Ethnic Populations In China Research Articles

Rs144012689 is a highly specific representative marker of HLA-B*15:02 in the Chinese population.

Objective: To develop an accurate and rapid real-time PCR technique for HLA-B*15:02 genotyping and investigate HLA-B*15:02 allele frequency in four ethnic populations in China. Materials & methods: Based on the highly specific representative markers, a real-time PCR assay was developed for HLA-B*15:02 genotyping, and HLA-B*15:02 allele frequencies were screened in four ethnic populations of China. Sequence-based typing was used to validate the accuracy of the assay. Results: The sensitivity and specificity of the assay were 100%, and the detection limit was 0.2ng. The frequency of HLA-B*15:02 alleles distributed in the Bouyei population was significantly higher than in the Han group (p<0.01). Neither the Tibetan nor the Uyghur population carried the HLA-B*15:02 haplotype. Conclusion: The authors developed an accurate HLA-B*15:02 genotyping method for evaluating the risk of adverse drug reactions induced by carbamazepine in various ethnic populations in China.

Effect of a brief intervention with small financial incentives on alcohol consumption in China: study protocol for a randomised controlled trial

IntroductionAlcohol consumption is the seventh leading risk factor for disability-adjusted life years in the world, according to the Global Burden of Disease Study 2017. As the largest developing country, China...

Haplotypic Associations and Differentiation of MHC Class II Polymorphic Alu Insertions at Five Loci With HLA-DRB1 Alleles in 12 Minority Ethnic Populations in China.

The analysis of polymorphic variations in the human major histocompatibility complex (MHC) class II genomic region on the short-arm of chromosome 6 is a scientific enquiry to better understand the diversity in population structure and the effects of evolutionary processes such as recombination, mutation, genetic drift, demographic history, and natural selection. In order to investigate associations between the polymorphisms of HLA-DRB1 gene and recent Alu insertions (POALINs) in the HLA class II region, we genotyped HLA-DRB1 and five Alu loci (AluDPB2, AluDQA2, AluDQA1, AluDRB1, AluORF10), and determined their allele frequencies and haplotypic associations in 12 minority ethnic populations in China. There were 42 different HLA-DRB1 alleles for ethnic Chinese ranging from 12 alleles in the Jinuo to 28 in the Yugur with only DRB1∗08:03, DRB1∗09:01, DRB1∗12:02, DRB1∗14:01, DRB1∗15:01, and DRB1∗15:02 present in all ethnic groups. The POALINs varied in frequency between 0.279 and 0.514 for AluDPB2, 0 and 0.127 for AluDQA2, 0.777 and 0.995 for AluDQA1, 0.1 and 0.455 for AluDRB1 and 0.084 and 0.368 for AluORF10. By comparing the data of the five-loci POALIN in 13 Chinese ethnic populations (including Han-Yunnan published data) against Japanese and Caucasian published data, marked differences were observed between the populations at the allelic or haplotypic levels. Five POALIN loci were in significant linkage disequilibrium with HLA-DRB1 in different populations and AluDQA1 had the highest percentage association with most of the HLA-DRB1 alleles, whereas the nearby AluDRB1 indel was strongly haplotypic for only DRB1∗01, DRB1∗10, DRB1∗15 and DRB1∗16. There were 30 five-locus POALIN haplotypes inferred in all populations with H5 (no Alu insertions except for AluDQA1) and H21 (only AluDPB2 and AluDQA1 insertions) as the two predominant haplotypes. Neighbor joining trees and principal component analyses of the Alu and HLA-DRB1 polymorphisms showed that genetic diversity of these genomic markers is associated strongly with the population characteristics of language family, migration and sociality. This comparative study of HLA-DRB1 alleles and multilocus, lineage POALIN frequencies of Chinese ethnic populations confirmed that POALINs whether investigated alone or together with the HLA class II alleles are informative genetic and evolutionary markers for the identification of allele and haplotype lineages and genetic variations within the same and/or different populations.

