axon, fundamentally different from the astrocytopathy typically seen in NMO/SD. Our investigations suggest that MOG-ab mediates a distinct disease entity separate from NMO/SD.

The Levels of Serum Irisin as a Predictor of Insulin Resistance in Han Chinese Adults with Metabolically Healthy Obesity.

The aim of this study was to evaluate serum irisin levels and analyze its related factors in Han adults with metabolically healthy obesity. This cross-sectional study included 75 metabolically healthy, non-obese adults and 51 metabolically healthy, obese adults. Anthropometric measurements, including height, weight, waist circumference (WC), and blood pressure, were performed. All patients underwent an oral glucose tolerance test (OGTT) after 8 hours of fasting, and the levels of glucose, insulin, lipids, and serum irisin were measured. The levels of serum irisin (5.40 ± 1.69 vs. 6.46 ± 1.37 µg/mL) were significantly lower in the metabolically healthy obese group (p < 0.05). Irisin correlated positively with high density lipoprotein cholesterol (HDL-C) (r = 0.303) and correlated negatively with body mass index (BMI) (r = -0.389), WC (r = -0.324), fasting plasma glucose (FPG) (r = -0.441), HOMA-IR (r = -0.429), triglycerides (TG) (r = -0.185), total cholesterol (TC) (r = -0.209), low density lipoprotein cholesterol (LDL-C) (r = -0.157) (p < 0.05). Multiple regression analysis revealed that FPG (β = -1.720, p = 0.001) and HOMA-IR (β = -0.399, p = 0.006) were still significantly associated with irisin. Serum irisin (β = -0.246, p = 0.005) and BMI (β = 0.078, p = 0.043) were significant independent predictors for HOMAIR. Serum irisin levels were reduced in metabolically healthy, obese Han adults. Irisin reduction appears to be associated with elevated FPG and insulin resistance but not obesity. In additional, falling irisin may increase the occurrence of insulin resistance in metabolically healthy Han adults and should be examined in future studies.

Incidence and Simple Prediction Model of Hyperuricemia for Urban Han Chinese Adults: A Prospective Cohort Study.

Background: Hyperuricemia (HUA) contributes to gout and many other diseases. Many hyperuricemia-related risk factors have been discovered, which provided the possibility for building the hyperuricemia prediction model. In this study we aimed to explore the incidence of hyperuricemia and develop hyperuricemia prediction models based on the routine biomarkers for both males and females in urban Han Chinese adults. Methods: A cohort of 58,542 members of the urban population (34,980 males and 23,562 females) aged 20–80 years old, free of hyperuricemia at baseline examination, was followed up for a median 2.5 years. The Cox proportional hazards regression model was used to develop gender-specific prediction models. Harrell’s C-statistics was used to evaluate the discrimination ability of the models, and the 10-fold cross-validation was used to validate the models. Results: In 7139 subjects (5585 males and 1554 females), hyperuricemia occurred during a median of 2.5 years of follow-up, leading to a total incidence density of 49.63/1000 person years (64.62/1000 person years for males and 27.12/1000 person years for females). The predictors of hyperuricemia were age, body mass index (BMI) systolic blood pressure, serum uric acid for males, and BMI, systolic blood pressure, serum uric acid, triglycerides for females. The models’ C statistics were 0.783 (95% confidence interval (CI), 0.779–0.786) for males and 0.784 (95% CI, 0.778–0.789) for females. After 10-fold cross-validation, the C statistics were still steady, with 0.782 for males and 0.783 for females. Conclusions: In this study, gender-specific prediction models for hyperuricemia for urban Han Chinese adults were developed and performed well.

Estimation of stature by using the dimensions of the right hand and right foot in Han Chinese adults

The Han Chinese people are the main ethnic group in China and the largest ethnic group in the world. The dimensions of the hands and feet have been successfully used for the estimation of stature. A total of 26,927 healthy adult subjects, comprising 13,221 men and 13,706 women, were recruited. The survey samples were chosen through random cluster sampling. The mean values were significantly higher in men than those in women for all measurements (P<0.001). All the measurements showed a statistically significant correlation with stature (P<0.01). The combination of the right hand length and the right foot length was the best predictor of stature because it had the lowest standard error of estimate. The use of multiple regression equations yielded better results than did the use of linear regression equations. The accuracy of stature prediction ranged from ±4.81 to ±6.39 cm. The present study was of great importance with regards to improving the physical anthropology database of ethnic groups in China.

