KCNQ1 rs2237895 gene polymorphism increases susceptibility to type 2 diabetes mellitus in Asian populations

BACKGROUND The association of single nucleotide polymorphism of KCNQ1 gene rs2237895 with type 2 diabetes mellitus(T2DM)is currently controversial.It is unknown whether this association can be gene realized across different populations.AIM To determine the association of KCNQ1 rs2237895 with T2DM and provide reliable evidence for genetic susceptibility to T2DM.METHODS We searched PubMed,Embase,Web of Science,Cochrane Library,Medline,Baidu Academic,China National Knowledge Infrastructure,China Biomedical Literature Database,and Wanfang to investigate the association between KCNQ1 gene rs2237895 and the risk of T2DM up to January 12,2022.Review Manager 5.4 was used to analyze the association of the KCNQ1 gene rs2237895 polymorphism with T2DM and to evaluate the publication bias of the selected literature.RESULTS Twelve case–control studies(including 11273 cases and 11654 controls)met our inclusion criteria.In the full population,allelic model[odds ratio(OR):1.19;95%confidence interval(95%CI):1.09–1.29;P<0.0001],recessive model(OR:1.20;95%CI:1.11–1.29;P<0.0001),dominant model(OR:1.27.95%CI:1.14–1.42;P<0.0001),and codominant model(OR:1.36;95%CI:1.15–1.60;P=0.0003)(OR:1.22;95%CI:1.10–1.36;P=0.0002)indicated that the KCNQ1 gene rs2237895 polymorphism was significantly correlated with susceptibility to T2DM.In stratified analysis,this association was confirmed in Asian populations:allelic model(OR:1.25;95%CI:1.13–1.37;P<0.0001),recessive model(OR:1.29;95%CI:1.11–1.49;P=0.0007),dominant model(OR:1.35;95%CI:1.20–1.52;P<0.0001),codominant model(OR:1.49;95%CI:1.22–1.81;P<0.0001)(OR:1.26;95%CI:1.16–1.36;P<0.0001).In non-Asian populations,this association was not significant:Allelic model(OR:1.06,95%CI:0.98–1.14;P=0.12),recessive model(OR:1.04;95%CI:0.75–1.42;P=0.83),dominant model(OR:1.06;95%CI:0.98–1.15;P=0.15),codominant model(OR:1.08;95%CI:0.82–1.42;P=0.60.OR:1.15;95%CI:0.95–1.39;P=0.14).CONCLUSION KCNQ1 gene rs2237895 was significantly associated with susceptibility to T2DM in an Asian population.Carriers of the C allele had a higher risk of T2DM.This association was not significant in non-Asian populations.

Association of IL-17 polymorphisms with gastric cancer risk in Asian populations

AIM: To investigate associations between the IL-17 rs2275913 G>A and rs763780 T>C polymorphisms and susceptibility to gastric cancer in Asian populations. METHODS: We reviewed studies published up to 2014 on IL-17 polymorphisms with gastric cancer susceptibility systematically. Relevant articles were identified in the MEDLINE, Science Citation Index, Cochrane Library, Pub Med, EMBASE, CINAHL and Current Contents Index databases. We used version 12.0 STATA statistical software to evaluate the statistical data. Two reviewers abstracted the data independently. Odds ratios(ORs) and 95% confidence intervals(95%CIs) were calculated. RESULTS: Seven independent, case-control studies were chosen for the meta-analysis, which included 3210 gastric cancer patients and 3889 healthy controls. The overall estimation showed a positive association between the IL-17 rs2275913 G>A polymorphism and the occurrence of gastric cancer for five genetic models(all P < 0.05) and similar results were observed for the IL-17 rs763780 T>C variation with four genetic models(all P < 0.05), but not for the dominant model(P > 0.05). Subgroup analysis by country revealed that the rs2275913 G>A and rs763780 T>C polymorphisms may be the main risk factor for gastric cancer in Chinese and Japanese populations. CONCLUSION: The IL-17 gene may be significantly correlated with gastric cancer risk in Asian populations, especially those carrying the rs2275913 G>A and rs763780 T>C polymorphisms.