Prevalence of Amblyopia and Associated Risk Factors in Tibetan Grade One Children

Introduction: Amblyopia is an important public health problem and standard screening is quite necessary for early diagnosis and treatment especially for the remote areas. As the place of the largest Tibetan population, the Tibetan Plateau has special geographical characteristics such as high altitude, time zone, and ethnic composition, where very little information is available about the prevalence of amblyopia and other ocular diseases. The article aims to determine the prevalence of amblyopia and associated factors in grade 1 Tibetan children, living in Lhasa, Tibet Autonomous Region. Methods: A cross-sectional study was conducted. All the participants were scheduled for comprehensive eye examinations including visual acuity testing, ocular deviation and movement evaluation, cycloplegic refraction and examinations of the external eye, anterior segment, media, and fundus. Amblyopia was assessed in the children according to the standard definition. Results: A total of 1,856 students participated in the examinations (97.58% response rate). 1,852 students completed all the related examinations, and 34 of them were diagnosed as amblyopia with the prevalence of 1.84% (95% confidence interval [CI]: 1.22–2.45%). Unilateral amblyopia was diagnosed in 23 students (1.24%, 95% CI: 0.74–1.75%), including 16 anisometropic, 4 strabismic, 1 visual deprivational, and 2 mixed. Other 11 students were diagnosed as bilateral amblyopia (0.59%, 95% CI: 0.24–0.94%), including 9 ametropic, 1 deprivational, and 1 with nystagmus. The mean cylinder refraction and absolute value of the spherical equivalent refraction of amblyopic eyes was respectively −2.15 ± 1.52 D and 2.70 ± 2.33 D. Amblyopia was significantly associated with hyperopia (≥+2.00 D, odds ratio [OR] 8.22, 95% CI 3.42–19.72), astigmatism (≤−2.00 D, OR 6.76, 95% CI 2.56–17.85), and anisometropia (≥+0.50 to <+1.00 D, OR 3.95, 95% CI 1.44–10.79; ≥+1.00 D, OR 21.90, 95% CI 8.24–58.18). Conclusions: The prevalence of amblyopia in grade 1 students of Lhasa is relatively higher than that of many other ethnic populations in China previously reported. Refractive errors including anisometropia, hyperopia, and astigmatism are the major risk factors of amblyopia.

Ancestry Inference Using the ForenSeqTM DNA Signature Prep Kit.

Objective To evaluate the effect of 56 ancestry informative single nucleotide polymorphism （aiSNP） genetic markers in the ForenSeqTM DNA Signature Prep Kit on ancestry inference. Methods A total of 85 samples from five populations including Hebei Han population, Inner Mongolia autonomous region Mongolian population, Tibet autonomous region Tibetan population, Xinjiang Uygur autonomous region Uygur population and Nigerian population were collected. The library was constructed with the ForenSeqTM DNA Signature Prep Kit and sequencing was performed based on the MiSeq FGx Forensic Genomics System. Using universal analysis software （UAS） of ForenSeqTM, principal component analysis （PCA）, Structure and likelihood ratio method was used on the genotyping data of 56 aiSNP markers, respectively, and the genetic relationships between populations and inference of the origin of ancestors were analyzed. Results Among the five populations tested, the four ethnic populations in China （Hebei Han population, Inner Mongolia autonomous region Mongolian population, Tibet autonomous region Tibetan population and Xinjiang Uygur autonomous region Uygur population） could be significantly distinguished from Nigerian population. Xinjiang Uygur autonomous region Uygur individuals were shown as having mixed origins of ancestors and could be distinguished from the other three Chinese populations. However, the other three populations in China （Hebei Han population, Inner Mongolia autonomous region Mongolian population and Tibet autonomous region Tibetan population） could not be effectively distinguished by the system. Conclusion The 56 aiSNP markers in the ForenSeqTM DNA Signature Prep Kit can make accurate ancestry inference from the intercontinental level, but it is not yet able to distinguish between Chinese subpopulations.

Distribution of Killer-Cell Immunoglobulin-Like Receptor Genes and Combinations of Their Human Leucocyte Antigen Ligands in 11 Ethnic Populations in China.

