Han Population In China Research Articles

Clinical and molecular insights into Glanzmann's thrombasthenia in China.

Glanzmann's thrombasthenia (GT) is a rare bleeding disorder characterized by spontaneous mucocutaneous bleeding. The disorder is caused by quantitative or qualitative defects in integrin αIIbβ3 (encoded by ITGA2B and ITGB3) on the platelet and is more common in consanguineous populations. However, the prevalence rate and clinical characteristics of GT in non-consanguineous populations have been unclear. We analyzed 97 patients from 93 families with GT in the Han population in China. This analysis showed lower consanguinity (18.3%) in Han patients than other ethnic populations in GT-prone countries. Compared with other ethnic populations, there was no significant difference in the distribution of GT types. Han females suffered more severe bleeding and had a poorer prognosis. We identified a total of 43 different ITGA2B and ITGB3 variants, including 25 previously unidentified, in 45 patients. These variants included 14 missense, 4 nonsense, 4 frameshift, and 3 splicing site variants. Patients with the same genotype generally manifested the same GT type but presented with different bleeding severities. This suggests that GT clinical phenotype does not solely depend on genotype. Our study provides an initial, yet important, clinical and molecular characterization of GT heterogeneity in China.

A retrospective investigation of HLA-B*5801 in hyperuricemia patients in a Han population of China.

Hyperuricemia and gout have become increasingly prevalent in China. Allopurinol is an effective urate-lowering therapy, but it has severe side effects. HLA-B*5801 is highly associated with the allopurinol-induced toxic epidermal necrolysis and Stevens-Johnson syndrome. In this retrospective report, we had genotyped HLA-B*5801 in 253 cases of hyperuricemia and gout patients in a Han population in Shenzhen and analyzed the clinical management of medications. We found 30 carriers of the HLA-B*5801 allele in 253 cases of hyperuricemia or gout patients in the population (11.9%). Allopurinol was prescribed in both HLA-B*5801-positive and HLA-B*5801-negative groups. The evaluation of four models with or without genetic screening and management of allopurinol or febuxostat indicated that the HLA-B*5801 screening had significant cost benefit for clinical management. For appropriate management and cost-effectiveness, the HLA-B*5801 allele should be screened in all patients with hyperuricemia and gout in the Chinese population.

Forensic Application of SiFaSTR™ 23plex DNA ID System in Han Population of Eastern China

To investigate the genetic polymorphism of 21 autosomal STR loci and DYS391 locus of SiFaSTR™ 23plex DNA ID system in Han population of eastern China and to evaluate its application value in forensic science. Typing test of 2 000 unrelated individuals was performed using SiFaSTR™ 23plex DNA ID system. The population genetic parameters of STR loci were statistically analysed. A total of 3 198 parentage confirmed cases were detected with that system and the mutation conditions were observed in 21 autosomal STR loci. All the 21 autosomal STR loci showed no significant departure from Hardy-Weinberg equilibrium （P>0.05）. The Ho ranged from 0.617 5 to 0.927 0. The DP ranged from 0.796 4 to 0.986 9, as well as the PIC distributed from 0.561 1 to 0.912 3. The CDP was 0.999 999 999 999 999. The CPEduo was 0.999 997 431 701 961, while CPEtrio was 0.999 999 999 654 865. Five alleles were detected in DYS391 locus, with the allele frequency from 0.004 0 to 0.729 0, and GD was 0.418 9. Except D13S317 and D10S1248, seventy-six mutation events were observed at the rest nineteen autosomal STR loci. Among them, seventy-five （98.68%） were one step mutation, and only one （1.32%） was three steps mutation. The mutation rate ranged from 0.246 5×10⁻³ to 2.711 4×10⁻³, and the averaged mutation rate was 0.892 1×10⁻³ （95% CI： 0.70×10⁻³-1.10×10⁻³）. In 33 trio mutation cases, the proportion of the paternal mutation and the maternal mutation was 2.09:1. The involved STRs are highly polymorphic in Eastern Han population with acceptable mutation rates by the SiFaSTR™ 23plex DNA ID system, which is suitable for paternity testing and individual identification.

