Healthy Chinese Han Population Research Articles

Reference intervals for LC-MS /MS measurements of plasma renin activity, aldosterone, angiotensin II, and 24-hour urinary aldosterone in Northern Chinese Han population

BackgroundExamination of aldosterone to Renin Ratio (ARR) and plasma aldosterone concentration (PAC) or 24-h urinary aldosterone excretion (24-h UALD) was the necessary tests in confirmatory tests for primary aldosteronism (PA). We developed a combined liquid chromatography-tandem mass spectrometry method (LC-MS/MS) for plasma renin activity (PRA), PAC, and angiotensin II (Ang II) and investigated their reference intervals (RIs) in northern Chinese Han population. The RIs of 24-h UALD excretion were also studied using LC-MS/MS. MethodsA total of 309 healthy volunteers were recruited in 3 cities in China. PRA, PAC, Ang II, and 24-h UALD were measured using the laboratory-developed LC-MS/MS. Multiple linear regression and the variance component model were applied to determine if the RI needed to be split. The RIs of PRA, PAC, and Ang II were determined using the nonparametric percentile method. ResultsThe laboratory-developed LC-MS/MS method was verified and showed good performance. Standard deviation ratio (SDR) sex for PAC and SDR region for Ang II are 0.466 and 0.407, respectively, indicating that the RIs of PAC and Ang II must be divided by sex and region, respectively. In addition, the SDR 24hUK for 24-h UALD is 0.579, indicating that the RI of 24-h UALD must be partitioned by urine potassium. ConclusionRIs were established for tests related to the renin-angiotensin-aldosterone system in the apparently healthy northern Chinese Han population by the LC-MS/MS method.

Preliminary study of genome-wide association identified novel susceptibility genes for thyroid-related hormones in Chinese population.

Thyroid hormones are critical regulators of metabolism, development and growth in mammals. However, the genetic association of thyroid-related hormones in the Chinese Han population is not fully understood. We aimed to identify the genetic loci associated with circulating thyroid-related hormones concentrations in the healthy Chinese Han population. Genotyping was performed in 124 individuals using Applied Biosystems™ Axiom™ PMDA, and 796,288 single nucleotide polymorphisms (SNPs) were available for the GWAS analysis. For replication, eleven SNPs were selected as candidate loci for genotyping by Agena MassARRAY platform in additional samples (313 subjects). The values of p < 5 × 10- 6 suggest a suggestively significant genome-wide association with circulating thyroid-related hormones concentrations. We identified that rs11178277 (PTPRB, p = 4.88 ×10- 07) and rs7320337 (LMO7DN-KCTD12, p = 1.22 × 10- 06) were associated with serum FT3 level. Three SNPs (rs4850041 in LOC105373394-LINC01249: p = 3.55 × 10- 06, rs6867291 in LINC02208: p = 2.40 × 10- 06 and rs79508321 in WWOX: p = 3.35 × 10- 06) were related to circulating T3 level. Rs12474167 (LOC105373394-LINC01249, p = 1.65 × 10- 06) and rs1864553 (IWS1, p = 2.00 × 10- 06) were associated with circulating T4 concentration. The association with TGA concentration was for rs17163542 in DISP1 (p = 3.46 × 10- 06) and rs12601151 in NOG-C17orf67 (p = 2.72 × 10- 07). Two genome-level significant SNPs (rs2114707 in LINC01314, p = 1.69 × 10- 06 and rs12601151, p = 1.41 × 10- 07) associated with serum TMA concentration were identified. Moreover, rs6083269 (CST1-CST2, p = 3.36 × 10- 06) was a significant locus for circulating TSH level. In replication, rs12601151 in NOG-C17orf67 was still associated with serum TGA level (p = 0.012). The GWAS reported 11 new suggestively significant loci associated with circulating thyroid-related hormones levels among the Chinese Han population. These findings represented suggestively biological candidates for circulating thyroid-related hormones levels and provided new insights into the mechanisms of regulating serum TGA concentration.