The aim of this study was to analyze the distribution of killer-cell immunoglobulin-like receptor (KIR) genes and their human leucocyte antigen (HLA) ligand combinations in different original ethnic populations in China, and thus, to provide relevant genomic diversity data for the future study of viral infections, autoimmune diseases, and reproductive fitness. A total of 1119 unrelated individuals from 11 ethnic populations—including Hani, Jinuo, Lisu, Nu, Bulang, Wa, Dai, Maonan, Zhuang, Tu, and Yugu—from four original groups, were included. The presence/absence of the 16 KIR loci were detected, and the KIR gene’s phenotype, genotype, and haplotype A and B frequencies, as well as KIR ligand’s HLA allotype and KIR–HLA pairs for each population, were calculated. Principal component analysis and phylogenetic trees were constructed to compare the characteristics of the KIR and KIR–HLA pair distributions of these 11 populations. In total, 92 KIR genotypes were identified, including six new genotypes. The KIR and its HLA ligands had a distributed diversity in 11 ethnic populations in China, and each group had its specific KIR and KIR–HLA pair profile. The difference among the KIR–HLA pairs between northern and southern groups, but not among the four original groups, may reflect strong pressure from previous or ongoing infectious diseases, which have a significant impact on KIR and its HLA combination repertoires.

Genetic polymorphisms, forensic efficiency, and phylogenetic analysis of 15 autosomal STR loci in the Uygur population of Ili Kazakh Autonomous Prefecture, Northwestern China.

The genetic polymorphisms of 15 autosomal short tandem repeat (STR) loci were analyzed in 449 individuals of the Uygur population from Ili Kazakh Autonomous Prefecture, Northwestern China. Phylogenetic analysis was performed among the Ili Uygur population and other relevant populations. The neighbor-joining tree and multidimensional scaling plot were generated based on the Nei's standard genetic distance. We found a total of 173 alleles with corresponding frequencies ranging from 0.5022 to 0.0011. The combined powers of discrimination and exclusion for the 15 autosomal STR loci were 0.99999999985 and 0.99999880065, respectively. Population comparisons indicated that the Ili Uygur population had a relatively close genetic relationship with the Uygur populations from other regions of China. The pairwise genetic distance and P-values between Ili Uygur and 10 published populations showed that no statistically significant differences existed between the Ili Uygur population and the Kashi, Kashgar, and Kotan Uygur. Therefore, the Ili Uygur population has its own unique Uygur genetic characteristics that were different from the other ethnic populations of China.

Ethnic differences in spirometry measurements in China: Results from a large community-based epidemiological study.

No previous studies have examined differences in spirometry measurements among ethnic populations in China, and factors which may influence ethnic differences are unclear. Our study aimed to investigate whether forced expiratory volume in 1 s (FEV1 ) and forced vital capacity (FVC) differ among Han Chinese and other ethnic minorities in China. We recruited 7137 individuals aged 35-70 years from four areas of China inhabited by ethnic minority groups between 2007 and 2009. We conducted spirometry tests for all available participants, and compared FEV1 and FVC among Uygur, Hui, Mongolian, Dai and Han Chinese ethnicities, using nonlinear multiplicative regression models. A total of 2005 healthy never-smokers were enrolled in the analysis. For all ethnicities, spirometry values increased with height and decreased with age; FEV1 and FVC were consistently higher in males than in females. Compared with Han Chinese, FEV1 was 4.42% (95% CI: 2.11-6.78%) higher in Mongolians, 4.08% (95% CI: 1.33-6.76%) lower in Uygurs, 4.39% (95% CI: 1.33-7.35%) lower in Hui people and 4.72% (95% CI: 1.80-7.55%) lower in Dai people, after adjusted for potential confounders including height, age, sex and place of residence. We observed similar differences for FVC. We detected significant differences in spirometry measurements among ethnic populations in China. Such differences cannot be fully explained by demographic, anthropometric or socioeconomic factors, but may also be attributed to genetic background as well as indoor and outdoor environmental exposures that need further investigation.