Investigation of 12 X-STR loci in Mongolian and Eastern Han populations of China with comparison to other populations

Due to the unique inheritance pattern, X-chromosomal short tandem repeats (X-STRs) have several advantages in complex kinship cases, such as deficiency cases or grandparent-grandchild and half-sisters testing. In our study, 541 unrelated individuals gathered from Mongolian and Eastern Chinese Han populations were successfully genotyped using the Investigator Argus X-12 kit. We calculated allele/haplotype frequencies and other forensic parameters of the two populations and further explored their genetic distance with already published Chinese populations and six global populations. Our results showed that the 12 X-STR markers were highly informative in the two populations when compared with nine other Chinese populations: significant differences were found at several loci. Geographically neighboring populations or different ethnic groups within the same area appeared to have closer evolutionary relationships. We also analyzed population genetic structure by performing clustering with the STRUCTURE program and Principal Coordinate Analysis (PCoA), and we found that the Chinese and other populations enrolled in this study could be distinguished. Furthermore, Mongolian males were distinguishable from the other studied males by a moderate genetic distance. Our study also expanded the X-STR database, which could facilitate the appropriate application of the 12 X-STR markers in the forensic field in China.

Population genetic data of Investigator HDplex markers in Han population from Southern China.

Allele frequencies and forensic statistical parameters for 12 STRs contained in the Investigator HDplex Kit (D2S1360, D3S1744, D4S2366, D5S2500, SE33, D6S474, D7S1517, D8S1132, D10S2325, D12S391, D18S51, and D21S2055) were estimated from a sample of 503 unrelated individuals from the Guangdong Han population of South China. No significant departure from the Hardy-Weinberg equilibrium or genetic linkage disequilibrium was observed (after Bonferroni correction). The expected heterozygosity ranged from 0.6411 to 0.9414. The allele frequencies in Guangdong Han significantly differed from that in Shanghai Han, Korea, Northern Italian, Swedish, Dutch, Somalia, and Argentinean populations at 2 to 12 loci. The markers included in the kit have highly polymorphic information that could be used for forensic DNA analysis as potential tools for differentiating Han population from other populations in the world.

Correction to: Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China.

The original version of this article unfortunately contained an error.

Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China.

Neural tube defects (NTDs) are one of the most prevalent and the most severe congenital malformations worldwide. Studies have confirmed that folic acid supplementation could effectively reduce NTDs risk, but the genetic mechanism remains unclear. In this study, we explored association of single nucleotide polymorphisms (SNP) within folate metabolic pathway genes with NTDs in Han population of Northern China. We performed a case-control study to compare genotype and allele distributions of SNPs in 152 patients with NTDs and 169 controls. A total of 16 SNPs within five genes were genotyped by the Sequenom MassARRAY assay. Our results indicated that three SNPs associated significantly with NTDs (P<0.05). For rs2236225 within MTHFD1, children with allele A or genotype AA had a high NTDs risk (OR=1.500, 95%CI=1.061~2.120; OR=2.862, 95%CI=1.022~8.015, respectively). For rs1801133 within MTHFR, NTDs risk markedly increased in patients with allele T or genotype TT (OR=1.552, 95%CI=1.130~2.131; OR=2.344, 95%CI=1.233~4.457, respectively). For rs1801394 within MTRR, children carrying allele G and genotype GG had a higher NTDs risk (OR=1.533, 95%CI=1.102~2.188; OR=2.355, 95%CI=1.044~5.312, respectively). Our results suggest that rs2236225 of MTHFD1 gene, rs1801133 of MTHFR gene and rs1801394 of MTRR gene were associated with NTDs in Han population of Northern China.

Association of rs2271037 and rs3749585 polymorphisms in CORIN with susceptibility to hypertension in a Chinese Han population: A case-control study