Role of NCAN rs2228603 polymorphism in the incidence of nonalcoholic fatty liver disease: a case-control study

BackgroundRecently genome-wide association studies identified that NCAN rs2228603 polymorphism was associated with non-alcoholic fatty liver disease (NAFLD) mainly in subjects of European ancestry. While no research have been conducted to demonstrate the relationship between NCAN rs2228603 and NAFLD in Chinese Han adults. The aim of this study was to investigate whether NCAN rs2228603 is associated with NAFLD in Chinese population.MethodsGene NCAN rs2228603 was genotyped in 182 patients with NAFLD and 195 healthy controls. The expression of NCAN was tested according to polymerase chain reaction analysis (PCR) and serum lipids were performed by biology techniques.ResultsNo significant difference was found in genotype and allele frequencies of NCAN rs2228603 between the NAFLD group and the controls (P > 0.05). Subjects with the NCAN rs2228603 CT genotype showed a higher level of alkaline phosphatase (AKP) (P = 0.017) and a higher high-density lipoprotein (HDL) (P < 0.05).ConclusionsOur study for the first time identified that the gene NCAN rs2228603 is not a risk factor for the incidence of NAFLD in Chinese population. Also we found the dual and opposite role of T variant in protecting liver with a higher level of HDL and conferring risk for liver damage with a higher level of AKP.Trial registrationChinese Clinical Trial Register.gov Identifier: ChiCTR-ROC-15006447.

Association of Cytotoxic T-Lymphocyte-Associated Protein 4 (CTLA4) Gene Polymorphisms with Autoimmune Thyroid Disease in Children and Adults: Case-Control Study.

Autoimmune thyroid disease (AITD), including Graves disease (GD) and Hashimoto disease (HD), is an organ-specific autoimmune disease with a strong genetic component. Although the cytotoxic T-lymphocyte-associated protein 4 (CTLA4) polymorphism has been reported to be associated with AITD in adults, few studies have focused on children. The aim of our study was to investigate whether the CTLA4 polymorphisms, including -318C/T (rs5742909), +49A/G (rs231775), and CT60 (rs3087243), were associated with GD and HD in Han Chinese adults and children. We studied 289 adult GD, 265 pediatric GD, 229 pediatric HD patients, and 1058 healthy controls and then compared genotype, allele, carrier, and haplotype frequencies between patients and controls. We found that CTLA4 SNPs +49A/G and CT60 were associated with GD in adults and children. Allele G of +49A/G was significantly associated with GD in adults (odds ratio [OR], 1.50; 95% confidence interval [CI], 1.21–1.84; corrected P value [Pc] < 0.001) and children (OR, 1.42; 95% CI, 1.15–1.77; Pc = 0.002). Allele G of CT60 also significantly increased risk of GD in adults (OR, 1.63; 95% CI, 1.27–2.09; Pc < 0.001) and GD in children (OR, 1.58; 95% CI, 1.22–2.04; Pc < 0.001). Significant linkage disequilibrium was found between +49A/G and CT60 in GD and control subjects (D’ = 0.92). Our results showed that CTLA4 was associated with both GD and HD and played an equivalent role in both adult and pediatric GD in Han Chinese population.

Associations of polymorphisms in circadian genes with abdominal obesity in Chinese adult population

Circadian rhythm, which is controlled by circadian genes, regulates metabolic balance including the circulating levels of glucose, fatty acids, triglycerides, various hormones and so on. The study aimed to investigate the impact of potential polymorphisms in circadian genes on abdominal obesity among Chinese Han adults. A total of 260 cases with abdominal obesity and 260 controls were recruited by individual matching. Demographic characteristics and lifestyle information were collected by a validated questionnaire, and anthropometric parameters was measured by physical examination. Twenty-three single nucleotide polymorphisms (SNPs) in three circadian genes, CLOCK, CRY1 and CRY2, were genotyped by MassArray technique. Five SNPs significantly deviated from Hardy-Weinberg equilibrium (HWE) among controls, so eighteen SNPs were taken into logistic regression analysis. Independently, CLOCK rs10002541 (CC genotype vs. TT genotype: OR: 0.45, 95% CI: 0.23-0.86), CLOCK rs6850524 (CC genotype vs. GG genotype: OR: 0.50, 95% CI: 0.25-0.99) and CRY1 rs10861688 (TT genotype vs. CC genotype: OR: 0.50, 95% CI: 0.25-0.97) were negatively associated with the risk of abdominal obesity. Haplotype analysis showed that the haplotypes of CG and TG for CLOCK rs10002541 and rs4864546 had significant associations with abdominal obesity. Compared with the carriers of TA, those of CG were observed to have a lower risk (OR: 0.74, 95% CI: 0.56-0.99) of abdominal obesity, and those of TG presented a higher risk (OR: 1.70, 95% CI: 1.03-2.81). Our findings suggest that CLOCK and CRY1 polymorphisms might be involved in individual susceptibility to abdominal obesity in Chinese Han population.

