[A case-control study on the risk factors of central nervous system congenital malformations].

OBJECTIVE: To determine the risk factors in the development of central nervous system (CNS) congenital malformations. METHODS: A hospital-based 1:2 matched case-control study was conducted. Each case was matched with two normal controls on sex and residential area, date of birth, within half a year. By means of simple and multivariable conditional logistic regression, 48 factors were analyzed. RESULTS: Maternal exposure to pesticide or having cold with fever, family history of positive congenital malformations, preference eating pickled vegetables, negative life events, large consumption of meat, eggs, beans and milk during pregnancy and paternal exposure to poisonous chemicals were significantly associated with CNS congenital malformations, with odds ratios 16.471, 12.621, 10.246, 7.274, 3.730, 0.229, 5.616, respectively. CONCLUSIONS: Maternal exposure to pesticides, cold with fever, positive congenital malformations family history, preference of eating pickled vegetables, negative life events during pregnancy, and paternal exposure to poisonous chemicals were the key risk factors contributing to CNS congenital malformations, while maternal exposure to big consumption of meat, eggs, beans and milk during pregnancy was protective factors that reducing CNS congenital malformations.

[Relationship between mutation of exon G894 T of endothelial nitric oxide synthase gene and overweight to essential hypertension].

OBJECTIVE: To explore the relationship between the 7th exon G894T mutation of endothelial nitric oxide synthase (eNOS) gene and overweight in patients with essential hypertension. METHODS: Totally, 116 patients with essential hypertension taking no medications and 136 normotensives were selected from a steel workers as study subjects. Polymerase chain reaction and restriction fragment length polymorphism were performed to detect mutation of the 7th exon G894T. Additive model was used to analyze interaction between G894T mutation and overweight on hypertension. Population attributable risk percent (PAR%) for them, etiologic fraction, was applied to their contribution to hypertension. RESULTS: There was a positive interaction between G894T mutation and overweight on essential hypertension, with an index of interaction of 1.99 and attributable interaction percent of 30.76%. Their pure attributable interaction percent was 36.38%. Multiple logistic regression analysis showed that there still was positive interaction between G894T mutation and overweight on essential hypertension, adjusted for age, sex, smoking and alcohol drinking. Index of their attributable interaction was 2.85, with attributable interaction percent of 39.97%, also adjusted for the above-mentioned factors. Their pure attributable interaction percent was 46.49% and PAR% was estimated as about 15% under certain condition. CONCLUSIONS: Interaction between mutation of the 7th exon G894T of eNOS gene and overweight played an important role in essential hypertension of the studied population. Control of body weight in the population with both G894T mutation and overweight could markedly decrease their risk of hypertension.

[Effects of G894T mutation in the endothelial nitric oxide synthase gene on blood pressure].

OBJECTIVE: To analyze the association between G894T (Glu298Asp) mutation at exon 7 in the endothelial nitric oxide synthase gene and essential hypertension. METHODS: One hundred and sixteen essential hypertensives without taking hypertensive medication and 136 normotensives screened from health workers in a steel factory were selected as subjects in this study. Polymerase chain reaction (PCR) and Ban II restriction enzyme digestion were performed to detect the G894T mutation. RESULTS: G894T mutation was significantly associated with essential hypertension. The T allele frequency in essential hypertensive group was significantly higher than that in normotensive group (16.0% versus 8.8%, P = 0.019, OR = 1.96, 95% CI: 1.14 - 3.37). The levels of systolic blood pressure and diastolic blood pressure in the G894T mutant genotypes were all significantly elevated in hypertensive, normotensive, and the total subjects (P < 0.05). After adjusting factors as age, sex, smoking, alcohol drinking, body mass index, triglyceride, serum total cholesterol, serum high density lipoprotein cholesterol by analysis of multiple covariance, significant positive effect of the G894T mutant genotypes on blood pressure in the total subjects (P < 0.01) was noticed. CONCLUSION: This study suggested that the G894T mutation in the endothelial nitric oxide synthase gene might serve as a major risk factor of essential hypertension in this study population.