Corins are membrane-bound protease that regulates blood pressure by activating the natriuretic peptides. These pro-atrial natriuretic peptide convertases are essential for sodium homeostasis and normal blood pressure. CORIN variants have been identified in humans and other animals, but no studies of CORIN polymorphisms have been conducted in northeastern China. This study aims to investigate the association of 2 single nucleotide polymorphisms (SNPs) in CORIN (rs2271037 and rs3749585) with hypertension, as well as their potential interactions with some risk factors of hypertension in a Han population of northeastern China. A case-control study, including 402 patients with hypertension and 406 participants with normal blood pressure, was conducted in Liaoning province. SNP genotyping was carried out by high resolution melting (HRM) after polymerase chain reaction amplifications. Since rs3749585 is located in 3′ untranslated region (UTR) of CORIN, in silico analysis was used to predict target micro RNAs on TargetScan, miRanda, and DIANA-microT. As a result, mutant T allele in rs2271037 (odds ratio [OR], 1.693; 95% confidence [CI], 1.528-1.877; p < 0.001) and C allele in rs3749585 (OR, 1.114; 95% CI 1.011-1.227; p = 0.029) increased the risk of hypertension, comparing with wild G allele and T allele, respectively. Patients with genotype TT (OR, 10.209; 95% CI, 6.414-16.250; p < 0.001) and GT (OR, 1.730; 95% CI, 1.226-2.443; p = 0.002) have higher risk of hypertension than those with genotype GG. SNP rs2271037 was significantly associated with susceptibility to hypertension in all genetic models (dominant model: OR, 2.879; 95% CI, 2.080–3.986; p < 0.001; recessive model: OR, 7.159; 95% CI, 4.779–10.724; p < 0.001; additive model: OR, 1.535; 95% CI, 1.163–2.027; p = 0.002). SNP rs3749585 was significantly correlated with hypertension susceptibility only in dominant model (OR, 1.533; 95% CI, 1.073–2.189; p = 0.019), but not in recessive model (OR, 1.220; 95% CI, 0.906–1.644; p = 0.191) or additive model (OR, 0.915; 95% CI, 0.694–1.205; p = 0.527). After adjusting for age, gender, body mass index (BMI), smoking, low-density lipoprotein cholesterol, and serum sodium level in logistic models, the same statistical results were obtained. Interaction study showed the association between CORIN polymorphisms and hypertension could be changed by overweight (BMI ≥ 25 kg/m2). In silico analyses implicated hsa-miR-495 as a target miRNA that potentially interacts with the 3′ UTR of CORIN. In conclusion, polymorphisms of rs2271037 and rs3749585 in CORIN were significantly associated with hypertension in a Han population of northeastern China. The mutant-type T allele of rs2271037 and C allele of rs3749585 might increase the susceptibility to hypertension in this population.

Genetic analysis of 17 Y-STR loci from 1026 individuals of Han populations in Jilin Province, Northeast China.

In this study, 17 Y-chromosomal short tandem repeats (Y-STRs) were analyzed in 1026 male individuals of Han populations in Changchun City, Jilin Province, Northeast China. The haplotype diversity is 0.99892. The Changchun Han population is close to most Han populations and different from most other minority populations of China. Additionally, the Changchun Han show more affiliations with Han populations in North and Northeast China. These data provide a reference for the Y-STR database in Jilin Province, and they may be valuable for population genetic analysis.

Influence of genetic polymorphisms of IL23R, STAT3, IL12B, and STAT4 on the risk of aplastic anemia and the effect of immunosuppressive therapy

Studies have suggested that IL-23/STAT3 and IL-12/STAT4 signaling pathways associate with aplastic anemia (AA) occurrence. Polymorphisms in pathway-related genes may contribute to AA risk. In the current study, we investigated the association between polymorphisms in genes of IL23R, STAT3, IL12B, and STAT4 and occurrence, severity, and immunosuppressive outcome of AA in the Han population in southwest China. In the current 164 AA cases and 211 controls study, we found T allele and TT genotype of rs7574865 were more frequent in the cases than that in the controls. In the additive model, individual carrying rs7574865 T allele demonstrated a 37% (OR (95% CI) = 1.37 (1.02-1.85), Pper = 0.036) increased AA risk. In the recessive model, carrier with rs7574865 TT genotype showed a 2.08-fold increased AA risk (OR (95% CI) = 2.08 (1.14-3.70), Pper = 0.017). Additionally, we showed that G allele and GG genotype of rs11209032 were more frequent in the 88 non-severe AA cases than that in the 76 severe AA ones. Our study also found G allele and GG genotype of rs11209032, and GG-genotype of rs744166 associated with the immunosuppressive therapy outcome in AA patients. Current study results support that functional STAT4 (rs7574865), IL23R (rs11209032), and STAT3 (rs744166) variants may associate with occurrence, severity, and immunosuppressive outcome of AA in the Han population in southwest China.

