Pacifiplex: an ancestry-informative SNP panel centred on Australia and the Pacific region

The analysis of human population variation is an area of considerable interest in the forensic, medical genetics and anthropological fields. Several forensic single nucleotide polymorphism (SNP) assays provide ancestry-informative genotypes in sensitive tests designed to work with limited DNA samples, including a 34-SNP multiplex differentiating African, European and East Asian ancestries. Although assays capable of differentiating Oceanian ancestry at a global scale have become available, this study describes markers compiled specifically for differentiation of Oceanian populations. A sensitive multiplex assay, termed Pacifiplex, was developed and optimized in a small-scale test applicable to forensic analyses. The Pacifiplex assay comprises 29 ancestry-informative marker SNPs (AIM-SNPs) selected to complement the 34-plex test, that in a combined set distinguish Africans, Europeans, East Asians and Oceanians. Nine Pacific region study populations were genotyped with both SNP assays, then compared to four reference population groups from the HGDP-CEPH human diversity panel. STRUCTURE analyses estimated population cluster membership proportions that aligned with the patterns of variation suggested for each study population’s currently inferred demographic histories. Aboriginal Taiwanese and Philippine samples indicated high East Asian ancestry components, Papua New Guinean and Aboriginal Australians samples were predominantly Oceanian, while other populations displayed cluster patterns explained by the distribution of divergence amongst Melanesians, Polynesians and Micronesians. Genotype data from Pacifiplex and 34-plex tests is particularly well suited to analysis of Australian Aboriginal populations and when combined with Y and mitochondrial DNA variation will provide a powerful set of markers for ancestry inference applied to modern Australian demographic profiles. On a broader geographic scale, Pacifiplex adds highly informative data for inferring the ancestry of individuals from Oceanian populations. The sensitivity of Pacifiplex enabled successful genotyping of population samples from 50-year-old serum samples obtained from several Oceanian regions that would otherwise be unlikely to produce useful population data. This indicates tests primarily developed for forensic ancestry analysis also provide an important contribution to studies of populations where useful samples are in limited supply.     

总胆固醇与男性肺癌发病关系的前瞻性队列研究

目的 探讨基线TC与中国男性肺癌发病风险的关联及其强度。方法 自2006年5月,以开滦集团全体在职及离退休男性职工为调查对象,建立开滦集团男性动态队列并随访。基线调查时收集研究对象的社会人口学、个人疾病史、身体测量指标和TC等基线信息,并利用随访收集肺癌发病结局信息。参考《中国成人血脂异常防治指南》与研究人群TC分布特征,TC按照五分位数进行分组：<160、160～、180～、200～、≥240 mg/dl,以TC 160～mg/dl组为参比组,利用Cox比例风险模型分析基线TC与男性肺癌发病风险的关联性、限制性立方样条曲线分析其非线性关系。结果 截至2014年12月31日,109 884名男性进入队列,共计随访763 819.25人年,随访时间M=7.88年,收集肺癌新发病例808例。调整年龄、文化程度、收入、吸烟、饮酒、粉尘暴露史、FPG、BMI后,以160～mg/dl组为对照,TC偏低（<160 mg/dl）和TC升高（≥240 mg/dl）组男性肺癌发生风险分别升高34%（HR=1.34,95% CI：1.04～1.72）和45%（HR=1.45,95% CI：1.09～1.92）。剔除随访2年内肺癌新发病例及有高血脂病史者后,结果无显著变化。结论 TC与男性肺癌发生相关,TC过高或过低男性的肺癌发病风险均升高,保持适当的TC水平可能是预防和控制肺癌的有效措施之一。     

超声造影联合空心针活检在浸润性乳腺癌前哨淋巴结转移评估中的价值

目的探讨超声造影联合空心针组织穿刺活检评估浸润性乳腺癌患者腋窝前哨淋巴结(sentinel lymph node,SLN)转移的价值。方法120例浸润性乳腺癌患者行乳腺癌根治术前均行常规超声及超声造影检查,记录SLN数目及超声造影增强模式,对超声造影检出SLN者行超声引导下空心针组织穿刺活检;乳腺癌根治术中行SLN活检。以SLN组织活检病理检查结果为金标准,评估超声造影、超声造影联合空心针组织穿刺活检诊断腋窝SLN转移的价值。结果120例患者超声造影检出SLN共158枚,手术组织病理检查证实发生转移57枚,未转移101枚。超声造影表现为均匀增强96枚,不均匀增强57枚,微弱增强或无增强5枚。超声造影诊断腋窝SLN转移62枚,未转移96枚。超声造影联合空心针组织穿刺活检诊断腋窝SLN转移49枚,未转移109枚。以SLN组织活检病理检查结果为金标准,超声造影诊断腋窝SLN转移的灵敏度为78.95%,特异度为83.17%,阳性预测值为72.58%,阴性预测值为87.50%,准确率为81.65%;超声造影联合空心针穿刺活检诊断腋窝SLN转移的灵敏度为85.96%,特异度为100%,阳性预测值为100%,阴性预测值为92.66%,准确率为94.94%。结论超声造影联合空心针组织穿刺活检在浸润性乳腺癌患者腋窝SLN转移诊断中具有较高价值。     

