Application of 3D printing percutaneous guide plate in closed reduction and cannulated screw internal fixation of femoral neck fracture / 中国骨伤

OBJECTIVE@#To investigate the application of 3D printing percutaneous surgical guide plate in closed reduction and cannulated screw internal fixation of femoral neck fracture.@*METHODS@#The clinical data of 12 patients with femoral neck fracture from March 2019 to March 2022 were retrospectively analyzed. Patients were divided into observation group and control group according to different operation plans, with 6 cases in each group. The observation group received percutaneous operation guide plate assisted closed reduction and hollow screw internal fixation, while the control group received closed reduction and hollow compression screw internal fixation. The operation time, intraoperative blood loss, fluoroscopy times, and Kirschner needle puncture times were compared between two groups. The location of screws were recordedon postoperative X-ray films, follow-up time, time of complete fracture healing, Harris score of hip joint and the incidence of complications were recorded on postoperative X-ray films.@*RESULTS@#The operation time of observation group (32.17±6.18) min was shorter than that of control group (53.83±7.31) min (P<0.05). The amount of intraoperative bleeding in the observation group (18.33±2.94) ml was less than that in the control group (38.17±5.56) ml(P<0.05). The times of fluoroscopy in the observation group (7.50±1.05) were less than those in the control group (21.00±4.82) (P<0.05). The number of Kirschner needle punctures (8.00±0.63) in observation group was less than that in control group (32.67±3.08) (P<0.05). The follow-up time was(12.88±0.74) months in observation group and (12.83±0.72) months in control group, there was no significant difference between two groups (P>0.05). One year after operation, Harris score of hip joint in the observation group was(82.00±4.52) points, while that in the control group was(81.00±3.41) points, there was no significant difference between two groups(P>0.05). The time of complete fracture healing in the observation group was (7.50±1.05) months, while that in the control group was (7.67±1.21) months, there was no significant difference between two groups(P>0.05). The parallelism of the screws in the observation group was (0.50±0.11) ° and (0.76±0.15) °, which were lower than that in the control group (1.57±0.31) ° and (1.87±0.21) ° (P<0.05). The screw distribution area ratio (0.13±0.02) cm2 in the observation group was higher than that in the control group (0.08±0.01) cm2 (P<0.05). No complications such as necrosis of femoral head, nonunion of fracture, shortening of femoral neck and withdrawal of internal fixation occurred in both groups.@*CONCLUSION@#The application of 3D printing percutaneous surgical guide plate improves the accuracy and safety of closed reduction and cannulated screw internal fixation for femoral neck fracture. It has the advantages of minimally invasive, reducing radiation exposure, fast and accurate, shortening the operation time and reducing intraoperative bleeding.

Relationship between genetic variation of furin gene and hypercholesterolemia and hyper-low-density lipoprotein cholesterolemia in Kazakh general population / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the relationship between the genetic variation of Furin gene and the hypercholesterolemia and hyper-low-density lipoprotein cholesterolemia in Kazakh general population.</p><p><b>METHODS</b>Based on a cross-sectional epidemiological study in a Kazakh general population, a case-control study including 878 subjects was conducted. All the sequence variant-located promoters and exon regions of Furin gene were identified by the direct sequencing of PCR products in 48 randomly selected hypercholesterolemic individuals (24 males and 24 females). After having genotyped the representative polymorphisms in 878 subjects by TaqMan PCR, we investigated the relationship between genetic variation of Furin and hypercholesterolemia/hyper-low-density lipoprotein cholesterolemia in these subjects.</p><p><b>RESULTS</b>Twelve genetic variations in Furin gene were identified by sequencing 48 hypercholesterolemic individuals and 4 common single nucleotide polymorphisms (rs6226, rs6227, rs2071410, and rs4932178)were selected as the representatives for genotyping in these subjects. The rs6226, rs6227, rs2071410, and rs4932178 polymorphisms were successfully genotyped. The distribution of the genotypes, alleles, and haplotypes of rs6226, rs6227, rs2071410, and rs4932178 polymorphisms did not differ significantly between the hypercholesterolemia group and the control groups or between the hyper-low-density lipoprotein cholesterolemia group and the control groups (all P>0.05). The cholesterol and low-density lipoprotein cholesterol levels did not differ significantly among individuals with different genotypes (all P>0.05).</p><p><b>CONCLUSION</b>The genetic variation of Furin may not be associated with hypercholesterolemia or hyper-low-density lipoprotein cholesterolemia in Kazakh general population.</p>