Genotype Distribution of CNDP1 Polymorphisms in the Healthy Chinese Han Population: Association with HbA1c and Fasting Blood Glucose.

We have previously reported that the CNDP1 (CTG)5 allele affords protection against diabetic nephropathy (DN) in patients with Type 2 diabetes (T2DM) of Caucasian origin. Because the incidence of ESRD attributable to both Type 1 diabetes (T1DM) and T2DM is higher among South Asian than Caucasian people, the present study assessed relevant CNDP1 polymorphisms and their association with metabolic parameters in the Chinese Han population. To this end, the (CTG)n allele distribution along with 5 relevant SNPs in the CNDP1 gene, previously reported to be associated with DN in non (CTG)5 carriers of Afro-American ethnicity, were determined in 663 healthy individuals. The (CTG)6 homozygous genotype was the most prevalent (84.5%) genotype in the Chinese Han population. The (CTG)5 and (CTG)4 alleles were present in a small minority of individuals accounting for 15.2% and 0.3% of genotypes with at least one (CTG)5 or one (CTG)4 allele, respectively. Only 0.5% of individuals carried the homozygous (CTG)5 genotype and individuals carrying the homozygous (CTG)4 genotype were not found. The minor allele frequencies (MAFs) of the 5 SNP were 0.197 (C allele for rs4892247), 0.0855 (C allele for rs62099905), 0.085 (G allele for rs62099906), 0.066 (T allele for rs62099907), and 0.18 (A allele for rs72979715). All the SNPs except rs4892247 genotypes were in the Hardy-Weinberg equilibrium. Neither the (CTG)n polymorphism nor the latter three SNPs reached significance when compared with different metabolic parameters. In contrast, individuals with the TT genotype of rs62099905 presented lower fasting blood glucose but higher HbA1c levels. In conclusion, the rs62099905 in the CNDP1 gene is associated with serum glucose levels in the healthy Chinese Han population, while for the CNDP1 (CTG)n polymorphism, no association with serological parameters was found.

Better pulmonary function is associated with greater handgrip strength in a healthy Chinese Han population

BackgroundHandgrip strength (HGS) has been widely studied in clinical and epidemiological settings, but the relationship between HGS and pulmonary function is still controversial. This study analysed pulmonary function and HGS stratified by sex and age in a healthy Chinese Han population, as well as the associations between HGS and pulmonary function parameters.MethodsHGS was measured by a Jamar dynamometer and pulmonary function was tested using a portable spirometer. Frequencies and variables are presented as percentages and means ± standard deviations, respectively. Chi-square tests were used for comparisons of categorical variables, and Student’s t-tests or Mann–Whitney U-tests were used for continuous variables. Pearson’s correlation coefficients were used to analyse the normally distributed variables, and Spearman correlation coefficients were used to analyse the non-normally distributed variables. Multivariate linear regression models were employed to explore the relationships between HGS and parameters of pulmonary function. The statistical significance was set at p < 0.01.ResultsCross-sectional data were available for 1519 subjects (59.0% females, 57.9 ± 13.3 years old). Males had higher average HGS than females (40.2 vs. 25.0 kg, p < 0.01), as well as better pulmonary function. Both HGS and pulmonary function parameters were significantly inversely correlated with age (r ≤ − 0.30, p < 0.01). The maximum value of vital capacity (VC max), forced expiratory volume in 3 s (FEV 3) and forced vital capacity (FVC) were strongly correlated with HGS among the pulmonary function indices (r = 0.72, 0.70 and 0.69, respectively, p < 0.001). In the multivariate linear regression analysis, HGS and height were positively correlated, while age and pulse pressure were negatively correlated with HGS. In males, the FVC, VC max and FEV3 increased by 0.02 L, 0.023 L and 0.03 L in per 1 kg increase in HGS, respectively. The HGS coefficients for females were smaller than those for males.ConclusionsBoth pulmonary function and HGS were inversely correlated with age, and better pulmonary function was associated with greater handgrip strength.