Cancer survival in China, 2003–2005: A population‐based study

Limited population‐based cancer registry data available in China until now has hampered efforts to inform cancer control policy. Following extensive efforts to improve the systematic cancer surveillance in this country, we report on the largest pooled analysis of cancer survival data in China to date. Of 21 population‐based cancer registries, data from 17 registries (n = 138,852 cancer records) were included in the final analysis. Cases were diagnosed in 2003–2005 and followed until the end of 2010. Age‐standardized relative survival was calculated using region‐specific life tables for all cancers combined and 26 individual cancers. Estimates were further stratified by sex and geographical area. The age‐standardized 5‐year relative survival for all cancers was 30.9% (95% confidence intervals : 30.6%‐31.2%). Female breast cancer had high survival (73.0%) followed by cancers of the colorectum (47.2%), stomach (27.4%), esophagus (20.9%), with lung and liver cancer having poor survival (16.1% and 10.1%), respectively. Survival for women was generally higher than for men. Survival for rural patients was about half that of their urban counterparts for all cancers combined (21.8% vs. 39.5%); the pattern was similar for individual major cancers except esophageal cancer. The poor population survival rates in China emphasize the urgent need for government policy changes and investment to improve health services. While the causes for the striking urban‐rural disparities observed are not fully understood, increasing access of health service in rural areas and providing basic health‐care to the disadvantaged populations will be essential for reducing this disparity in the future.     

全球肺癌流行数据解读

肺癌仍然是全球癌症的主要死因之一,造成了严重的疾病负担。烟草暴露是肺癌主要的危险因素,20世纪60年代以来,全球逐步对烟草暴露采取控制措施,人群中烟草暴露水平也随之降低,全球肺癌的流行特征可能也随之发生变化。本研究通过全球肿瘤登记数据和相关研究报道的数据资料,分年龄、性别、地区、诊断分期、生存情况5个方面,对全球肺癌流行数据进行描述,以阐明目前全球肺癌的流行特征,为肺癌防控提供相应的科学依据,并通过癌症三级预防策略为肺癌防控提供相应的措施和建议。分析结果显示,肺癌在老年人群（≥65岁）中发病和死亡负担远高于劳动力人群（15~64岁）;男性肺癌年龄标化发病率高于女性,但总体上男性肺癌年龄标化发病率呈下降趋势,而女性肺癌年龄标化发病率呈上升趋势;在人类发展指数（HDI）高和非常高的地区肺癌发病和死亡负担远高于HDI低和非常低的地区;肺癌Ⅰ期诊断率最高的国家为日本（38.6%）,其相应的标化5年净生存率也最高（32.9%）,中国、日本等国肺癌的生存状况有所改善,但整体肺癌的生存状况仍然不容乐观。鉴于目前肺癌的流行特征,进一步加强烟草控制措施,降低女性肺癌特异性危险因素的暴露是肺癌一级预防的主要目标。推动高危人群行低剂量计算机断层扫描筛查,降低肺癌筛查的假阳性率及推动医疗制度改革和规范化诊疗分别为肺癌二级和三级预防的主要措施。     

中国人群体重指数与食管癌发病风险的Meta分析

摘要:目的　探讨中国人群肥胖与食管癌发病风险的关系,评估BMI与食管癌发病风险的剂量反应关系。方法　系统性检索国内外公开发表的有关中国人群BMI与食管癌发病关系的中英文文献,并辅以文献追溯等方法,检索数据库包括中国知网、万方数据知识服务平台、PubMed、Embase和Google Scholar,时间范围从各数据库建库至2014年9月,共检索到60篇文献。采用Meta分析方法计算肥胖与食管癌发病风险的合并OR值（95%CI）,运用最小二乘估计方法（GLST）估计BMI与食管癌发病风险的剂量反应关系。结果　最终纳入文献5篇,纳入食管癌病例7 215例。Meta分析结果表明,肥胖与中国人群食管癌发病风险呈负相关（OR＝0.56,95%CI:0.35～0.90）,并且这种负相关不受研究类型、地区、BMI获取方式和病例来源的影响。BMI与食管癌发病风险呈线性剂量反应关系,BMI每增加5 kg/m2食管癌发病风险降低（OR＝0.57,95%CI:0.54～0.60）。结论　本次Meta分析结果显示高BMI是中国人群食管癌发病的一个保护性因素。