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Objective: To investigate the association between the NINJ2 gene rs11833579 polymorphism and stroke in Han Chinese population., Methods: This study was a population-based cross-sectional case-control study. Polymerase chain reaction-restriction fragment length polymorphism (RFLP) and sequencing were used for the detection of NINJ2 genotypes in 790 patients with stroke (679 ischemic stroke) which were Han Chinese population from Fangshan First Hospital and 811 controls which were healthy Han Chinese population without family history of stroke in Fangshan district rural area., Results: In rs11833579 locus of the NINJ2 gene, the frequencies of GG genotype and allele G were higher in ischemic stroke patients than that in controls (P<0.001). The frequency of allele G of the NINJ2 gene was higher in cerebral hemorrhage patients than that in controls (P=0.005). Genotype had little effect on the glucose, total cholesterol and triglyceride., Conclusion: There is significant association between rs11833579 site polymorphism of the NINJ2 gene and risk for stroke in Han Chinese population from Fangshan district.

Renin is a rate-limiting enzyme of the renin-angiotensin system and plays a crucial role in the regulation of blood pressure (BP). Angiotensinogen (AGT) is the precursor of potent vasoactive hormone angiotensin II and the AGT gene has been incriminated as a marker for genetic predisposition to essential hypertension (EH) in some ethnic groups. The purpose of the study is to explore the association of a new genetic marker of renin gene, and AGT gene M235T, A-6G, and A-20C polymorphisms and their haplotypes with EH in the Mongolian population. On the basis of the prevalence survey, 243 hypertensives and 258 normotensives who had no blood relationship with each other were selected as subjects. All the subjects were interviewed with questionnaires and their blood specimens were collected. Renin gene insertion/ deletion (I/D) polymorphism was genotyped by PCR-polyacrylamide gel electrophoresis. AGT gene M235T, A-6G, and A-20C polymorphisms were genotyped by a PCR-restriction fragment length polymorphism and single-strand conformation polymorphism. The frequencies of renin genotype DD and allele D in hypertensives (36.21%, 63.79%, respectively) were significantly higher than those in normotensives (29.84%, 57.17%, respectively, P < 0.05). The odds ratios (OR) of renin genotype ID, DD to renin genotype II on hypertension were 1.98 (OR 95% CI 1.08-3.72) and 2.51 (OR 95% CI 1.33-4.88), respectively. There were no significant differences in the distributions of genotypes and alleles for AGT gene M235T, A-6G, and A-20C polymorphisms and all different haplotypes between the two groups. Renin gene I/D polymorphism is associated with EH, whereas AGT gene M235T, A-6G, and A-20C polymorphisms and the haplotypes are not associated with EH in the Mongolian population.

Background: High-altitude pulmonary edema (HAPE) is thought of as an independent clinical disorder with a constitutional or genetic component in its etiology. We focused on 5 common polymorphisms within HSPA1A (rs1043618 and rs1008438), HSPA1B (rs1061581 and rs539689) and HSPA1L (rs2227956) of Hsp70 family to explore their potential interaction upon susceptibility to HAPE in Chinese., Methods: A total of 148 HAPE patients and 483 matched controls were recruited during the construction of Qinghai-Tibet railway from 2001 to 2006. Genotyping was performed using PCR-RFLP, PCR-SSCP and PCR-direct-sequencing techniques. Promoter activity was evaluated by luciferase reporter assays. Gene-gene interaction was conducted by MDR v.2.0, and haplotype-diplotype analysis by Haplo.stats v.1.4.0., Results: Significant differences were observed in the genotype (P=0.0136) and allele (P=0.0299) distributions of rs1008438, and in rs1061581 allele distribution (P=0.0421) between HAPE patients and controls. Interaction analysis indicated that 3 polymorphisms (rs1061581, rs1043618 and rs1008438) shared strong synergism with a testing accuracy of 0.792 and cross-validation consistency 10 out of 10 (P=0.001). Haplotypes Hap4 (G-C-A, in order of rs1061581, rs1043618 and rs1008438) and Hap5 (G-G-A) had an 86% reduced risk (P=0.0009) against and Hap7 (A-C-C) had a 2.43-fold increased risk for HAPE. When considered as diplotypes, significance was noted for Dip5 (Hap1-Hap7) (OR=3.39; 95% CI: 1.28-9.17; P=0.0140). Functional assessment supported the involvement of rs1008438 in the pathogenesis of HAPE., Conclusion: We demonstrated strong interaction of rs1061581, rs1043618 and rs1008438 polymorphisms within Hsp70 family upon susceptibility to HAPE in Chinese. Moreover, polymorphism rs1008438 might cause the development of HAPE via a change in HSPA1A promoter activity.