Population and Food in Asian Developing Countries

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The Use of Lipoprotein-Associated Phospholipase A2 in a Chinese Population to Predict Cardiovascular Events

Objective To explore associations between lipoprotein-associated phospholipase A2(Lp-PLA2)and the risk of cardiovascular events in a Chinese population,with a long-term follow-up.Methods A random sample of 2,031 participants(73.6%males,mean age=60.4 years)was derived from the Asymptomatic Polyvascular Abnormalities Community study(APAC)from 2010 to 2011.Serum Lp-PLA2 levels were determined by enzyme-linked immunosorbent assay(ELISA).The composite endpoint was a combination of first-ever stroke,myocardial infarction(MI)or all-cause death.Lp-PLA2 associations with outcomes were assessed using Cox models.Results The median Lp-PLA2 level was 141.0 ng/m L.Over a median follow-up of 9.1 years,we identified 389 events(19.2%),including 137 stroke incidents,43 MIs,and 244 all-cause deaths.Using multivariate Cox regression,when compared with the lowest Lp-PLA2 quartile,the hazard ratios with95%confidence intervals for developing composite endpoints,stroke,major adverse cardiovascular events,and all-cause death were 1.77(1.24–2.54),1.92(1.03–3.60),1.69(1.003–2.84),and 1.94(1.18–3.18)in the highest quartile,respectively.Composite endpoints in 145(28.6%)patients occurred in the highest quartile where Lp-PLA2(159.0 ng/m L)was much lower than the American Association of Clinical Endocrinologists recommended cut-off point,200 ng/m L.Conclusion Higher Lp-PLA2 levels were associated with an increased risk of cardiovascular event/death in a middle-aged Chinese population.The Lp-PLA2 cut-off point may be lower in the Chinese population when predicting cardiovascular events.

Choledochal cysts: Similarities and differences between Asian and Western countries

Choledochal cysts(CCs)are rare bile duct dilatations,intra-and/or extrahepatic,and have higher prevalence in the Asian population compared to Western populations.Most of the current literature on CC disease originates from Asia where these entities are most prevalent.They are thought to arise from an anomalous pancreaticobiliary junction,which are congenital anomalies between pancreatic and bile ducts.Some similarities in presentation between Eastern and Western patients exist such as female predominance,however,contemporary studies suggest that Asian patients may be more symptomatic on presentation.Even though CC disease presents with an increased malignant risk reported to be more than 10%after the second decade of life in Asian patients,this risk may be overstated in Western populations.Despite this difference in cancer risk,management guidelines for all patients with CC are based predominantly on observations reported from Asia where it is recommended that all CCs should be excised out of concern for the presence or development of biliary tract cancer.

Helicobacter pylori infection and inflammatory bowel disease in Asians:A meta-analysis

AIM: To investigate the relationship between Helicobacter pylori infection and inflammatory bowel disease(IBD) in an Asian population.METHODS: The Pub Med, EMBASE, and CochraneLibrary databases were searched for observational studies published up until June 2014, without language restrictions. Additional references were obtained from reviewed articles. RESULTS: Ten studies involving 1299 IBD patients and 1817 controls were included in the meta-analysis(24.9% of IBD patients had H. pylori infection vs 48.3% of the controls). The pooled risk ratio for H. pylori infection in IBD patients compared with controls was 0.48(95%CI: 0.43-0.54; P < 0.001). There was no significant heterogeneity in the included studies(I2= 21%). Egger's linear regression indicated that there was no significant publication bias(P = 0.203).CONCLUSION: The H. pylori infection rate in Asian IBD patients is significantly lower than in non-IBD patients, indicating that infection protects against the development of IBD.

Dabigatran,rivaroxaban,and apixaban are superior to warfarin in Asian patients with non-valvular atrial fibrillation:An updated metaanalysis