Association of IL-18 polymorphisms with risk of polycystic ovary syndrome in a Han population of China

We aimed to investigate the association of two SNPs in the promoter region of IL-18 (IL-18-607C/A rs1946518 and -137G/C rs187238) with the risk of PCOS in a Chinese Han population. A total of 210 patients with PCOS and 408 subjects without PCOS were selected between June 2015 and December 2016. The genotyping of IL-18-607C/A rs1946518 and -137G/C rs187238 polymorphisms was carried out by an iPlex GOLD SNP genotyping analysis using the Sequenom MassARRAY® System. Unconditional multivariate logistic regression analysis was taken to calculate the relationship of IL-18-607C/A rs1946518 and -137G/C rs187238 polymorphisms with risk of PCOS. We found that BMI ≥ 24 (OR=2.78, 95% CI=1.85-4.17), ever smoking (OR=2.51, 95% CI=1.08-5.79) and ever drinking (OR=3.64, 95% CI=2.33-5.69) were associated with higher risk of PCOS. Those carrying the CC genotype were associated with 2.40 fold risk of developing PCOS (OR=2.40, 95% CI=1.22-4.72), and the GC+CC genotype displayed an increased risk of PCOS (OR=2.34, 95% CI=1.23-4.48). We suggest that IL-18-137G/C could be considered as a predictive factor for the pathogenesis of PCOS in the Han population of China.

Association between the SNPs of the TOB1 gene and gastric cancer risk in the Chinese Han population of northeast China.

The TOB1 (ErbB-2,1) gene is an anti-proliferative factor that has the potential to regulate cell growth and encodes a member of the transducer of erbB-2/B-cell translocation gene protein. The association between the polymorphisms of the TOB1 gene and gastric cancer (GC) risk is still unclear. In this study, 506 GC cases and 548 healthy controls (HCs) were collected to evaluate the association between the eleven SNPs (rs35220381, rs12950561, rs7221352, rs61482741, rs9303568, rs34700818, rs12949115, rs9903822, rs12601477, rs11656976 and rs4626) of the TOB1 gene and GC risk in the population of northeast China. The results showed that there were significant associations of haplotype GCCTTGC, haplotype ATCTTGG, and haplotype GCCACGC with GC risk (P < 0.05, P < 0.001, and P <0.001, respectively). The association between rs12601477 GA+AA genotypes and GC risk was significant among individuals older than 58 (adjusted OR=1.53, 95% CI=1.05-2.22, P< 0.05). The association between rs4626 AG+GG genotypes and GC risk was significant among individuals older than 58 (adjusted OR=1.54, 95% CI = 1.03-2.28, P<0.05). The rs34700818 CT+TT genotypes were associated with a significantly increased risk of T3-T4 (CT+TT vs CC, adjusted OR=1.71, 95% CI= 1.01-2.88, P<0.05) and TNM stage II (CT+TT vs CC, adjusted OR=2.40, 95% CI =1.27-4.52, P<0.01). The rs61482741 CG+GG genotypes were also associated with a significantly increased risk of T3-T4 (CG+GG vs CC, adjusted OR=1.71, 95% CI = 1.01-2.88, P<0.05) and TNM stage II (CG+GG vs CC, adjusted OR=2.40, 95% CI=1.27-4.52, P<0.01). The results suggest that four SNPs (rs12601477, rs4626, rs34700818 and rs61482741) of the TOB1 gene play an important role in the occurrence and development of GC in the Chinese Han population of northeast China.

Acquired melanocytic naevus phenotypes and MC1R genotypes in Han Chinese: a cross-sectional study.

BackgroundEarly detection and treatment are the most important elements in reducing the incidence of melanoma deaths. Acquired melanocytic naevi (AMN) are well-known precursors of melanoma but most of our knowledge on the clinico-dermoscopic phenotypes of AMN is based on studies in European-background populations, particularly American and Australian populations. There has been little research in Chinese Han populations on clinico-dermoscopic variability of naevi or how naevi are affected by melanoma-linked variants of the melanocortin 1 receptor (MC1R) gene.MethodsClinical and dermoscopic features of 448 AMN in 115 patients from the Han ethnic group in mainland China were described. Germline polymorphisms in MC1R were determined for 98 of these patients.ResultsAMN were predominantly found on the head and neck. Dermoscopic patterns observed were nonspecific, reticular, globular, and parallel furrow, with most AMN having a nonspecific pattern. There were no associations between MC1R polymorphisms and clinical or dermoscopic features of AMN.DiscussionOur results provide evidence that AMN in the Han population in China have similar dermoscopic patterns to those in European populations, but are present in much lower numbers. As there were no associations between clinical or dermoscopic features of AMN and MC1R polymorphisms, further studies should focus on candidate gene associations with AMN features and the risk of melanoma, with larger sample sizes and comparisons to AMN in other populations.