Age- and Sex-Specific Reference Intervals for Myocardial Enzyme Activity in Healthy Chinese Han Population Aged 1∼

Age- and sex-specific reference intervals (RIs) for myocardial enzyme activity of children and adolescents are not available in China. Our study aimed to establish age- and gender-related RIs for AST, LDH, CK, and CKMB activity in healthy Chinese Han population aged 1∼<18 years. Healthy Han children and adolescents (n = 6322, 1∼<18 years old) were assessed from completed questionnaires and defined criteria from communities and schools in 5 administrative districts of Jilin Province from September 2017 to December 2018. Measurements of AST, LDH, CK, and CKMB activity were performed on the VITROS 5600 Integrated System. Percentiles of enzyme activity were completed by LMS. RIs were established by Medcalc according to the EP28-A3c guidelines issued by the Clinical and Laboratory Standards Institute. AST declined rapidly during 1∼<6 years and had been subsided during 11∼<18 years, though LDH decreased at a steady rate. CK activity stabilized while CKMB showed a downward trend. Sex differences started after age 12 when males presented higher results. There were significant differences comparing with domestic and other countries' experiments which applied similar methodologies. Enzymes were associated with age and sex, while age had greater impact. We established age- and sex-specific RIs of serum AST, LDH, CK, and CKMB activities for Chinese children and adolescents using the VITROS 5600 Integrated System for the first time. These data will lay the groundwork for the next horizon in pediatric RIs as well as improve test result interpretation for pediatric illness.

Establishment of the reference interval for serum pro-gastrin-releasing peptide in healthy adults of Chinese Han ethnicity.

The aim of this study is to establish the reference interval for serum pro-gastrin-releasing peptide (proGRP) determined by electrochemiluminescence immunoassay (ECLIA) in healthy Chinese Han ethnic adults. After screening, 9932 healthy Chinese Han adults (age range 18-95 years) were enrolled in this study, including 6220 men and 3712 women. Serum proGRP levels were measured by ECLIA. The reference interval was defined by non-parametric 95th percentile interval. Serum proGRP levels conformed to a non-Gussian distribution. The reference interval for healthy Chinese Han adults calculated by the non-parametric method was 0-73.90 ng/mL in this study. Since serum proGRP levels were significantly correlated with age (r=0.226, P<0.001), the participants were divided into six age groups: 18-39, 40-49, 50-59, 60-69, 70-79, and ⩾80 years. No significant difference for serum proGRP levels was found between the sexes at each of six age groups. The reference intervals were gradually increased with age (65.35 ng/mL, 68.65 ng/mL, 74.10 ng/mL, 77.65 ng/mL, 84.57 ng/mL, and 98.03 ng/mL in 18-39, 40-49, 50-59, 60-69, 70-79, and ⩾80 years, respectively). We established the reference interval for serum proGRP, which was determined by ECLIA in the healthy Chinese Han population. Furthermore, our study suggests that it is necessary to establish the age-specific reference intervals for serum proGRP.

Establishment of reference interval for the tumour marker serum CYFRA 21-1 in healthy Chinese Han ethnic adults

Background: Our aim was to establish the reference interval (RI) for serum CYFRA 21-1 in healthy Chinese Han ethnic adults, since there has been no report about it.Methods: After screening, 9954 healthy Chinese Han adults (age range 18–95 years) were recruited, including 6639 (66.7%) males and 3315 (33.3%) females. Electrochemiluminescence immunoassay was used to measure serum CYFRA21-1. The RI was defined by nonparametric 95% percentile interval.Results: The distribution for serum CYFRA21-1 level was non-Gaussian. The RI for healthy Chinese Han adults calculated by nonparametric method was 0–4.47 ng/ml in this study, higher than that recommended by Roche Diagnostics GmbH (≤3.3 ng/ml). The reference values were higher in males than females before 50 years of age, although the difference was hardly seen after 50 years of age. The reference value increased with age in both males and females. Of slight difference, the increase of male reference value was obvious at 60–69 and more than 80 years of age, while that of female obvious at 50–69 and more than 80 years of age.Conclusions: We establish the RI for serum CYFRA21-1 in healthy Chinese Han population, which is higher than that recommended by Roche Diagnostics GmbH. Furthermore, our study suggests that it is necessary to establish the age- and sex-specific RIs for serum CYFRA21-1.

