Genetic polymorphism of clopidogrel metabolism related gene CYP2C19 gene in Chinese from Foshan area of Guangdong Province.

BACKGROUND: The CYP2C19 gene is highly polymorphic, and CYP2C19 is involved in the broad interindividual variability of the clinical efficacy of certain clinical medications, such as clopidogrel. However, data on the CYP2C19 genotype in the Chinese population of the Foshan area of Guangdong Province are scarce. The purpose of this study was to determine CYP2C19 genetic polymorphisms in patients in the Foshan area and to compare the CYP2C19 genotype frequencies in different populations to determine the allele distribution pattern to identify the most appropriate prescription. METHODS: The CYP2C19 gene was detected in 1231 patients on a gene chip platform, and the genotype frequencies of CYP2C19 in Foshan populations from different populations were compared. RESULTS: The frequencies of CYP2C19*1, *2 and *3 in the Foshan population were 63.89%, 30.46% and 5.65%, respectively. For the three metabolic types, the frequency associated with the rapid metabolism type (*1/*1) was 41.51 [95% confidence interval (CI) 40.11 to 42.91%]; that for the intermediate metabolism type (*1/*2, *1/*3) was 44.76% (95% CI 43.34 to 46.18) and that for the slow metabolism type (*2/*2, *2/*3, *3/*3) was 13.73% (95% CI 12.75 to 14.71%). In the Foshan population, the frequencies of the CYP2C19 *2 and *3 alleles were similar to those previously reported for Chinese and other Asian populations. CONCLUSION: Our study is a report on the genetic basis of CYP2C19 polymorphism in the Foshan population. Our results will potentially contribute to the improvement of pharmacotherapy effectiveness by providing personalized medicine for the Foshan population.

Prevalence and genotype distribution of human papillomavirus among 9945 women from the Nanhai area of Foshan.

BACKGROUND: To provide a scientific basis for the prevention and treatment of cervical cancer (CC), we investigated the distribution characteristics and genotypes of human papillomavirus (HPV) and the prevalence of multiple HPV infections in women of different ages seeking management for abnormal cytology in Foshan City. METHODS: Screening for the 21 genotypes of HPV was carried out in 9945 females seeking management of abnormal cervical cytology results using rapid flow-through hybridization of nucleic acid molecules. The overall prevalence, genotype distribution and age-specific prevalence were examined. RESULTS: Our results indicate that the prevalence of overall, high-risk, intermediate-risk, and low-risk HPV infections was 13.5%, 12.1%, 1.3%, and 1.9%, respectively. Of the 1346 women who tested positive, 89.5% were positive for a single HPV genotype, and 10.5% were positive for ≥2 genotypes. The most frequently detected HPV genotype was HPV-16 (2.9%), followed by HPV-52 (2.9%), HPV-58 (1.5%), and HPV-CP8304 (1.0%). The highest infection prevalence was found in patients 21-30 years old (271/1670, 16.2%). CONCLUSION: The prevalence of HPV infection in women seeking management for abnormal cytology in Foshan City is highest in the younger population (21-30 years old). Similar to most previous surveys, HPV-58 and HPV-52 infections are as common as HPV-16 infection.

Rapid, accurate detection of TMPRSS6 gene causative mutations with a high-resolution melting assay.

Mutations of the TMPRSS6 gene are considered the major genetic factors for iron-refractory iron deficiency anemia (IRIDA). Artificial clone libraries containing 17 known mutations of the TMPRSS6 gene were used to develop a high-resolution melting (HRM) assay for the detection of 17 TMPRSS6 gene mutations. The melting temperatures and melting curves were able to distinguish the different genotypes of the 17 TMPRSS6 gene mutations. We used replicate experiments to evaluate the reproducibility of the assay, and the coefficients of variation were in the range 0.0091% to 0.0873%. A total of 145 Chinese patients with IDA were screened with this assay and no TMPRSS6 gene causative mutation was found in any patient. The HRM assay was proved to be rapid, accurate and cost-effective method to identify the TMPRSS6 gene mutations and can be used in the clinical diagnosis of IRIDA.