Association between sequence variation of Furin gene and obesity in ethnic Kazakh from Xinjiang / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the association between sequence variation of Furin gene and obesity in ethnic Kazakh population in Xinjiang region.</p><p><b>METHODS</b>Based on a cross-sectional epidemiological study, a case-control study was conducted. All sequence variants located promoter and exon regions of Furin gene were identified with direct sequencing of PCR products from 66 randomly chosen obese individuals (33 males and 33 females). Polymorphisms representative of a general ethnic Kazakh population (856 subjects, including 364 males and 492 females, 478 from obesity group and 378 from control group) were determined by TaqMan PCR, the association between sequence variation of Furin gene and obesity was assessed.</p><p><b>RESULTS</b>Twelve sequence variations in Furin gene were identified through sequencing of 66 obese individuals. And 4 common SNPs (rs6226, rs6227, rs2071410 and rs4932178) were selected as representative polymorphisms for the general Kazakh population. Above polymorphisms were successfully typed in all subjects. Distribution of the genotypes, alleles, and haplotypes formed by such polymorphisms did not differ significantly between the case and control groups or males and females (P>0.05). The waist circumference also did not differ significantly among individuals with different genotypes (P>0.05).</p><p><b>CONCLUSION</b>Genetic variations of Furin gene are not associated with obesity in Kazakh general population.</p>

Genetic variation and association of STEAP4 gene with metabolic syndrome in Chinese Uygur patients / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the genetic variations of the six transmembrane epithelial antigen of prostate 4 gene (STEAP4) in Chinese Uygur patients with metabolic syndrome (MetS) and to analyze the association of the representative genetic variations of STEAP4 gene with MetS in the population.</p><p><b>METHODS</b>The sequences of STEAP4 gene functional region (all exons, exon-intron boundaries and the putative promoter region, including the -1 kb 5'and 3'untranslated regions) were amplified and sequenced for patients with MetS. The representative variations were selected based on the function (missense mutation) and linkage disequilibrxium (γ² > 0.8) and genotyped with TaqMan-PCR method in 1910 general populations (682 MetS and 1228 non-MetS controls). The subjects were selected from the cross-sectional study of obesity, hypertension, diabetes, dyslipidemia from January to February 2007 among Uygur people, a relatively isolated population with a relatively homogeneous environment, in Hextian area in Xinjiang Uygur Autonomous Region.</p><p><b>RESULTS</b>(1) Fourteen novel and six known single nucleotide polymorphisms (SNPs) or mutations, including 2 missense mutations, were identified at the functional region of STEAP4 gene in 96 Uygur patients with MetS. The minor allele frequencies of the SNPs of STEAP4 gene in Uygur population were different from that in European and Chinese Han in Beijing area. (2) The SNP 364G/A (rs34741656, Ala122Thr) was significantly associated with MetS [dominant model P = 0.034, OR = 0.757(95%CI: 0.584-0.982) adjusted for age and gender], and was associated with fasting blood glucose (FBG) (P = 0.049) and 2-hour postprandial glucose (2HPG) (P = 0.027) levels in controls. In this SNP, the AA carriers had lower blood glucose levels compared with subjects carrying GG and GT genotypes. (3) The common haplotype H4 (rs8122/rs1981529/ rs34741656, G-A-A), may be associated with MetS (permutation P = 0.089).</p><p><b>CONCLUSION</b>STEAP 4 genetic polymorphisms may be associated with MetS risk in Chinese Uygur population.</p>

Relationship between rs3865418 polymorphism of neural precursor cell expressed developmentally downregulated 4-like gene and obesity in Kazakh general population / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the relationships between rs3865418 polymorphism of neural precursor cell expressed developmentally downregulated 4-like gene and obesity in Kazakh general population.</p><p><b>METHODS</b>Based on a cross-sectional epidemiological study in a Kazakh general population, a case-control study was conducted. The rs3865418 polymorphism in a Kazakh general population (856 subjects, including 364 males and 492 females; 478 in obesity group and 378 in normal control group) was genotyped by TaqMan polymerase chain reaction, and the relationship between rs3865418 polymorphism and obesity was analyzed.</p><p><b>RESULTS</b>The rs3865418 polymorphism was successfully genotyped in 851 Kazakh subjects. The distribution of the genotypes and alleles of rs3865418 polymorphism did not differ significantly between the obesity group and normal control group in terms of general populations, males, and females (all P > 0.05). The waist circumference showed a tendency of C/C > C/T > T/T in males and C/C < C/T < T/T in females, but without statistical significance (P > 0.05).</p><p><b>CONCLUSIONS</b>The rs3865418 polymorphism of neural precursor cell expressed developmentally downregulated 4-like gene may not be associated with obesity in Kazakh general population. In other words, it is not a predisposing factor for obesity in Kazakh.</p>