BACKGROUND Most of the randomized clinical trials that led to the wide use of non-vitamin K antagonist oral anticoagulants for stroke prevention in patients with atrial fibrillation(AF)originated from western countries.AIM To systematically review and quantitatively synthesize the real-world data regarding the efficacy and safety of dabigatran,rivaroxaban,and apixaban compared to warfarin for stroke prevention in Asian patients with non-valvular AF.METHODS Medline,Cochrane,and ClinicalTrial.gov databases were reviewed.A randomeffect model meta-analysis was used and I-square was utilized to assess the heterogeneity.The primary outcome was ischemic stroke.The secondary outcomes were all-cause mortality,major bleeding,intracranial hemorrhage,and gastrointestinal bleeding.RESULTS Twelve studies from East Asia or Southeast Asia and 441450 patients were included.Dabigatran,rivaroxaban,and apixaban were associated with a significant reduction in the incidence of ischemic stroke[hazard ratio(HR)=0.78,95%confidence interval(CI):0.65-0.94;HR=0.79,95%CI:0.74-0.85,HR=0.70,95%CI:0.62-0.78;respectively],all-cause mortality(HR=0.68,95%CI:0.56-0.83;HR=0.66,95%CI:0.52-0.84;HR=0.66,95%CI:0.49-0.90;respectively),and major bleeding(HR=0.61,95%CI:0.54-0.69;HR=0.70,95%CI:0.54-0.90;HR=0.58,95%CI:0.43-0.78;respectively)compared to warfarin.CONCLUSION Dabigatran,rivaroxaban,and apixaban appear to be superior to warfarin in both efficacy and safety in Asians with non-valvular AF.

亚洲人群维生素D受体基因多态性和骨质疏松症相关性研究进展

骨质疏松症(osteoporosis, OP)是一种随年龄增加患病率不断提高的全球性骨骼疾病,主要受遗传因素与环境因素双重作用的控制,它所引起的最恶性的结果是出现骨质疏松性骨折,危害老年群体的身心健康,增加此人群的死亡风险。维生素D受体(Vitamin D receptor, VDR)基因在调节骨代谢和调控钙稳态方面发挥至关重要的作用。迄今为止,有许多研究对VDR基因多态性和OP之间的联系进行了探究,但研究结果往往具有较大争议。因此,该文以探究亚洲人群VDR基因多态性与发生OP的联系为目的,从ApaⅠ位点多态性、BsmⅠ位点多态性、TaqⅠ位点多态性以及FokⅠ位点多态性与OP相关性4个方面作综述,并根据国内外各研究结果以及相关位点的位置特征进行总结,对进一步研究进行展望,以期为如何筛查亚洲OP易感人群及制定相关预防、治疗OP的策略提供思路。

基于高密度SNP数据的东亚人群遗传结构研究

目的东亚疆域辽阔,民族众多,有着广泛多样的语言。中国34个省级行政区可划分为7个地理分区,人群主要分属世界七大语系。已有研究主要集中在东亚人群的起源、迁徙、融合等遗传历史。本文基于5147份世界人群个体的高密度单核苷酸多态性(SNP)数据,从地域及语言两个角度研究东亚人群尤其是中国人群与世界其他人群的遗传关系,研究中国人群的遗传关系和遗传结构。方法收集了5147份世界人群个体的高密度SNP数据,并对其进行质控、合并。通过频率差异分析方法对最终获得的32789个SNP进行统计学检验,并进一步使用主成分分析、系统发育树、祖先成分分析和D检验统计等方法,对东亚人群与世界其他人群的遗传关系,以及中国人群的遗传关系和遗传结构进行研究。结果研究发现东亚人群与非洲、美洲和欧洲人群存在显著差异。中国人群可分为7个亚群,不同人群间的遗传聚类与其地理分布、语系语族和族源历史有很强的相关性。结论本文研究了中国人群与世界人群的遗传关系和差异,并系统研究了中国人群的遗传亚结构。这将丰富东亚人群的群体遗传学、法医遗传学等研究基础,为个体化医疗等工作提供数据支撑。

亚洲玉米螟性信息素鉴定及其应用研究进展

【目的】综述近年来国内外关于亚洲玉米螟性信息素鉴定、综合防控及应用的研究进展,为亚洲玉米螟的监测预警、绿色防控等技术提供参考依据。【方法】运用文献统计学方法收集资料及调研,分析国内外亚洲玉米螟性信息素防治技术研究与应用的进展。【结果】亚洲玉米螟在中国、韩国、日本、菲律宾等国家均有分布,雌性个体通过释放性信息素吸引雄性继而交配;鉴定亚洲玉米螟主要性信息素组分为顺/反-12-十四碳烯醇乙酸酯(Z/E-12-14:Ac)和正十四碳醇乙酸酯(14:Ac),各组分作用不同,组分间比例存在地理种群差异;亚洲玉米螟性信息素产品已运用于监测、诱杀与交配干扰中,与其它防治技术相结合的集成技术防效显著;应用过程中存在多种影响性信息素诱剂诱捕效率的因素,包括性信息素剂量、诱捕器类型、放置高度、颜色及环境等。【结论】亚洲玉米螟在多个国家的玉米种植区均有分布,亚洲玉米螟性信息素比例存在地理种群差异,利用性信息素最佳组分系统结合影响性诱剂诱捕效率的多种因素,在田间防控亚洲玉米螟取得了较好效果,我国已组装、集成一套基于性信息素防控亚洲玉米螟绿色防治技术。