PPARD rs2016520 polymorphism is associated with metabolic traits in a large population of Chinese adults

AimsPolymorphism of rs2016520 in gene PPARD has been associated with lipid metabolism, obesity, metabolic syndrome and type 2 diabetes mellitus (T2DM). We aimed to study the association of rs2016520 with common metabolic traits in a large population of Han Chinese adults. MethodsThe polymorphism was genotyped in 1409 subjects using Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry (MALDI-TOF MS); all participants underwent standard clinical examination and a 75g oral glucose tolerance test (OGTT); associations between the polymorphism and metabolic traits and indices of insulin resistance and insulin sensitivity were analyzed. ResultsThere was no significant difference in genotypes between the normal glucose tolerance (NGT) and the prediabetes group (χ2=3.17, P=0.2), except a nominal difference of allele frequency (χ2=3.07, P=0.07). The G carrier presented lower fasting plasma glucose (FPG, P=0.03), lower 2h plasma glucose (Pdom=0.04) and lower fasting insulin (P=0.02), lower systolic blood pressure (SBP, P=0.03), lower HOMA-IR (P=0.02) and higher QUICKI (P=0.01). Moreover, rs2016520 polymorphism was associated with FPG (β=−0.09, P=0.05), it was also associated with indices of insulin resistance (HOMA-IR, β=−0.06, Pdom=0.02; fasting insulin, β=−0.04, P=0.02) and indices of insulin sensitivity (QUICKI, β=−0.01, P=0.004). In addition, we observed that the allele G was also associated with lower SBP (β=−1.29, P=0.04) and diastolic blood pressure (DBP, β=−0.09, P=0.01). However, the minor allele G was not associated with risk of metabolic disorders including prediabetes, overweight, hypertension and metabolic syndrome. ConclusionsPolymorphism of rs2016520 in gene PPARD was associated with benign metabolic traits in a large cohort of Chinese adults. The G allele may confer protection from type 2 diabetes and hypertension in Han Chinese.

Association Between Helicobacter pylori Infection and Risk of Periodontal Diseases in Han Chinese: A Case-Control Study.

BackgroundThis study was performed to test the association between Helicobacter pylori (HP) and periodontal disease (PD).Material/MethodsThis was a case-control study in a comprehensive hospital, including all patients with newly diagnosed PD between 2012 and 2014 as cases and all patients without PD as controls, thorough periodontal examinations. Those who tested positive for HP were examined by means of polymerase chain reaction. Single and multivariate logistic regression was used to analyze the data using SPSS 19.0 software.ResultsThis case-control study included 212 Han Chinese non-smoking adults. The results indicated that HP-positive status significantly increased the risk of PD (2.63 times higher (odds ratio [OR]=2.63; 95% confidence interval [CI]=1.48–4.67). After adjustment for age, sex, level of education, physical exercise, body mass index, and history of alcohol and diabetes mellitus, this association remained significantly (OR=2.82, 95% CI=1.55–5.13).ConclusionsPD might be associated with HP infection in adults and HP infection may be a significant and independent risk factor for PD.

Doppler Echocardiographic Measurements in Normal Chinese Adults (EMINCA): a prospective, nationwide, and multicentre study

Currently, available Doppler echocardiographic reference values are derived mainly from North American and European population studies, which may not applicable to the Chinese population. We aimed to establish normal reference values of Doppler echocardiographic parameters in a nationwide, population-based cohort of healthy Han Chinese adults. A total of 1394 qualified healthy subjects (mean age 47.3 ± 16.0 years, 678 men) were enrolled at 43 collaborating laboratories, 37 transvalvular flow and tissue Doppler parameters were obtained, and the impacts of gender and age on each parameter were analysed. Significant differences were found between men and women in 48.6% (18/37) of the parameters analysed, and among different age groups in 83.8% (31/37) of the parameters in men and in 86.5% (32/37) of the parameters in women. Normal reference values of Doppler echocardiographic parameters were established for the first time in a nationwide, population-based cohort of healthy Han Chinese adults. Since most of these parameters differed by gender and/or age, reference values specified for gender and age should be recommended in clinical practice.