Epidemiological survey of lipid levels and factors in Kazakan people over 30-year old in Fukang of Xinjiang / 中华预防医学杂志

<p><b>OBJECTIVE</b>To study the lipids level in Kazakan individuals over 30-year-old in Fukang area of Xinjiang.</p><p><b>METHODS</b>Random cluster multistage sampling method were performed to select the subjects, and 991 individuals aged older than 30 from Fukang of Xinjiang were included. The plasma total cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), plasma glucose and insulin were measured. Related adverse cardiovascular risk factors were discussed.</p><p><b>RESULTS</b>The mean plasma TC, TG, HDL-C and LDL-C of Kazakan residents over 30-year-old in Fukang of Xinjiang were (5.05 ± 1.07), (1.10 ± 0.66), (1.46 ± 0.38) and (3.06 ± 0.84) mmol/L, respectively. TC, TG and LDL-C levels in male subjects were higher than those in females (male vs female: TC: (5.19 ± 1.05) mmol/L vs (4.94 ± 1.07) mmol/L, t = 3.57, P < 0.01; TG: (1.32 ± 0.80) mmol/L vs (0.94 ± 0.46) mmol/L, t = 8.63, P < 0.01; LDL-C: (3.30 ± 0.85) mmol/L vs (2.88 ± 0.79) mmol/L, t = 8.06, P < 0.01). While the HDL-C level in male subjects was lower than that of female (male vs female: (1.32 ± 0.33) mmol/L vs (1.57 ± 0.38) mmol/L, t = 11.48, P < 0.01). The prevalence of dyslipidemia was 28.3% (280/991) in the overall populations. In the overall populations, the prevalence of hypercholesteremia, hypertriglyceridemia, high low-density lipoprotein cholesterolemia and low serum high density lipoprotein cholesterolemia were 12.6% (125/991), 6.6% (65/991), 11.0% (109/991) and 10.1% (100/991), respectively. The prevalence of individuals with borderline-high TC, TG and LDL-C were 27.0% (268/991), 7.6% (75/991) and 20.5% (203/991), respectively. The prevalence of dyslipidemia was 40.0% (172/430) in male populations. The prevalence of dyslipidemia in group aged 30 - 39, 40 - 49, 50 - 59, 60 and above were 26.2% (78/298), 26.0% (91/350), 31.2% (73/234) and 34.9% (38/109), respectively, the trend of prevalence was significant by trend test for groups comparison (χ(2) = 3.94, P < 0.05). Adjusting for age and gender, TG was positively correlated with waist circumference, abdominal circumference and BMI, the partial relation coefficients were 0.368 (P < 0.01), 0.336 (P < 0.01) and 0.331 (P < 0.01), respectively, and HDL-C was negatively correlated with waist circumference, abdominal circumference and BMI, the partial relation coefficients were -0.340 (P < 0.01), -0.339 (P < 0.01) and -0.321 (P < 0.01), respectively.</p><p><b>CONCLUSION</b>The lipid levels of Kazakan residents from Fukang area are high and are characterized by hypercholesteremia and high low-density lipoprotein cholesterolemia, and more attention of the prevention of dyslipidemia in this populations should be paid to males, border-line abnormal and those aged over 60-year old.</p>

Genetic variations of bone morphogenetic protein 7 gene are associated with hypertriglyceridemia of Uygur Chinese in Xinjiang / 中华心血管病杂志