Reference intervals for stone risk factors in 24-h urine among healthy adults of the Han population in China.

The aim of the study was to establish reference intervals for 24-h urinary stone risk factors in the healthy Chinese Han population. From May 2013 to July 2014, we collected and analyzed 24-h urine samples from healthy adult Han population during a cross-sectional study across China. The protocol for analysis of 24-h urine included volume, pH, oxalate, citrate, sodium, potassium, chloride, calcium, phosphorous, creatinine, urate, magnesium, the ion activity products of calcium oxalate (AP(CaOx) indexs) and calcium phosphate (AP(CaP) indexs). We calculated the reference intervals according to the Clinical and Laboratory Standards Institute (CLSI) 2008 guidelines and compared them with those recorded in other studies. A total of 132 male and 123 female healthy subjects with a mean (SD, range) age of 52.4 (15.2, 19-89) years were eligible in the final analysis. Men had higher 24-h excretion of creatinine, calcium, urate and phosphorus and lower levels of citrate, magnesium, chloride, sodium and potassium than women. AP(CaOx) indexs and AP(CaP) indexs were significantly higher among men than women. When urinary findings were compared with the reference intervals, most of our data showed a high abnormality rate, especially for creatinine, calcium, citrate, magnesium, chloride, sodium and potassium. The present study revealed the normal metabolic status for stone risk factors of the Chinese Han population. It is therefore necessary for each country or region to define their own reference intervals for comparison of stone risk factors between patients and healthy subjects.

Adipose Triglyceride Lipase Gene Polymorphisms is Not Associated with Free Fatty Acid Levels in Chinese Han Population.

Elevated levels of free fatty acids (FFAs) play a role in the pathogenesis of insulin resistance and atherosclerosis. Adipose triglyceride lipase (also defined as patatin-like phospholipase domain containing 2 or PNPLA2) has been demonstrated to contribute to the release of FFA. The aim of this study was to investigate the association of PNPLA2 gene variations with FFA levels in healthy Chinese Han population. Single-nucleotide polymorphisms of PNPLA2 were genotyped using TaqMan method to perform association studies with serum level of FFA and other lipid parameters in 1765 subjects among healthy Chinese Han population. All the subjects were divided into two groups: normal FFAs group (FFAs ≤0.88 mmol/L) and high FFAs group (FFAs >0.88 mmol/L). Neither rs7925131 nor rs7942159 was significantly associated with FFA level. We observed no difference in the genotype frequency of rs7925131 or rs7942159 between the normal FFA group and the high FFA group. Our results do not support an association of rs7925131 or rs7942159 with the FFA levels among the Chinese Han population.

Reference Equations for the Six-Minute Walk Distance in the Healthy Chinese Han Population, Aged 18\u201330 Years