Objective: To investigate the association of ghrelin gene polymorphisms with metabolic syndrome in Han Nationality Chinese., Methods: A total of 240 patients with metabolic syndrome and 427 adults aged above forty years were recruited. Genotypes were determined by polymerase chain reaction and restriction fragment length polymorphism analysis., Results: The allelic frequency of the Leu72Met polymorphism was 17.3% in the patient group and 11.9% in the control group (chi2 = 7.36, P = 0.007). Metabolic syndrome was more prevalent among carriers of the Met72 variant (43.8 vs 33.1%, age- and sex-adjusted odds ratio = 1.57, P = 0.01). No Arg51Gln variants were found in our study subjects., Conclusion: Rather than being associated with its individual components, Leu72Met polymorphism is associated with metabolic syndrome in the Han Nationality Chinese. Arg51Gln polymorphism is rare in the Han Nationality Chinese.

Objective: To investigate the association of polymorphisms in the apolipoprotein B gene (APOB) 3'variable number of tandem repeat with natural longevity in the Xinjiang Uighur nationality people., Methods: Totally 191 healthy individuals over 90 years and 53 individuals aged 65-70 years were recruited among Xinjiang Uighur population, the nationality, gender and living area were matched. Genotyping was performed using polymerase chain reaction-sequence specific primer(PCR-SSP) and PCR-sequencing., Results: Fourteen alleles were found in the Xinjiang Uighur nationality population. The frequency of HVE36 and HVE42 in the natural longevity group were significantly higher than that in the control group (both P<0.05) and HVE44, HVE46, HVE48 and HVE58 were only found in the natural longevity group. However, the frequency of HVE26, HVE30 and HVE34 were markedly lower in the natural longevity group compared to the control group. Logistic regression analyses revealed that allele L and the genotypes LL were positively associated with age, whereas the allele S and genotype SS were negatively associated with age (both P<0.05). Each allele consists of 15 bp tandem repeats with rich-AT by PCR-sequencing., Conclusion: These results indicate that the S allele, and SS genotype are frail factors in China Uighur natural longevity people, whereas allele L and genotypes LL are protective factors.

Objective: To investigate the association of angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism with type 2 diabetes mellitus (T2DM)., Methods: Two hundred and nine patients with T2DM diagnosed based on the criteria for diabetes mellitus in 1999 by WHO and 221 controls were recruited from general population of Dongcheng District in Beijing. All subjects were genotyped for the I/D polymorphism of ACE gene by PCR-fragment length polymorphism (FLP) assay. Blood pressure, levels of plasma glucose, lipids and serum insulin were determined. Body mass index (BMI), waist-hip ratio (WHR) and homeostasis model assessment-insulin resistance index (HOMA-IR) were calculated., Results: The genotype frequencies for ACE genes DD, ID, and II were 19.1%, 42.1%, and 38.8% in patients, respectively, and 9.6%, 49.4%, and 41.0% in controls, respectively. The ACE DD genotype frequency was significantly higher in patients than in controls (chi2 = 7.61, P = 0.022). Multivariate logistic regression analysis showed that the ACE DD genotype was a risk factor for T2DM, with the OR of 2.35 (95% CI 1.17-4.71) adjusted for age, sex, BMI, WHR, blood pressure, and serum cholesterol levels., Conclusion: The ACE DD genotype is associated with the increased susceptibility to type 2 diabetes mellitus.

Objective: To explore the distribution of polymorphisms of apolipoprotein E(apoE) gene and its relation to natural longevity in the Xinjiang Uighur people., Methods: Using polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP), the authors obtained data from centenarians(n=42), 90-year-old people (n=102), 65-70-year-old people (n=70) and controls(n=53)., Results: The frequencies of apoE genotypes epsilon 3/4, epsilon 3/3 and epsilon 2/3 were 2.4%, 69.0% and 23.8% respectively in the centenarian group, and the frequencies of their epsilon 4, epsilon 3 and epsilon 2 alleles were 1.2%, 82.1% and 16.7%. The frequencies of genotype epsilon 3/4 and epsilon 4, epsilon 3 allele in the centenarian group were significantly lower than those in controls(P< 0.01), whereas the frequencies of genotype epsilon 2/3 and epsilon 2 allele in the centenarian group were significantly higher than those in controls(P< 0.01). Longevity was noted to be positively correlated with epsilon 2 and negatively correlated with epsilon 4., Conclusion: This relationship reflects a genetic influence on differential survival and may point to pleiotropic age-dependent effects on longevity.

Objective: To evaluate the potential implications of the genetic variability of angiotensin converting enzyme, angiotensinogen and angiotensin II type 1 receptor gene for essential hypertension in Tibetan., Methods: A case-control study was conducted in 173 hypertensive individuals and 193 individuals with normal blood pressure. Multiple logistic regression analyses were used to estimate the risks of developing hypertension for different genotypes, and haplotype analyses of the angiotensinogen gene were used to determine the association between two-locus angiotensinogen gene polymorphisms and hypertension., Results: As to the risk to high blood pressure and high systolic pressure, women with MM genotype were 7.7 (95% CI: 1.3-20.5) and 8.7 (95% CI: 1.8-20.1) times higher than those with TT genotype after adjustment for age and body mass index. Haplotype frequencies for M235T and G-6A were significantly different between hypertensive individuals and controls, which indicated an association of angiotensinogen gene haplotypes with hypertension, and a significant association of 235T/-6A haplotype with hypotensive effect., Conclusion: Our results suggest that angiotensinogen gene 235MM is a predictor for hypertension development in Tibetan women but not in men, and may exert its hypertensive effect on linkage disequilibrum with a possible function locus of G-6A.