Genetic polymorphisms of pharmacogenomic VIP variants in the Yi population from China

IntroductionDrug response and target therapeutic dosage are different among individuals. The variability is largely genetically determined. With the development of pharmacogenetics and pharmacogenomics, widespread research have provided us a wealth of information on drug-related genetic polymorphisms, and the very important pharmacogenetic (VIP) variants have been identified for the major populations around the world whereas less is known regarding minorities in China, including the Yi ethnic group. Our research aims to screen the potential genetic variants in Yi population on pharmacogenomics and provide a theoretical basis for future medication guidance. Materials and methodsIn the present study, 80 VIP variants (selected from the PharmGKB database) were genotyped in 100 unrelated and healthy Yi adults recruited for our research. Through statistical analysis, we made a comparison between the Yi and other 11 populations listed in the HapMap database for significant SNPs detection. Two specific SNPs were subsequently enrolled in an observation on global allele distribution with the frequencies downloaded from ALlele FREquency Database. Moreover, F-statistics (Fst), genetic structure and phylogenetic tree analyses were conducted for determination of genetic similarity between the 12 ethnic groups. ResultsUsing the χ2 tests, rs1128503 (ABCB1), rs7294 (VKORC1), rs9934438 (VKORC1), rs1540339 (VDR) and rs689466 (PTGS2) were identified as the significantly different loci for further analysis. The global allele distribution revealed that the allele “A” of rs1540339 and rs9934438 were more frequent in Yi people, which was consistent with the most populations in East Asia. F-statistics (Fst), genetic structure and phylogenetic tree analyses demonstrated that the Yi and CHD shared a closest relationship on their genetic backgrounds. Additionally, Yi was considered similar to the Han people from Shaanxi province among the domestic ethnic populations in China. ConclusionsOur results demonstrated significant differences on several polymorphic SNPs and supplement the pharmacogenomic information for the Yi population, which could provide new strategies for optimizing clinical medication in accordance with the genetic determinants of drug toxicity and efficacy.

Association Between P2RX7 Gene and Hepatocellular Carcinoma Susceptibility: A Case-Control Study in a Chinese Han Population.

BackgroundHepatocellular carcinoma (HCC) is one of the most common types of liver cancer. It is hypothesized that P2RX7 genetic polymorphisms have strong association with HCC susceptibility. Therefore, a case-control study was designed and performed to verify the association between P2RX7 gene polymorphisms and HCC susceptibility.Material/MethodsA total of 646 subjects were recruited in our study, including 323 HCC patients and 323 healthy controls. Five gene polymorphisms, −762C>T (rs2393799), 946G>A (rs28360457), 1513A>C (rs3751143), 1068G>A (rs1718119), and 1096C>G (rs2230911), were selected. Odds ratio (ORs) and 95% confidence interval (CI) were used to quantify the association between P2RX7 gene polymorphisms and the susceptibility to HCC. All tests were performed using SPSS 20 and a 2-sided P value of less than 0.05 was considered to be statistically significant.ResultsOur results suggest that allelic frequencies of these 5 SNPs all conformed to Hardy-Weinberg equilibrium (HWE). There was no significant difference in genotype and allele distributions of −762C>T and 1096C>G between the case group and the control group. However, an increased risk of HCC was associated with 946G>A (A vs. G: OR=1.48, 95%CI=1.09–2.01, P=0.013; GA+AA vs. GG: OR=1.46, 95%CI=1.03–2.07, P=0.033). A similar increased risk was associated with 1513A>C polymorphism (C vs. A: OR=1.37, 95%CI=1.05–1.79, P=0.021; AC+CC vs. AA: OR=1.40, 95%CI=1.01–1.93, P=0.041). On the other hand, a decreased risk of HCC was associated with gene polymorphism of 1068G>A (A vs. G: OR=0.68, 95%CI=0.51–0.91, P=0.010; GA+AA vs. GG: OR=0.68, 95%CI=0.49–0.96, P=0.027; AA vs. GG: OR=0.42, 95%CI=0.18–0.99, P=0.048).ConclusionsOur results suggest that 3 of the 5 polymorphisms of P2RX7 described above (1513A>C, 946G>A, and 1068G>A) are significantly associated with HCC susceptibility in a Chinese Han population. Studies with larger sample sizes are recommended to confirm whether our results will be applicable to different ethnic populations in China.

