Association between ABCB1, ABCG2 carrier protein and COX-2 enzyme gene polymorphisms and breast cancer risk in a Turkish population

AimBreast cancer is the most common cancer and the second leading cause of cancer-related deaths among women. Several genetic and environmental factors are known to be involved in breast cancer pathogenesis, but the exact etiology of this disease is complicated and not completely understood. We aimed to investigate whether the gene polymorphisms of ABCB1 and ABCG2 carrier proteins and COX-2 enzyme affect breast cancer risk.MethodABCG2 C421A (rs2231142), ABCB1 C3435T (rs1045642), COX-2 T8473C (rs5275) and COX-2 G306C (rs5277) were genotyped 104 breast cancer patients and 90 healthy controls using a real-time PCR for breast cancer susceptibility.ResultsPatients carrying ABCG2 C421A, the CC genotype, had a higher risk of disease compared with patients carrying any A allele (OR = 3.06; 95% CI = 1.49–6.25, p = 0.0019). The other variants showed no association with breast cancer (p > 0.05). Comparing the pathological parameters with the variants, only, the frequency of C allele of ABCB1 C3435T was significantly lower in the estrogen receptor-α (ERα) (OR = 2.25; 95% CI: 0.75–6.76; p = 0.041) and progesterone receptor (PgR) (OR = 3.67; 95% CI: 1.34–10.03; p = 0.008) positive breast cancer patients.ConclusionABCB1 C3435T and ABCG2 C421A might represent a potential risk factor for breast cancer for Turkish women.     

Simple pharmacokinetic models accounting for drug monitoring results of atomoxetine and its 4-hydroxylated metabolites in Japanese pediatric patients genotyped for cytochrome P450 2D6

Atomoxetine is an approved medicine for attention-deficit/hyperactivity disorder and a cytochrome P450 2D6 (CYP2D6) probe substrate. Simple physiologically based pharmacokinetic (PBPK) models and compartment models were set up to account for drug monitoring results of 33 Japanese patients (6–15 years of age) to help establish the correct dosage for the evaluation of clinical outcomes. The steady-state one-point drug monitoring data for the most participants indicated the extensive biotransformation of atomoxetine to 4-hydroxyatomoxetine under individually prescribed doses of atomoxetine. However, 5 participants (with impaired CYP2D6 activity scores based on the CYP2D6 genotypes) showed high plasma concentrations of atomoxetine (0.53–1.5 μM) compared with those of total 4-hydroxyatomoxetine (0.49–1.4 μM). Results from full PBPK models using the in-built Japanese pediatric system of software Simcyp, one-compartment models, and new simple PBPK models (using parameters that reflected the subjects' small body size and normal/reduced CYP2D6-dependent clearance) could overlay one-point measured drug/metabolite plasma concentrations from almost common 28 participants within threefold ranges. Validated one-compartment or simple PBPK models can be used to predict steady-state plasma concentrations of atomoxetine and/or its primary metabolites in Japanese pediatric patients (>6 years) who took a variety of individualized doses in a clinical setting.     

载脂蛋白E基因多态性与高脂血症的相关性研究

选取１３３例高脂血症患者及１２２例正常对照人群，用多聚酶链反应方法快速鉴定其载脂蛋白Ｅ的基因型，结合血脂分析，研究载脂蛋白基因多态性与高脂血症的关系，结果表明，Ｅ３等位基因的分布频率在病例组中明显低于对照且，病例组中Ｅ４等位基因的分布频率明显高于对照组，表明Ｅ４等位基因与高脂血症显著相关。     

乙型肝炎病毒基因型、YMDD变异与拉米夫定治疗后HBV DNA反弹关系的研究

目的探讨HBV基因型、YMDD变异与拉米夫定抗病毒治疗后HBV DNA反弹的关系。方法应用多引物对巢式PCR法、PCR-序列分析法检测拉米夫定治疗的27例乙型肝炎患者和19例从未用过抗病毒治疗的患者HBV基因型和P区（YMDD）的突变位点。结果在27例HBV DNA反弹的患者中，13例（48．15％）检出YMDD变异，而对照人群无YMDD变异（P〈0．05）。YMDD变异的位点为rtM204V／I（C区）±rtL180M（B区）；在治疗组YMDD变异的患者中，B、C基因型构成比（46．15％和59．26％）与对照组（53．85％和68．42％）比较无显著性差异（P〉0．05）。结论YMDD变异是拉米夫定治疗后出现耐药导致HBV DNA反弹的主要原因；YMDD变异的常见位点依然为rtM204V／I（C区）±rtL180M（B区）；YMDD变异在B、C基因型病人中无差别。     

Huntington Disease in Asia

Objective:

The objective was to review the major differences of Huntington disease (HD) in Asian population from those in the Caucasian population.

Data Sources:

Data cited in this review were obtained from PubMed database and China National Knowledge Infrastructure (CNKI) from 1994 to 2014. All the papers were written in English or Chinese languages, with the terms of Asia/Asian, HD, genotype, epidemiology, phenotype, and treatment used for the literature search.

Study Selection:

From the PubMed database, we included the articles and reviews which contained the HD patients’ data from Asian countries. From the CNKI, we excluded the papers which were not original research. Due to the language''s restrictions, those data published in other languages were not included.

Results:

In total, 50 papers were cited in this review, authors of which were from the mainland of China, Japan, India, Thailand, Taiwan (China), Korea, and western countries.

Conclusions:

The lower epidemiology in Asians can be partly explained by the less cytosine-adenine-guanine repeats, different haplotypes, and CCG polymorphisms. For the physicians, atypical clinical profiles such as the initial symptom of ataxia, movement abnormalities of Parkinsonism, dystonia, or tics need to be paid more attention to and suggest gene testing if necessary. Moreover, some pathogenesis studies may help progress some new advanced treatments. The clinicians in Asian especially in China should promote the usage of genetic testing and put more effects in rehabilitation, palliative care, and offer comfort of patients and their families. The unified HD rating scale also needs to be popularized in Asia to assist in evaluating the progression of HD.     

既往有偿献血(浆)人群中艾滋病毒与丙型肝炎病毒共感染研究

我们通过对我国中部地区90年代中期因有偿献血感染人类免疫缺陷病毒（HIV）的300例患者的血液标本进行HIV、丙型肝炎病毒（HCV）的血清学和分子生物学检测，了解有偿献血HIV感染人群的HCV共感染率、共感染者流行病学和基因型分布特征。     

Occult infection with HBV intergenotypic A2/G recombinant following acute hepatitis B caused by an HBV/A2 isolate

Viral and host factors leading to occult hepatitis B virus (HBV) infection (OBI) are not fully understood. Whether HBV genotype may influence the occurrence and course of OBIs is unknown. Here, we describe the case of a patient infected with HBV genotype A2 who developed symptomatic acute hepatitis and did not seroconvert after loss of HBsAg and HBeAg. The acute phase of hepatitis B was followed by a period of more than 2 years during which the DNA of an intergenotypic HBV/A2/G recombinant was intermittently detected in serum.     

海南地区人乳头瘤病毒感染情况与亚型分析

目的：了解常见21种人乳头瘤病毒(HPV)在海南地区的亚型分布、多重感染和不同年龄感染情况。方法使用PCR体外扩增和膜杂交法对2013年1~12月来我院就诊的10764例女性进行HPV分型检查。结果10764例样本中阳性率为19.38%,多重感染率为4.96%,25岁以下阳性率最高,各亚型检出率最高依次为52型、16型和58型,未检出43型。结论海南地区主要HPV感染亚型为52型、16型和58型,HPV感染有低龄化趋势。