BackgroundThe six-minute walk test (6MWT) is a safe, simple, inexpensive tool for evaluating the functional exercise capacity. However, there is a lack of standard reference equations for the six-minute walk distance (6MWD) in the healthy Chinese Han population with an age of 18–30 years. The aims of the present study were as follows: 1) to measure the anthropometric data and the walking distance in a sample of healthy Chinese Han population, aged 18–30 years; 2) to construct reference equations for the 6MWD; 3) to compare the measured 6MWD of our cohort with previously published equations.MethodsThe anthropometric data, demographic, lung function and the walking distance of Chinese Han population, aged 18–30 years, were prospectively measured using a standardized protocol. Informed consent was obtained from each participant and the approval was obtained from the ethics committee of Wenzhou People’s Hospital. The 6MWT was performed twice and the longer 6MWD was used for further analysis.ResultsA total of 355 subjects (176 female and 179 male) completed the 6MWT, and the average walking distance was 627.3 ± 52.88 m. The walking distance was achieved by females compared with males (607.4 ± 51.00 m vs. 646.9 ± 47.15 m; p < 0.0001) and active subjects compared with non-active subjects (646.1 ± 48.27 m vs. 611.6 ± 51.52 m; p < 0.0001). Univariate analysis showed age, height, body mass index, resting blood pressure, heart rate and blood pressure after the walk test and difference in heart rate before and after the walk test were significantly correlated with the 6MWD. Stepwise multiple regression analysis showed that height and difference in heart rate before and after the walk test were independent predictors associated with the 6MWD. The reference equations from Caucasian, Canadian and Chilean populations tend to overestimate the walking distance in our subjects, while Brazilian and Arabian equations tend to underestimate the walking distance. There was no significant difference in the walking distance between Korean equations and the current study.ConclusionIn summary, height and difference in heart rate before and after the walk test were the most significant predictors of the 6MWD, and the regression equations could explain approximately 38% and 31% of the distance variance in the female and male groups, respectively.

Model Construction for Biological Age Based on a Cross-Sectional Study of a Healthy Chinese Han population.

Biological age (BA) has been proposed to evaluate the aging status in an objective way instead of chronological age (CA). The purpose of our study is to construct a more precise formula of BA in the cross-sectional study based on a largest-ever sample of our studies. This formula aims at better evaluation of body function and exploring the disciplines of aging in different genders and age stages. A total of 1,373 healthy Chinese Han (age range, 19-93 years) were recruited from five cities in China, including 581 males and 792 females. Physical examination, blood routine, blood chemistry, and other lab tests were performed to obtain a total of 74 clinical variables. Then, the principal component analysis (PCA) was used to select variables and estimate BA. The BA formula was further validated in a population with some diseases (n=266), including cardiovascular diseases, type 2 diabetes, kidney diseases, pulmonary diseases, cancer and disorders in nervous system. The BA formula was constructed as follows: BA = 0.358 (pulse pressure) + 0.258 (trail making test) - 11.552 (mitral valve E/A peak) + 26.383 (minimum intima-media thickness) + 31.965 (Cystatin C) + 0.163 (CA) - 3.902. In validation of the formula, BAs of patients were older than those of healthy persons. The BA accelerates faster in the middle-aged population than in the elderly population (>75 years old). This BA formula can reflect health condition changes of aging better than CA in a Chinese Han population.

GW25-e3479 Distribution of genetic polymorphisms of EGR3 gene in healthy Uygur and Chinese Han population in Xinjiang

GW25-e3479 Distribution of genetic polymorphisms of EGR3 gene in healthy Uygur and Chinese Han population in Xinjiang

ASSA13-11-7 Distributional Characteristics of Genetic Polymorphisms of Serum Amyloid Protein A1 in Healthy Chinese Han and Uighur Population in Xinjiang

Objective To explore the distributional characteristics of genetic polymorphisms (rs2229338 and rs12218) of serum amyloid protein A1 (SAA1) in healthy Chinese Han and Uighur population of Xinjiang. Methods 316 Uighur and 362 Han healthy persons were detected the genotypes of the SAA1 by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Results The genotype distributions of the Uighur group and the Han group were in the Hardy-Weinberg equilibrium (both P > 0.05). The frequencies of AA, AG and GG of rs2229338 were 76.6%, 23.4%, and 0 in Uighur group while ones were 91.7%, 7.7% and 0.6% in Han group. There was significant difference in distribution of genotypes between these two groups (P Conclusions The mutational frequencies of the tagging SNP (rs2229338 and rs12218) in the SAA1 gene of Uighur population were higher than those of Han.