近五十年来野生亚洲象的种群动态

亚洲象(Elephas maximus)是亚洲热带森林生态系统的旗舰物种,在增加物种丰富度和维持生态系统服务功能等方面扮演着重要角色。受到栖息地丧失和退化、非法盗猎和人象冲突等因素影响,世界野生亚洲象的分布和数量与过去相比大幅减少。为探究野生亚洲象分布及数量变化以及当前保护需要关注的重点,本文综述了近50年来亚洲象现存分布的南亚、东南亚以及中国的历史分布、数量动态、威胁因素、传统文化、法律法规和保护行动计划等方面的研究,得出以下结论:(1)近50年来,全球野生亚洲象数量动态呈现先下降后增长的趋势,1970—2000年持续下降,2000—2010年数量逐步增长,2010年至今缓慢下降;(2)南亚地区是稳定全球野生亚洲象种群的重要区域,主要是由于及时立法、传统文化保护等;而东南亚地区亚洲象种群持续下降,主要是受东南亚地区森林砍伐、非法盗猎等影响,印度尼西亚、婆罗洲等区域森林栖息地大面积丧失是数量不断下降的主要原因,缅甸和泰国地区数量下降的主要原因是非法盗猎和走私;(3)南亚地区的现存栖息地相对集中,东南亚地区破碎栖息地较多,缅甸还拥有较多的潜在分布区;(4)当前世界野生亚洲象面临的主要威胁是栖息地丧失和退化、盗猎和非法贸易、人象冲突等,基础设施建设、跨境困难、孤立种群等问题也不容忽视。科学合理的保护措施应当因地制宜,在开展充分的科学研究基础上,结合实际情况制定详细可行的保护计划。

Population viability analysis of small population:a case study for Asian elephant in China

Small populations are at risk of extinction from deterministic and stochastic factors.Less than 250 Asian elephants(Elephas maximus)remain in China,and are distributed in a few isolated areas;yet,population viability analyses of this endangered population have not been conducted.Here,the current genetic status of the Pu’Er-Mengyang Asian elephant populations in China was analyzed,and the risk of extinction was predicted over the next 500 years.Factors affecting the viability of this population were determined through simulations.The genetic diversity of the population was very low(mean allele number:3.1;expected heterozygosity:0.463),even though a recent population bottleneck was not detected.The effective population size was approximately 24.1 adult elephants.Enough adult breeding individuals exist to maintain population viability.VORTEX simulation model showed that this population would not go extinct in the next 500 years.However,illegal poaching and harvesting could negatively affect population size.A sensitivity analysis showed that the mean stochastic growth rate of the study population is sensitive to sex ratio,number of breeding females,mortality of females of different age classes,carrying capacity,and lethal equivalents.Based on our results,we suggest that action should be taken to alleviate inbreeding and any further loss of genetic diversity,by connecting fragmented elephant habitat or by translocating individual elephants.In addition,human–elephant conflict should be mitigated using various modern approaches,including crop guarding techniques,and by encouraging farmers to switch to crops and income sources not vulnerable to elephant raids.