Towards better clinical laboratory diagnostic criteria for haemoglobin concentration: results from the Survey on Health Examination and Physiological Constants in China

BackgroundThe Survey on Health Examination and Physiological Constants is a programme of multidisciplinary studies designed to assess the health status and physiological constants of adults in China. Differences in physiological constants, such as height and body-mass index, exist among different ethnic populations in China but, for a long time, foreign standards have been used for the assessment of overweight and obesity. The goal of this project is to study reference intervals for physiological constants in different ethnic populations, so that these data can be used to enhance clinical diagnosis strategies and health promotion in China. MethodsA cross-sectional survey with multistage, stratified cluster design examines a representative sample of about 51 000 individuals (aged 20–80 years) from different ethnic populations in ten provinces in 2012–18. The survey is unique in that it combines personal interviews with standardised physical examinations, diagnostic procedures, and laboratory tests to obtain information about diagnosed and undiagnosed conditions; growth and development, including obesity, eyesight, bone density, and respiratory function; lifestyle; and exposure to risk factors. Written informed consent was obtained from all participants before data collection. The study was approved by the Bioethical Committee of the Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing, China (approval number 028–2013). FindingsHaemoglobin concentration has risen strikingly in a sample of healthy Chinese subjects (n=8818), as living standards improve in China. For haemoglobin concentration, 640 (56%) of 1137 male and 294 (18%) of 1670 female adults older than 20 years have exceeded the present clinical laboratory diagnostic criteria (120–160 g/L for men and 110–150 g/L for women) in the Han population, compared with 446 (38%) of 1163 men and 170 (11%) of 1580 women in the Bouyei population, and 406 (39%) of 1030 men and 216 (11%) of 1924 women in the Uygur population. Participants from other ethnic groups were excluded in the analysis. InterpretationWith the development of social economy and improvement of nutritional status in different ethnic populations in China, it is necessary to study the trends of change for some physiological constants and modify the related clinical diagnosis criteria. For example, such knowledge will improve diagnosis and treatment strategies of the related diseases to establish the normal reference value of haemoglobin among different ethnic populations in China. FundingThe study was supported by the National Science and Technology Pillar Program during the Twelfth Five-Year Plan Period sponsored by the Ministry of Science and Technology of China (Grant 2012BAI37B02) and the Key Program special for Science and Technology Foundation work (Grant 2013FY114100). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the abstract.

Development of a 9-locus X-STR multiplex PCR system for genetic analysis of three ethnic populations in China.

X-chromosome short tandem repeats (X-STR) analysis has been confirmed to be effective for kinship testing such as in deficiency paternity cases. The aim of this study was to develop a new multiplex polymerase chain reaction (PCR) system that can simultaneously amplify 9 X-STR loci (GATA172D05, DXS10159, DXS6797, HPRTB, DXS10079, DXS6789, DXS9895, DXS10146 and GATA31E08) in the same PCR reaction, and to obtain the database of the 9 X-STR loci in three ethnic populations in China. The genetic data of 815 (404 females and 411 males) unrelated Han Chinese from Hubei province, and Yi and Zhuang Chinese from Yunnan province were analyzed by using this multiplex system. The results showed that a total of 93 alleles for all these loci were found, and 7 to 20 alleles for each locus were observed. All of the analyzed loci were in agreement with Hardy-Weinberg equilibrium after Bonferroni correction in the three studied populations. The polymorphism information content (PIC) and power of discrimination (PD) in females were 0.6566-0.8531 and 0.8639-0.9684, respectively. Pairwise comparisons of allele frequency distribution showed significant differences in the most of these loci between different populations. The results indicate that this multiplex system is very useful for forensic analysis of different ethnic populations in China.

More about "Research in Ambiguous, Conflictual, and Changing Contexts": Studying Ethnic Populations in China, Xi'an to Urumqi

A recent article in this journal discusses ways to manage uncertainty when the research field abruptly and significantly changes on researchers working inside their own society (Kacen &amp; Chaitin, 2006). Our essay extends this discussion by asking: How do researchers manage ambiguous, conflictual, and rapidly changing events when they engage in study outside their own society? We describe three aspects of our data collection experience that coincidentally began one week before the Urumqi city, Xinjiang, China, riots of 2009 in which over 200 people were reported as killed and several thousand injured: (a). our original research agenda and the uncertain situation in Xinjiang in recent years; (b). how we modified our research project and approach to data collection; and (c). what we learned that can contribute to knowledge about conducting research under ambiguous, potentially unstable and rapidly changing socio-political conditions.