<p><b>OBJECTIVE</b>To analyze the association between the genetic variations of functional region in bone morphogenetic protein (BMP7) gene and dyslipidemia in Chinese Uygur individuals.</p><p><b>METHODS</b>The case-control study was conducted in 1514 Uygur Chinese based on epidemiological investigation. The all exons, segmental introns and the promoter regions of BMP7 gene were sequenced in 48 out of 1514 Uygur Chinese. Representative variations were then selected according to the minor allele frequency (MAF) and linkage disequilibrium, and genotyped using the TaqMan polymerase chain reaction method in 1514 Uygur Chinese, a relatively isolated general population in a relatively homogeneous environment, to observe the association between genetic variations of BMP7 gene and dyslipidemia.</p><p><b>RESULTS</b>Five novel and eight known variations in the BMP7 gene were identified. All genotype distributions were tested for deviations from Hardy-Weinberg equilibrium. There were significant differences of genotype distribution of rs6025422 between hypertriglyceridemia group and control group (P = 0.001). The levels of triglyceride (TG) showed a decreasing tendency in individuals with AA, AG and GG genotypes of rs6025422. Odd ratio (OR) value adjusted for age, gender, body mass index, smoking and alcohol drinking habits was 0.562 by logistic regression analysis (95%CI: 0.393 - 0.802, P = 0.002).</p><p><b>CONCLUSION</b>The present study shows rs6025422 polymorphism in the BMP7 gene is linked with hypertriglyceridemia phenotype in Uygur Chinese population.</p>

A common variation within the STEAP4 gene exons is associated with obesity in Uygur general population / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Coordinated regulation of nutrient and inflammatory responses by six transmembrane epithelial antigen of prostate 4 (STEAP4) was essential for metabolic homeostasis. STEAP4 expression in human white adipose tissue was associated with obesity. This study aimed to evaluate association between STEAP4 genetic polymorphisms and obesity in Uygur Chinese general population.</p><p><b>METHODS</b>The functional regions of STEAP4 gene were sequenced in 96 Uygur with obesity (body mass index (BMI) > 30 kg/m²). Representative variations were selected according to the function and linkage disequilibrium and genotyped in 1507 obesity (BMI ≥ 25 kg/m²) and 825 non-obesity control (BMI < 25 kg/m²), all of whom were selected from epidemiology study of obesity-related diseases during January to February 2007 among Uygur population in Hetian area of Xinjiang Uygur Autonomous Region.</p><p><b>RESULTS</b>Fourteen novel and 6 known single nucleotide polymorphism (SNPs), including 2 nonsynonymous SNPs (nsSNPs), in the STEAP4 gene were identified. Of the 3 representative SNPs, the nsSNP rs1981529 (Gly75Asp, 224A/G) was significantly associated with obesity phenotype (additive P/Pc = 0.001/0.006, dominant P/Pc = 0.003/0.018, odds ratio (OR) and 95% confidence interval (CI) adjusted for age, gender and drinking 0.755 (0.641 - 0.890) and 0.750 (0.621 - 0.907), respectively). By the multiple linear regression analysis, the quantitative phenotypes of BMI (P/Pc = 0.002/0.004) and waist circumference (P/Pc = 0.004/0.008) were found to be significantly associated with the genotypes of rs1981529 (Gly75Asp, 224A/G) in Uygur general population, and effect size (beta value) of one allele G of rs1981529 (Gly75Asp, 224A/G) was - 0.553 kg/m² for BMI and - 1.311 cm for waist circumference after controlling age, gender and drinking factors.</p><p><b>CONCLUSIONS</b>The present study shows an association of the common variation rs1981529 (Gly75Asp, 224A/G) in the STEAP4 gene with obesity in Uygur general population. Further studies should replicate the results using larger populations.</p>

Association of genetic variations of the prostasin gene with essential hypertension in the Xinjiang Kazakh population / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Transgenic overexpression of human prostasin in rats disturbs salt balance and causes hypertension. We investigated whether genetic variations in prostasin were implicated in hypertension or related phenotypes in the Xinjiang Kazakh population.</p><p><b>METHODS</b>We sequenced all exons and the promoter regions of the prostasin gene in 94 hypertensive individuals, and the genotype identification was performed by the TaqMan polymerase chain reaction method. Case-control studies were conducted in 938 Kazakh subjects.</p><p><b>RESULTS</b>E342K and 2827G > A, which are novel variants, were successfully genotyped in the general Xinjiang Kazakh population with a sample size of 938 individuals (406 men and 532 women). Only one hypertensive patient was identified with the E342K mutation. No significant association was observed between 2827G > A and hypertension. However, quantitative traits of hypertensive intermediate phenotypes were significantly associated with the A allele; P = 0.041 and 0.034 for body mass index (BMI) in the additive and recessive models, P = 0.042 and 0.018 for OGTT-2h glucose in the additive and recessive models, P = 0.031 for IRT-3h insulin in the recessive model, and P = 0.038 for serum potassium in the dominant model.</p><p><b>CONCLUSIONS</b>This study does not provide evidence of a major role of prostasin variation in blood pressure modulation. However, association of prostasin polymorphisms with hypertension and metabolic effects can be observed in our population. Further investigation is warranted to clarify the relevance of prostasin polymorphisms to blood pressure regulation.</p>