The analysis of correlation between single nucleotide polymorphism at Atg7 rs14016 and Parkinson's disease

Objective To investigate the association between rs14016(19+31C/T) polymorphisms of autophagy-related genes 7 (Atg7) and Parkinson's disease (PD) in Han population in China. Methods Totally 123 patients with Parkinson's disease (PD) (case group) and 101 synchronized health controls (control group) were selected from Chinese Han population between January 2013 and July 2016.A single nucleotide polymorphism (SNP) of rs14016 of Atg7 gene was detected by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis.After gene sequencing for genotyping and detection of alleles, genotype and allele frequency distributions were analyzed in the two groups. Results The frequency distributions of TT genotype and T alleles were 17.9% (22/123) and 41.1% (101/246) in the case group, and 5.9% (6/101) and 31.2% (63/202) in the control group, respectively.The difference in genotype frequencies between the two groups was statistically significant (χ2=7.236, P=0.007, OR=3.01, 95% CI: 1.27-7.14). The frequencies of T and C alleles were 41.1% (101/246) and 58.9% (145/246) respectively in the case group, and 31.2% (63/202) and 68.8% (139/202) in the control group (χ2=4.655, P=0.031, OR=1.32, 95%CI: 1.02-1.70), with the statistically significant difference in the allele.The TT genotype of rs14016 showed statistical significance between the two groups by logistic regression analysis (OR=3.40, 95%CI: 1.32-8.80, P=0.012). Conclusions The T allele and TT genotype at the rs14016 of Atg7 gene might be associated with PD, and might increase the risk for suffering from PD, which is worthy of further fully researches. Key words: Autophagy-related genes 7; Polymorphism, single nucleotide; Parkinson disease; Autophagy

Apolipoprotein E polymorphisms are associated with ischemic stroke susceptibility in a Northwest China Han population.

Ischemic stroke (IS), the leading neurology cause of death and disability worldwide, is influenced by gene polymorphisms. To explore the association between IS and Apolipoprotein E (APOE) gene polymorphisms, a case–control study containing 513 IS patients and 514 controls without IS was conducted in a Northwest China Han population. MassARRAY iPLEX system was applied to determine the APOE polymorphisms according to the alleles of two single nucleotide polymorphisms (SNPs) of APOE, rs429358, and rs7412. The results showed that rs429358 and rs7412 were in Hardy–Weinberg equilibrium (HWE) in both cases and controls groups. APOE ε4 allele, ε4/ε4 genotype, and ε4-containing genotypes were associated with IS. According to the results of Trial of ORG 10172 in Acute Stroke Treatment (TOAST) classification system, APOE ε2 allele, ε4 allele, and ε4/ε4 genotype were associated with large artery atherosclerosis IS subtypes. In addition, the results also indicated that the ε4 allele related to undetermined IS and ε4/ε4 genotype was related to small vessel disease IS. Compared with subjects with non-ε4-containing genotypes, the total cholesterol (TC) and low-density lipoprotein (LDL) level in blood and the proportion of cardiopath history were higher in all subjects with ε4-containing genotypes. Besides, the triacylglycerides (TG) level in blood was higher in controls with ε4-containing genotypes. In conclusion, in a Northwest China Han population, APOE ε4 allele was associated with blood lipid level. The TC and LDL levels were the independent risk factors for IS. APOE was a risk gene for IS, but not independent, especially for large artery atherosclerosis IS.

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.

Clinical relevance of peroxisome proliferator-activated receptor-γ gene polymorphisms with sepsis.

Peroxisome proliferator-activated receptor-γ (PPARγ) is a regulator of inflammation. This study aimed to explore associations between PPARγ gene single-nucleotide polymorphisms (SNPs) and susceptibility to and clinical outcome of sepsis in the North China Han population. This study included 303 patients with sepsis and 303 controls. We conducted genetic typing for 13 common PPARγ gene SNPs (improved multiplex ligation detection reaction), linkage disequilibrium mapping, and haplotype inference. Associations between SNP genotypes/haplotypes and sepsis susceptibility and outcome (septic shock, organ dysfunction, or death) were assessed using unconditional logistic regression analysis. For rs2972164, patients with genotypes CT/CT+TT had higher risk of sepsis than genotype CC (odds ratio [95% CI]: 1.74 [1.05-2.86], P=.03 and 1.72 [1.06-2.80], P=.026, respectively); the T allele was associated with increased sepsis risk compared with the C allele (1.64 [1.04-2.58], P=.033). For rs1801282, genotypes CG/CG+GG had lower risk of sepsis than genotype CC (0.55 [0.33-0.92], P=.024 and 0.57 [0.35-0.95], P=.03, respectively); the G allele was associated with decreased sepsis risk compared with the C allele (0.62 [0.39-1.01], P=.055). For rs4135275, genotypes AG/AG+GG had higher risk of severe organ dysfunction (multiple organ dysfunction syndrome score >8) than genotype AA (2.66 [1.16-6.09], P=.038 and 2.21 [1.00-4.85], P=.042, respectively). Haplotype TAT (rs2972164, rs4684846, and rs17036188) was associated with increased sepsis risk (1.66 [1.03-2.67], P=.038). No mutation was correlated with septic shock or death. PPARγ gene polymorphisms may play a role in the occurrence and progression of sepsis in the North China Han population.

