Single nucleotide polymorphisms of the myocilin gene in primary open-angle glaucoma patients / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect single nucleotide polymorphisms (SNPs) of the myocilin (MYOC) gene and to investigate their associations with primary open-angle glaucoma (POAG).</p><p><b>METHODS</b>One hundred and fifty-seven sporadic patients with POAG and 155 unrelated control subjects without POAG were recruited from staff and visitors to the Prince of Wales Hospital between 1998 and 2000. All study subjects are ethnic Chinese living in Hong Kong. The two populations were matched in frequencies of gender and age. The SNPs of the MYOC gene in POAG patients and control subjects were screened and identified by high throughout conformation sensitive gel electrophoresis and fluorescent labeling automated sequencing. The genotype frequencies of each SNP in the two groups were compared by the Chi2 test or Fisher's exact 2-tailed test.</p><p><b>RESULTS</b>A total of seventeen SNPs were identified from 2172 bp long of the MYOC gene, including all 3 exons and adjacent non-coding regions. The identified SNPs were 1-83G --> A, G12R, P16L, A17S, R46X, R76K, R91X, T123T, D208E, L215P, 730+35A --> G, A260A, I288I, E300K, T353I, Y471C and 1515+73G --> C, respectively. Of these, R91X, E300K and Y471C were found only in POAG patients. A significant difference between POAG patients and control subjects was found in the genotype frequencies of 1515+73G --> C. The frequency of the heterozygote (CG) was 0.6% in POAG patients, significantly less than the 4.5% in control subjects (Fisher's exact 2-tailed test, P=0.036, OR=0.136, 95%CI=0.022-0.828). No significant difference was found between the two populations in genotype frequencies of all other SNPs.</p><p><b>CONCLUSION</b>The polymorphisms of the MYOC gene may be related to POAG.</p>

Genetic and environmental risk factors for primary open-angle glaucoma / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Primary open-angle glaucoma (POAG) is characterized by optic nerve damage and consists of a group of genetically heterogeneous disorders. This study was to investigate the associations of genetic and environmental factors with POAG in a hospital-based Chinese population.</p><p><b>METHODS</b>Thirty-two adult onset POAG patients and 96 age-sex matched control subjects were studied by multivariable logistic regression analysis for the relationships between POAG and its risk factors including family history, diabetes, hypertension, cardiovascular diseases, cigarette smoking, alcohol consumption and polymorphisms of the myocilin and the optineurin genes.</p><p><b>RESULTS</b>Univariate analysis showed that POAG was related to family history, cardiovascular disease, alcohol consumption and a myocilin sequence alteration (T353I) (P < 0.04). Multivariable logistic regression analysis confirmed that POAG was significantly associated with family history (OR = 20.2), hypertension (OR = 3.58), cigarette smoking (OR = 10.8), alcohol consumption (OR = 0.028) and T353I (OR = 6.03, all P < 0.05).</p><p><b>CONCLUSIONS</b>Family history, hypertension, cigarette smoking and T353I in the myocilin gene are risk factors for POAG. Alcohol consumption, however, has a protective effect.</p>

Antibacterial effect of niaoluqing oral liquid on clinical drug-resistant strains and different serotype strains of Ureaplasma urealyticum in vitro / 中华男科学杂志

<p><b>OBJECTIVES</b>To study the antibacterial effect of Niaoluqing Oral Liquid (NOL) on clinical drug-resistant strains and 14 serotype strains Ureaplasma Urealyticum (UU).</p><p><b>METHODS</b>Sixty-three clinical strains of UU were detected to determine their serology and antibiotic susceptibilities by the metabolic inhibition test (MIT). Mininum inhibitory concentration (MIC) was used to evaluate the sensitivity of NOL to different serotypes of UU. The sensitivity of NOL, erythromycin and tetracycline to 63 clinical strains of UU was also studied.</p><p><b>RESULTS</b>In 63 clinical strains of UU, the range of MIC to NOL was from 0.48 mg/ml to 15.63 mg/ml, MIC50 < or = 1.95 mg/ml, MIC90 < or = 3.91 mg/ml. Among them, 31 strains were resistant to tetracycline and 31 were resistant to erythromycin. No obvious correlation between the sensitivity of NOL to UU clinical strains and that of erythromycin and tetracycline to UU clinical strains (P > 0.05). Clinical strains of UU in this experiment contains all of its serotypes, also having a higher sensitivity to NOL (MIC < or = 3.91 mg/ml) except serology 1, 2, 3 and 11 (MIC > or = 7.81 mg/ml).</p><p><b>CONCLUSIONS</b>NOL exerts a strong in vitro antibacterial effect on erythromycin-resistant and tetracycline-resistant clinical strains of UU. All kinds of serotype strains had a higher sensitivity to NOL, too. Chinese medicinal herbs are of momentous significance in the treatment of UU infection.</p>