An association study on the polymorphisms of dopaminergic genes with working memory in a healthy Chinese Han population.

Working memory (WM) is a highly heritable cognitive trait that is involved in many higher-level cognitive functions. In the past few years, much evidence has indicated that the reduction of dopamine activity in human brain can impair the WM system of the neuropsychiatric disorders. In this study, we hypothesized that some genes in the dopamine system were involved in the individual difference of the cognitive ability in healthy population. To confirm this hypothesis, a population-based study was performed to examine the effects of COMT, DAT (1), DRD (1), DRD (2), DRD (3), and DRD (4) on WM spans. Our results indicated there were significant associations of TaqIA and TaqIB in DRD (2) with digital WM span, respectively (χ(2) = 9.460, p = 0.009; χ(2) = 6.845, p = 0.033). On the other hand, we found a significant interaction between Ser9Gly in DRD (3) and TaqIA of DRD (2) on digital WM span (F = 3.207, p = 0.013). COMT, DAT (1) , DRD (1), and DRD (4), however, had no significant effects on digital and spatial WM spans (χ(2)<3.84, p > 0.05). These preliminary results further indicated that certain functional variants in dopamine system, such as TaqIA and TaqIB of DRD (2), were possibly involved in difference of WM in a healthy population.

No observable relationship between the 12 genes of nervous system and reasoning skill in a young Chinese Han population.

Reasoning skill is an advanced cognitive ability which is needed for drawing inferences from given information. It is well known that the ability depends on the neural network of the frontal and parietal brain regions. In this study, we hypothesized that some genes involved in neurotransmitter systems were related to reasoning skill. To confirm this hypothesis, we examined the effects of 13 genes (BDNF, NRSF, COMT, DBH, DRD(2), DRD(3), DAT(1), MAOA, GRM(1), GRIN2B, TPH(2), 5-HT(2A), and 5-HT(6)) in neurotransmitter systems on the non-verbal reasoning and verbal reasoning skills. The results indicated there were on significant effects of the 17 functional variants of these genes on the performance of non-verbal reasoning and verbal analogical reasoning skills (χ(2) > 3.84, df = 1, P > 0.05). This study suggests that some of the functional variations in BDNF, COMT, DBH, DRD(2), DRD(3), MAOA, 5-HT(2A), 5-HT(6), GRM(1), and GRIN2B have no observable effects on the certain reasoning skills in a young healthy Chinese Han population.

Polynucleotide repeat expansion of nine spinocerebellar ataxia subtypes and dentatorubral-pallidoluysian atrophy in healthy Chinese Han population

To assist the establishment of platform and provide the reference standard for mutation detection in spinocerebellar ataxia (SCA) subtypes 1, 2, 3, 6, 7, 8, 10, 12, 17 and dentatorubral-pallidoluysian atrophy (DRPLA) in Chinese Han population. The nucleotide repeat numbers of the 9 SCA subtypes and DRPLA were detected using fluorescence-PCR and capillary gel electrophoresis technique in 300 healthy Chinese Han individuals. Among the 300 healthy controls, the range of the CAG trinucleotide repeat number was 17 to 35 in SCA1, 14-28 in SCA2, 13-41 in SCA3/MJD, 4-16 in SCA6, 5-17 in SCA7, 5-21 in SCA12, 23-41 in SCA17, and 12-33 in DRPLA; and the range of CTA/CTG trinucleotide repeat number on SCA8 locus was 12-43 and the range of ATTCT pentanucleotide repeat number on SCA10 locus was 9-32. Of which, the 12 CTA/CTG repeats of SCA8, 9 ATTCT repeats of SCA10, 23 CAG repeats of SCA17 were the shortest normal repeat number, while the 41 CAG repeats of SCA3/MJD, 32 CAG repeats of SCA10 were the largest normal number that have not been reported. The normal ranges of polynucleotide repeats of different subtypes of SCA vary with geographical areas and ethnicities. It might be associated with the genetic and ethnic backgrounds. This is the first normal reference standard of polynucleotide repeat number of these ten SCA subtypes in Chinese Han.