Association of STEAP4 genetic polymorphisms with insulin resistance in Uygur Chinese general population / 中国医学科学院学报

<p><b>OBJECTIVE</b>To explore the relationship between six-transmembrane epithelial antigen of prostate 4 (STEAP4) genetic polymorphisms and insulin resistance (IR) in Uygur Chinese general population.</p><p><b>METHODS</b>In this cross-sectional study on the metabolic diseases (e.g. obesity) among Uygur Chinese in Hetian, Xinjiang, China,from January to February 2007, 2127 Uygur individuals were enrolled. The sample size for IR subjects [homeostasis model assessment for insulin resistance (HOMA-IR) ≥2.3 65%] was 669, whereas that for non-IR controls was 664 (HOMA-IR≤1.335%). STEAP4 gene was sequenced in 50 Uygur Chinese individuals with IR (HOMA-IR≥2.3). The representative variations were selected from the population based on a r(2) cutoff of 0.8 and a minor allele frequency of >5% for case-control study.</p><p><b>RESULTS</b>Totally 16 variations including 10 novel variations (no reported in dbSNP) were identified in 50 Uygur individuals with IR. 7414 G/A (rs8122)(P/Pc=0.004/0.012)and 224A/G (rs1981529, Gly75Asp)(P/Pc=0.015/0.045)variations were significantly correlated with IR phenotype in Uygur subjects. As shown by multiple linear regression analysis, the mean values of waist circumference (WC) (P/Pc=0.032/0.256), body mass index (BMI) (P/Pc=0.004/0.032), HOMA-IR (P/Pc=0.010/0.08), and fasting insulin (P/Pc=0.023/0.184) among A (protection) allele carriers of rs8122 and the mean values of WC (P/Pc=0.005/0.040) and BMI (P/Pc=0.002/0.016) among G (protection) allele carriers of rs1981529 gradually declined. Haplotype 1 (rs8122 G- rs1981529 A- rs34741656 G) was significantly associated with a higher prevalence of IR (Permutation P=0.021).</p><p><b>CONCLUSION</b>STEAP4 genetic variations are likely to be associated with obesity-related insulin resistance in Uygur Chinese general population.</p>

Association of the rs4149601 polymorphism of NEDD4L gene with obesity in Xinjiang Kazakh population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the association of the rs4149601 polymorphisms of neural precursor cell expressed developmentally downregulated 4-like gene (NEDD4L) and obesity in Xinjiang Kazakh population.</p><p><b>METHODS</b>The rs4149601 polymorphism of the NEDD4L gene was genotyped in a Xinjiang Kazakh general population including 856 subjects (aged 30 to 60 years, 478 obese and 378 control individuals).</p><p><b>RESULTS</b>The polymorphism was successfully genotyped in 853 Xinjiang Kazakh subjects. The distribution of the additive model and dominant model (AG+ AA vs. GG) of the rs4149601 polymorphism differed significantly between the case and control in both total and females (all P< 0.05). After adjusting for confounding factors, logistic regression analysis showed that the rs4149601 polymorphism (in dominant model) was significantly associated with obesity (OR= 1.479, 95% CI: 1.103-1.983, P= 0.009) in Kazakh. Covariate variance analysis showed that compared with subjects with AA + AG genotypes, the waist circumference was significantly higher in subjects with GG genotype after adjusting for age, smoking and drinking (P= 0.028).</p><p><b>CONCLUSION</b>The genetic variations of the NEDD4L gene may be associated with obesity in Xinjiang Kazakh general population.</p>

Association between rs4149601 polymorphism and essential hypertension in Kazakh / 中华心血管病杂志

<p><b>OBJECTIVE</b>To investigate the association between a functional rs4149601 polymorphism of neural precursor cell expressed developmentally downregulated 4-like gene (NEDD4L) and essential hypertension in Kazakh.</p><p><b>METHODS</b>In this population-based association study, the genotypes of rs4149601 polymorphism were identified by TaqMan PCR in 883 subjects (male 375 383 hypertensives) and its distribution and relationship to hypertension were studied. The association between haplotype (rs4149601, 296921-296923delTTG, rs2288774 and rs2288775, the last three polymorphisms are representative variations identified from 94 Kazakh hypertensive individuals by screening the functional region of NEDD4L previously) and hypertension was also investigated.</p><p><b>RESULTS</b>The genotype distribution of rs4149601 polymorphism was in Hardy-Weinberg equilibrium. The genotype distribution of rs4149601 polymorphism was similar between the essential hypertension patients and the control individuals (all P > 0.05). In the haplotype-based case-control analysis, the distribution of the haplotypes was not significantly different between the case and the control individuals in total and in male subjects but the frequency of D-C-G-G (296921-3delTTG/rs2288774/rs2288775/rs4149601) haplotype was significantly higher in hypertensive than in control individuals in female (P = 0.026).</p><p><b>CONCLUSION</b>Our results suggested that D-C-G-G haplotype of NEDD4L but not rs4149601 polymorphism was linked with hypertension in Kazakh.</p>