Effect of Interaction between PLIN Gene Polymorphisms and Open Lifestyle Intervention on Weight-loss in Chinese Han Adults

To explore the effect of the interaction between PLIN gene polymorphisms and open lifestyle intervention on weight-loss in Chinese Han adults. Totally 109 overweight or obese subjects were assigned by random number table to the intervention group (n=56) or control group (n=53),and subjects in the intervention group received 22-week open lifestyle intervention. Anthropometric and metabolic indicators were measured for all subjects before and after intervention,and the PLIN1,PLIN4,and PLIN6 genotypes were amplified by polymerase chain reaction and sequenced through the first-generation sequencing technologies. Among all these subjects,the rare allele C was dominant at PLIN1 (0.619),the common allele G was dominant at PLIN4 (0.606),and the common allele A was dominant at PLIN6 (0.564),in which PLIN1 and PLIN4 as well as PLIN4 and PLIN6 were in strong linkage disequilibrium (D'>0.9). After intervention,the body mass index,waist circumference,and body fat percent of female subjects were significantly decreased in intervention group and were lower than in control group;in male subjects,however,only the waist circumference showed significant difference with the control group (P<0.05). Subjects carrying rare allele homozygote of PLIN6 got less weight/fat loss than those carrying common alleles in intervention group,while subjects carrying rare allele of PLIN1 had more weight/fat increase than those with common allele homozygote in control group (P<0.05). Females in intervention group carrying any one of rare allele homozygotes of PLIN1,PLIN4 and PLIN6 got less weight/fat loss than those with common alleles,and female subjects carrying the rare allele homozygote haplotype of PLIN1/PLIN4 or PLIN4/PLIN6 got less weight/fat loss than those with other haplotypes (P<0.05). The interaction between open lifestyle intervention and PLIN gene polymorphisms can directly influence weight-loss in Chinese Han overweight and obese adults.

A primary investigation on SNPs associated with eyelid traits of Chinese Han Adults

Single/double eyelids present one of the most typical oriental externally visible characteristics in Asian populations. To investigate SNPs related to eyelid phenotypes in Chinese, genotyping of 4 candidates SNPs was performed with DNA from 96 (single/double eyelids 48 respectively) healthy Chinese adults through TaqMan® probes. SNP rs2277404 on the ABCC9 gene had a significantly different distribution for C/T and T/T genotype frequencies in single/double eyelids populations (p<0.05); no difference was found for rs7316271 of the ABCC9 gene. Inconsistent genotype frequencies between single/double eyelids groups were found for SNP rs12635264 and rs1717652 on the MASP1 gene (p>0.05). More samples and genetic markers should be tested in follow-up research to predict eyelid traits with high accuracy.

GW26-e1827 Effect of interaction between PLIN gene polymorphism and open lifestyle intervention on weight-loss in Chinese Han Adults

GW26-e1827 Effect of interaction between PLIN gene polymorphism and open lifestyle intervention on weight-loss in Chinese Han Adults

Assessment of functional tag single nucleotide polymorphisms within the DRD2 gene as risk factors for post-traumatic stress disorder in the Han Chinese population

BackgroundGene variations related to the dopaminergic pathway have been implicated in a number of neuropsychiatric disorders, including post-traumatic stress disorder (PTSD). Dopamine D2 receptor (DRD2) has been shown to significantly contribute to neuropsychiatric disorders and may specifically contribute to predisposition to PTSD. This study aimed to evaluate the association of polymorphisms within the entire DRD2 gene with PTSD in a case-control study. Materials and methodsA total of 834 unrelated Han Chinese adults, including 497 healthy volunteers and 337 patients with PTSD, were used in this study. Fifteen tag single-nucleotide polymorphisms (tSNPs) were selected spanning the entire DRD2 gene through the construction of haplotype bins. Genotypes were gathered using an improved multiplex ligation detection reaction (iMLDR) technique. Allelic frequencies and clinical characteristics were compared in two independent Han Chinese populations. Moreover, the functionality of the rs2075652 and rs7131056 polymorphisms were assessed by measuring transcriptional enhancer activities. ResultsFifteen tag SNPs were identified in the Han Chinese population and all were common SNPs. Among 15 tSNPs, two of them (rs2075652 and rs7131056) significantly associated with PTSD. PTSD individuals were more likely to carry the rs2075652A and rs7131056A allele compared to the controls (P<0.05). The haplotype GTGATCGCGCAGGCG, had a risk effect on PTSD occurrence (OR=1.75, 95% CI: 1.24–2.48, P=0.002). Additionally, the rs2075652 polymorphism contained intronic enhancer activities. ConclusionsThe rs2075652 and rs7131056 polymorphisms, and the haplotype GTGATCGCGCAGGCG within the DRD2 gene, may be potential markers to predict susceptibility to PTSD.