TaqIB polymorphism in the CETP gene modulates the impact of HC/LF diet on the HDL profile in healthy Chinese young adults

The aim of this study was to investigate the interactions of genetic variants in the genes of cholesterol ester transfer protein ( CETP) and low-density lipoprotein receptor ( LDLR) with high carbohydrate and low fat (HC/LF) diet on lipid profiles in a young and healthy Chinese Han population. Fifty-six healthy subjects (22.89±1.80 years) were given washout diets of 31% fat and 54% carbohydrate for 7 days, followed by HC/LF diets of 15% fat and 70% carbohydrate for 6 days, with no total energy restriction. Serum lipid profiles at baseline, after washout and following HC/LF diets, as well as CETP and LDLR polymorphisms were analyzed. Carriers of B2 allele of CETP TaqIB polymorphism had significantly higher levels of high density lipoprotein cholesterol (HDL-C) and apo A-I in the whole study population after the diet intervention. Notably, males with CETP TaqIB B1B1 experienced significantly increased HDL-C and apo A-I after HC/LF diet. Regarding the LDLR Pvu II polymorphism, both P1P1 subjects and P2 carriers experienced decreased total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) levels after HC/LF diet with no statistically significant differences between the genotypes. Our results demonstrate that the elevated HDL-C levels after HC/LF diet in healthy Chinese Han youth are associated with CETP TaqI B2 allele while males with B1B1 genotype are more susceptible to the influence of HC/LF diet on their HDL-C levels. The decreased TC and LDL-C levels after HC/LF diet are not associated with LDLR Pvu II polymorphism.

Effect of BDNF Val66Met Polymorphism on Digital Working Memory and Spatial Localization in a Healthy Chinese Han Population

Cognitive abilities are complex human traits influenced by genetic factors. Brain-derived neurotrophic factor (BDNF), a unique polypeptide growth factor, has an influence on the differentiation and survival of neurons in the nervous system. A single-nucleotide polymorphism (rs6265) in the human gene, resulting in a valine to methionine substitution in the pro-BDNF protein, was thought to associate with psychiatric disorders and might play roles in the individual difference of cognitive abilities. However, the specific roles of the gene in cognition remain unclear. To investigate the relationships between the substitution and cognitive abilities, a healthy population-based study and the PCR-SSCP method were performed. The results showed the substitution was associated with digital working memory (p = 0.02) and spatial localization (p = 0.03), but not with inhibition, shifting, updating, visuo-spatial working memory, long-term memory, and others (p > 0.05) among the compared genotype groups analyzed by general linear model. On the other hand, the participants with BDNF (GG) had higher average performance in digital working memory and spatial localization than the ones with BDNF (AA). The findings of the present work implied that the variation in BDNF might play positive roles in human digital working memory and spatial localization.

Genetic and environmental factors associated with plasma paraoxonase activity in healthy Chinese

To characterize factors associated with plasma paraoxonase 1 (PON1) activity in healthy Chinese Han population, we carried out the present study, not only taking into account the total set of frequent polymorphisms present in PON1 gene in the Chinese Han population, but also some environmental factors. The -107T/C polymorphism as well as drinking and smoking were independently associated with plasma PON1 activity, determined by rates of phenylacetate hydrolysis. The -107T/C polymorphism had the predominant effect and accounted for 16% of the observed variability in plasma PON1 activity. Alcohol consumption can modulate the effects of cigarette smoking on PON1 activity, and smoking only decreases PON1 activity in non-drinkers. The increase of PON1 activity by drinking or the inhibition of PON1 activity by smoking varies according to PON1 -107T/C genotypes, and the associations were only observed in -107T allele carriers. The results illustrate the complexity of polymorphism-phenotype associations. The observed interactions constitute concrete examples of gene-environment and environment-environment interactions.