Objective: To investigate the association of specific functional gene ACE (I/D) variants of the renin-angiotensin system with essential hypertension (EH) and interaction between ACE (I/D) gene and risk factors for EH in a genetically homogenous Mongolia rural population of China., Methods: Individuals (n=1099) were recruited from general population of Kezuohouqi Banner in Inner Mongolian Autonomous Region., Results: The association was found between ACE genotype DD plus ID and EH, with an interaction between ACE genotype DD plus ID and cigarette smoking in an additive model. Cigarette smoking index and ACE gene showed a low exposure-gene (LEG) effect on EH, with interaction indices from 7.10 to 1.16. Interaction between ACE genotype DD plus ID and alcohol drinking on EH appeared an additive model. Alcohol drinking index and ACE gene showed a low exposure-gene (LEG) effect on EH, with interaction indices from 1.66 to 1.09. BMI and ACE gene showed a low exposure-gene (LEG) effect on EH, with interaction indices from 6.15 to 2.49. Interactions between ACE genotype and WHR on EH showed a multiplicative model. In a short,there was an interaction between ACE gene and cigarette smoking, alcohol drinking and BMI on EH, especially in a low dose-exposure effect, Conclusion: It is important for individuals who carry ACE D allele gene to prevent EH, and furthermore, to prevent and control coronary heart disease, in a view of population-based prevention.

Objective: To clarify whether A1166C polymorphism of the angiotensin II type 1 receptor (AT(1)R) gene is associated with susceptibility to essential hypertension in Han, Tibetan and Yi populations in China., Methods: This study involved 302 normotensive and 446 hypertensive subjects. The polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism in genomic DNA. The data were analyzed by ANCOVA, chi-square test, and multiple logistic regression., Results: In normotensive controls, the A1166 allele frequencies were 0.979, 0.939 and 0.965 in Han, Tibetan and Yi participants, respectively. There was no significant intergroup variation in frequency of the allele in normotensives (chi-square=4.166, P=0.125). The frequency of the A1166 allele in Tibetan male hypertensives was significantly higher than that in normotensives (chi-square=11.46, P=0.001). There was no significant difference in A1166C genotype distribution and allele frequency between normotensives and hypertensives either in the Han (P=0.465) or Yi (P=0.357) populations. Body mass index in the Han and Yi populations (P=0.0001), age in the Tibetan and Yi populations (P=0.0001), and AA genotype in the Tibetan male population (P=0.0034) all were independent risk factors for hypertension. Diastolic blood pressure levels were significantly higher in Tibetan male subjects with the AA genotype than in those with the AC+CC genotype (P=0.0040)., Conclusion: The A1166 allele is very common in Han, Tibetan and Yi populations, approximately 1.35-fold more common than in Caucasians. The A1166 allele of the AT(1)R gene may be a predisposing factor for essential hypertension in Tibetan males. A1166C polymorphism of the AT(1)R gene is probably not involved in the pathogenesis of essential hypertension in Han and Yi populations.

Objective: To investigate whether beta 2-adrenergic receptor gene (beta 2AR) polymorphism at position 16, 27, 164 is in association with asthma susceptibility or asthmatic phenotype (including nocturnal asthma, serum IgE level, bronchial responsiveness, the status of asthmatics)., Methods: By using PCR-RFLP and allelic-specific PCR (ASP), the polymorphism of beta 2AR gene at position 16, 27, 164 in 125 Han origin asthmatics and 96 normal healthy controls with the same ethnic nearby Beijing region were genotyped. All patients had their serum total IgE (TIgE) measured by RAST, pulmonary ventilatory function assessed by FEV1% and FEV1/FVC, bronchial responsiveness challenged by methacholine (if FEV1% > 70%), and brocho-reversibity by inhaling beta 2-agonist., Results: There was higher prevalence of Gly16 homozygous of beta 2AR in asthmatics than that in normal healthy controls (22.4% vs 8.3%, P < 0.05), with odd ratio (OR) 2.918 (95% CI: 1.256-6.781); Also there was higher frequency of Gly16 homozygous of beta 2AR in nocturnal asthmatics than that in nonnocturnal asthmatics (35.3% vs 13.5%, P < 0.01), but Gly16 homozygous of beta 2AR was low an independent risk factor for the pathogenesis of asthma. The dose of methacholine was low in asthmatics carrying Gln27 homozygous beta 2AR than Glu27 homozygous beta 2AR and Gln/Glu27 heterozygous beta 2AR in brocho-challenge test [(0.205 +/- 0.275) vs (2.11 +/- 3.00) vs (1.575 +/- 0.828) mumol, P < 0.05]., Conclusions: Gly16 homozygous beta 2AR was associated with asthma susceptibility in Chinese patients with Han ethnic nearby Beijing region, and Gly16 homozygous beta 2AR was associated significantly with nocturnal asthma. Glu27 homozygous beta 2AR was related to hyper-bronchial reactivity of asthmatics.