Study on haplotype diversity of Y-STR loci of the Kinh population in Vietnam

The study was carried out to determine allele frequencies of Y-STRloci in order to apply in the statistical validation of forensic case and paternal lineages. 17 Y-STR loci were co-amplified (including: DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, and GATAH4) using DNA genome extracted from blood, hair root and finger nail samples of 205 unrelated men of Kinh population in the North and South of Vietnam.&#x0D; The studied population shows that a relatively close relationship between the Jiangxi (Han) and Jiangsu (Han) populations in China and the Han population in Taiwan. Compared to other population with geographic locations far removed from Vietnam and historically and culturally diverse, there are significant differences as with Americans (Rst = 0.3836, P &lt;0.0001); The Germans (Rst = 0.3562, p = -1.0000); The Romans (Rst = 0.2918, p = -1.0000) or Ethiopian (Rst = 0.3139, p = -1.0000) and particularly significant differences with Nigerians (Rst = 0.5084, p = -1.0000).&#x0D; The genetic diversity indexes at each locus and the haplotypes were examined; Genetic distances between the King population in this study and neighboring populations and geographically remote populations are consistent with the migration history.&#x0D;

Haplotype-based association of renin gene polymorphisms with essential hypertension in Han population of northern china.

Introduction:The renin gene has been suggested as a good candidate in the study of genetic mechanism of essential hypertension. However, studies on the contribution of renin gene polymorphisms to essential hypertension, have not had consistent outcomes. The purpose of the present study is to explore the association of renin gene polymorphisms with essential hypertension in the Han population of northern China.Methods:A case-control study was conducted among 3090 Han farmers (1533 essential hypertension patients and 1557 normotensives). Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism and polymerase chain reaction-sequencing.Results:The genotypic and allelic distributions of rs2368564 in essential hypertension and control was significant statistically (p<0.001). The allelic distribution of rs10900557 showed marginal statistical significance (p=0.048). There were no significant differences in other genotypic and allelic distributions (p>0.05). In the haplotypes comprised by the six single-nucleotide polymorphisms, there were differences in the distribution of haplotypes A-T-C-G-C-A, A-T-C-G-C-G, G-C-T-G-T-A and G-C-T-G-T-G in both groups, and their differences reached to significant levels, respectively. After having corrected for false discovery rate, this association still remained significant.Conclusions:The current study provides evidence for a possible association of renin gene polymorphisms with essential hypertension in a Han population of northern China.

Prevalence of Kaposi\u2019s sarcoma-associated herpesvirus in Uygur and Han populations from the Urumqi and Kashgar regions of Xinjiang, China

Kaposi’s sarcoma-associated herpesvirus (KSHV) is the infectious etiologic agent associated with Kaposi’s sarcoma (KS), primary effusion lymphoma, and multicentric Castleman disease. It has been shown that high KSHV prevalence and high incidence of both classic KS and AIDSassociated KS are found mostly among people of Uygur ethnicity in Xinjiang, while people of Han ethnicity in Xinjiang have a higher KSHV seroprevalence than those of other Han populations in mainland China. However, it is still unclear why there is such geographical and population variation in KSHV distribution in China. In this work, we focused on the populations in the Kashgar region and Urumqi area, where a total of 1294 research subjects were randomly selected to investigate the potential correlation between KSHV prevalence and different ethnicities in endemic areas of Xinjiang, and to determine risk factors that may affect KSHV infection rates or KS incidence. We identified a high seroprevalence of KSHV and high peripheral blood DNA infection in the general Uygur and Han populations in both Urumqi and Kashgar regions of Xinjiang, and determined that advancing age, low education level, and stationary population status affect KSHV infection rates. Further, KSHV-positive Uygur participants were shown to have higher prevalence of neutralizing antibodies and neutralizing antibody titers than KSHV-positive Han participants.