Population pharmacokinetic of losartan and its active metabolite E-3174 in five different ethnic populations of China

Population pharmacokinetic of losartan and its active metabolite E-3174 in five different ethnic populations of China

Comparative pharmacokinetics of zolpidem tartrate in five ethnic populations of China

The objective of this study was to evaluate the difference in the pharmacokinetics of zolpidem tatrate in subjects from five Chinese ethnicities (Han, Mongolian, Uigur, Korean and Hui). Healthy subjects (10 Hans, 10 Mongolians, 10 Uigurs, 10 Koreans and 9 Huis) were recruited and each received a 10mg tablet-dose of zolpidem tatrate. A total of 12 plasma samples were collected over a 12h period after administration. The concentrations of zolpidem in plasma were determined by an HPLC-FLU method, after which the pharmacokinetic parameters were determined using DAS 2.0 software and analyzed by SPSS 16.0 software. After normalization by weight, no differences were noted in the pharmacokinetic parameters of zolpidem tatrate among the five ethnic groups (P>0.05). However, there were statistically significant differences between males and females for the pharmacokinetic parameters (P<0.05). The metabolism of zolpidem tatrate in males was faster than in females. Results indicate that ethnicity has no significant impact on the pharmacokinetics of zolpidem tatrate after a single oral dose in healthy Chinese subjects. However, an effect of gender on the pharmacokinetics of zolpidem tatrate can be noted.

The polymorphisms of 12 X-STR loci in six ethnic populations in China

To explore the genetic polymorphisms of 12 X-STR loci for Guangdong Han population and other five minor ethnic populations (Tibetan, Mongolian, Korean, Uighur and Hui) in China, 1298 samples from unrelated individuals of these 6 ethnic populations were amplified with Investigator™ Argus X-12 multiplex PCR system. 238 alleles were observed totally, which included 66 off-ladder alleles. All the loci showed no difference in sex-related allele frequency. The combined discrimination power (CDP) was ranged from 0.999999996 to 0.999999999 in males for these 6 populations and the CDP value in females was all reached 0.999999999. The combined mean exclusion chance (CMEC) was ranged from 0.999998336 to 0.999999926 in duo paternity cases and 0.999999987 to 0.999999999 in trio paternity cases in 6 populations. All of the 12 loci were in accordance with Hardy–Weinberg equilibrium after Bonferroni's correction. Linkage disequilibrium was observed for DXS10103–DXS10101 pair in 6 populations. Significant differences between all pairs of populations were observed at 2–11 loci respectively. The phylogenetic tree consisted of two main branches for these 6 populations, which was consistent with the geographic and historic distributions.

Pharmacokinetics of losartan and its active carboxylic acid metabolite E-3174 in five ethnic populations of China

Interethnic variability in drug pharmacokinetics is well known. Our aim was to investigate whether the pharmacokinetics of losartan and its active carboxylic acid metabolite E-3174 vary between subjects of five Chinese ethnicities (Han, Mongolian, Korean, Hui and Uigur). Fifty healthy subjects (five men and five women of each ethnicity) were recruited, and each received 50-mg dose of losartan in tablet form. Fourteen blood samples were collected for each subject over a 24-h period after drug administration. The concentrations of losartan and its active carboxylic acid metabolite E-3174 in plasma were determined by high-performance liquid chromatography/fluorescence (HPLC/FLU) method, and the pharmacokinetic parameters were calculated by DAS 2.0 software and compared by SPSS 16.0 software. Pharmacokinetic parameters, including area under the curve from 0h to the last measured point 24h [AUC((0-24))], area under the curve from 0h to infinite time [AUC((0-∞))], peak plasma concentration (C(max) ), time to reach C(max) (t(max) ), oral clearance (CL), oral volume of distribution (V(d)) and elimination half-life (t(1/2) ), were determined following a single oral dose of losartan. The t(1/2) values of losartan and its active carboxylic acid metabolite E-3174 showed significant differences across the five ethnicities. After normalization by weight, no ethnicity-based difference was noted in the pharmacokinetic parameters of losartan. However, there were significant differences in C(max) and V(d) of the active carboxylic acid metabolite E-3174 for Han and Mongolian subjects, compared with the other three ethnic groups. There was a high linear correlation between weight and C(max) , AUC((0-24)) , AUC((0-∞)) , CL and V(d) . Ethnicity was associated with significant differences in the single-dose pharmacokinetics of losartan's active carboxylic acid metabolite E-3174 in healthy subjects of the five main ethnic groups in China.