Distribution of genetic variation of neural precursor cell expressed developmentally down-regulated 4 gene in Kazak Chinese and its association with hypertension / 中国医学科学院学报

<p><b>OBJECTIVE</b>To analyze the association between the genetic variations of functional region in neural precursor cell expressed developmentally down-regulated 4 ( NEDD4) gene and hypertension in Kazak Chinese in Xinjiang Uygur Autonomous Region.</p><p><b>METHODS</b>The sequences of NEDD4 gene functional region (all exons, exon-intron boundaries, and the putative promoter region, including the 5'- and 3'-untranslated regions 1 kb) were sequenced in Kazak Chinese patients with hypertension. The representative variations selected were genotyped by TaqMan-PCR method in 938 Kazak individuals, including 451 hypertensive patients and 487 normotensive subjects. The association between genetic variations of NEDD4 and hypertension in Kazak was analyzed.</p><p><b>RESULTS</b>Thirteen novel and 15 known single nucleotide polymorphism (SNPs) or mutations, including 7 missense mutations, were identified at the function region of NEDD4 gene in 94 Kazak patients with hypertension. In the nine representative variations genotyped, 4 rare missense mutations [77291T>G (S189R), 77748 C>T (R342W), 123925C>T (P152L), rs1912403 (76821A>G, M33V)] were not specific for the prevalence of hypertension; in addition, the distribution of 5 common SNPs [77943A>C (N407H), rs2303580 (132882G>A, R607Q), rs8028559 (154845T>C), rs7162435 (164420A>G), and rs11550869 (165622C>G)] and haplotypes were not significantly different between the hypertensive patients and normotensive subjects (P>0.05).</p><p><b>CONCLUSION</b>The NEDD4 gene polymorphisms is no associated with hypertension in Kazak Chinese population.</p>

Association of genetic variations of prostasin gene with the essential hypertension in Xinjiang Kazakhs / 中国医学科学院学报

<p><b>OBJECTIVE</b>To explore the relationship between genetic variations of prostasin gene and essential hypertension (EH) in Xinjiang Kazakhs.</p><p><b>METHODS</b>Totally 938 Fukang City residents who were older than 30 years were enrolled in this study using cluster random sampling method. Standardized questionnaire and physical examination were performed. Among them there 451 EH patients (EH group) and 478 normotensive (NT) subjects (NT group) according to Guidelines of Prevention and Control for Hypertension in 2005. All the exons and promoter regions of prostasin gene were sequenced in 94 EH patients. Representative variations (297A>C, 2827C>T, and E342K) were genotyped using TaqMan polymerase chain reaction method in all 938 subjects. The frequencies of genotypes were compared between the EH and NT groups.</p><p><b>RESULTS</b>Ten variations were found as follows: -36G>C, -27C>T, 78G>A, 81G>C (rs8049043), 297A>C, 350C>T, 351A>C, 2827C>T, 3482G>A (E342K), and 3783A>G. E342K and 2827C>T were successfully genotyped. E342K mutation was identified in only one hypertensive patient. CC, CT, and TT genotypes existed in 2827C>T polymorphism. The frequencies of CC, CT, and TT were 81.0%, 17.3, and 1.7% in EH group and 80.3%, 18.9%, and 0.8% in NT group, respectively. The frequencies of C and T alleles were 89.6% and 10.4% in EH group and 89.8% and 10.2% in NT group, respectively. The distribution of genotypes and allele frequencies were not significantly different between these two groups (chi2=2.048, P=0.353 and chi2=0.001, P=0.973). Blood pressure was not significantly among subjects with these three genotypes (P>0.05).</p><p><b>CONCLUSIONS</b>The EH of Xinjiang Kazakhs is not associated with 2827C>T polymorphism in the prostasin gene. E342K mutation in the prostasin gene may contribute partly to the hypertensive phenotype in this population.</p>