Polymorphisms of Glutathione S-transferases Omega-1 among ethnic populations in China

BackgroundGlutathione S-transferases (GSTs) is a genetic factor for many diseases and exhibits great diversities among various populations. We assessed association of the genotypes of Glutathione S-transferases Omega-1 (GSTO1) A140D with ethnicity in China.ResultsPeripheral blood samples were obtained from 1314 individuals from 14 ethnic groups. Polymorphisms of GSTO1 A140D were measured using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Logistic regression was employed to adjustment for regional factor. The frequency of GSTO1 140A allele was 15.49% in the total 14 ethnic populations. Compared to Han ethnic group, two ethnic populations were more likely to have AA or CA genotype [odds ratio (OR): 1.77, 95% confidence interval (95% CI): 1.05–2.98 for Uygur and OR: 1.78, 95% CI: 1.18–2.69 for Hui]. However, there were no statistically significant differences across 14 ethnic groups when region factor was adjusted. In Han ethnicity, region was significantly associated with AA or CA genotype. Han individuals who resided in North-west of China were more likely to have these genotypes than those in South of China (OR: 1.63, 95% CI: 1.21–2.20).ConclusionThe prevalence of the GSTO1 140A varied significantly among different regional populations in China, which showed that geography played a more important role in the population differentiation for this allele than the ethnicity/race.

CYP2C19 GENOTYPE AND OMEPRAZOLE HYDROXYLATION PHENOTYPE IN CHINESE LI POPULATION

1. CYP2C19 is a polymorphism of cytochrome P450, which is responsible for the metabolism of many drugs. The genetic polymorphism shows interethnic variation and it has been demonstrated that the frequency of poor metabolizers (PM) and the distribution of alleles of CYP2C19 vary among Chinese ethnic nationalities. The aim of the present study was to investigate the incidence of CYP2C19 polymorphism in the Chinese Li population. 2. One hundred and sixty-five unrelated healthy Li subjects were identified with respect to CYP2C19 by genotype and phenotype analysis. A polymerase chain reaction-restriction fragment length polymorphism method was performed for genotyping. The plasma concentrations of omeprazole and 5-hydroxyomeprazole were assayed by reversed-phase high-performance liquid chromatography and the omeprazole hydroxylation index (HI) was determined. 3. The frequency distribution of omeprazole HI is bimodal and the antimode for HI was estimated to be 5.6. The prevalence of phenotypic PM in the Li population was 16.6% (13.7-19.5; 95% CI). Genotype analysis revealed that the frequencies of the CYP2C19*1, *2 and *3 alleles in the Li population were 0.617 (0.590-0.644; 95% CI), 0.353 (0.327-0.379; 95% CI) and 0.031 (0.021-0.041; 95% CI), respectively. The frequency of genotypic PM was 14.7% (11.9-17.5; 95% CI), which almost agreed with the frequency of phenotypic PM. Omeprazole HI was significantly different among the different genotype groups (P < 0.05). 4. The present study revealed that the incidence of the CYP2C19*1, *2 and *3 alleles in Chinese Li population is different to that in other ethnic populations of China. There was an obvious relationship between CYP2C19 genotype and omeprazole hydroxylation phenotype, and about 90% of phenotypic PM can be explained by the CYP2C19*2 and *3 alleles.

Allele frequencies for six miniSTR loci of two ethnic populations in China

Allele frequencies and forensic parameters for the six miniSTR loci D1S1677, D2S441, D4S2364, D10S1248, D14S1434, and D22S1045 were investigated in two ethnic China populations. Allele frequencies for each locus are reported along with nomenclature based on sequence analysis. The polymerase chain reaction (PCR) products contained within the six loci were less than 125 bp in size. All loci showed a moderate degree of polymorphism with observed heterozygosity >0.7 except for D4S2364 and did not show departures from Hardy–Weinberg equilibrium for all two populations. The accumulated powers of discrimination for the six loci were 0.999994, and 0.999996 for Han ethnic, and Korean ethnic minority group, respectively.