Population-based carrier screening and prenatal diagnosis of fragile X syndrome in East Asian populations

Identification of carriers of fragile X syndrome(FXS) with the subsequent prenatal diagnosis and knowledge of FXS-associated genetic profiles are essential for intervention in specific populations. We report the results of carrier screening of 39,458 East Asian adult women and prenatal diagnosis from 87 FXS carriers.The prevalence of FXS carriers and full mutation fetuses was estimated to be 1/581 and 1/3124 in East Asian populations, respectively. We confirmed the validity of the current threshold of CGG trinucleotide repeats for FMR1 categorization;the integral risks of full mutation expansion were approximately 6.0%,43.8%, and 100% for premutation alleles with 55—74, 75—89, and ≥ 90 CGG repeats, respectively. The protective effect of AGG(adenine-guanine-guanine nucleotides) interruption in East Asian populations was validated, which is important in protecting premutation alleles with 75—89 CGG repeats from full mutation expansion. Finally, family history was shown not an effective indicator for FXS carrier screening in East Asian populations, and population-based screening was more cost-effective. This study provides an insight into the largest carrier screening and prenatal diagnosis for FXS in East Asian populations to date. The FXSassociated genetic profiles of East Asian populations are delineated, and population-based carrier screening is shown to be promising for FXS intervention.

Association of MBOAT7 rs641738 polymorphism with hepatocellular carcinoma susceptibility:A systematic review and meta-analysis

BACKGROUND The MBOAT7 rs641738 single-nucleotide polymorphism(SNP)has been proven to influence various liver diseases,but its association with hepatocellular carcinoma(HCC)susceptibility has been debated.To address this discrepancy,we conducted the current systematic review and meta-analysis.AIM To perform a systematic review and meta-analysis on association of MBOAT7 SNP and HCC susceptibility.METHODS We performed a systematic review in PubMed,Web of Science,Scopus,and EMBASE;applied specific inclusion and exclusion criteria;and extracted the data.Meta-analysis was conducted with the meta package in R.Sensitivity and subgroup analyses were also performed.This meta-analysis was registered in PROSPERO(CRD42023458046).RESULTS Eight studies were included in the systematic review,and 12 cohorts from 6 studies were included in the meta-analysis.Our meta-analysis revealed an association between the MBOAT7 SNP and HCC susceptibility in both the dominant[odds ratio(OR):1.14,95%confidence interval(95%CI):1.02-1.26,P=0.020]and recessive(OR:1.21,95%CI:1.05-1.39,P=0.008)models.Subgroup analysis revealed that stratification of the included patients by geographical origin showed a significant association in Asia(OR:1.20,95%CI:1.03-1.39).CONCLUSION This meta-analysis underscores the contribution of the MBOAT7 rs641738 SNP to hepatocarcinogenesis,especially in Asian populations,which warrants further investigation.

Identification of novel loci influencing refractive error in East Asian populations using an extreme phenotype design

The global "myopia boom" has raised significant international concerns. Despite a higher myopia prevalence in Asia, previous large-scale genome-wide association studies(GWASs) were mostly based on European descendants. Here, we report a GWAS of spherical equivalent(SE) in 1852 Chinese Han individuals with extreme SE from Guangzhou(631 <-6.00 D and 574 > 0.00 D) and Wenzhou(593 <-6.00 D and54 >-1.75 D), followed by a replication study in two independent cohorts with totaling 3538 East Asian individuals. The discovery GWAS and meta-analysis identify three novel loci, which show genome-wide significant associations with SE, including 1 q25.2 FAM163 A, 10 p11.22 NRP1/PRAD3, and 10 p11.21 ANKRD30 A/MTRNR2 L7, together explaining 3.34% of SE variance. 10 p11.21 is successfully replicated.The allele frequencies of all three loci show significant differences between major continental groups(P < 0.001). The SE reducing(more myopic) allele of rs10913877(1 q25.2 FAM163 A) demonstrates the highest frequency in East Asians and much lower frequencies in Europeans and Africans(EAS = 0.60,EUR = 0.20, and AFR = 0.18). The gene-based analysis additionally identifies three novel genes associated with SE, including EI24, LHX5, and ARPP19. These results provide new insights into myopia pathogenesis and indicate the role of genetic heterogeneity in myopia epidemiology among different ethnicities.

西双版纳国家级自然保护区勐腊子保护区亚洲象种群和栖息地评价

通过社区村寨访问、监测网络、痕迹追踪和生态位因子分析(ENFA)等方法对西双版纳国家级自然保护区勐腊子保护区内亚洲象的种群和栖息地状况进行研究。结果显示:2007年勐腊子保护区的亚洲象种群数量约为25—32头,2009年其数量增至35—42头;2006—2007年期间,亚洲象的分布区包含保护区东南部和东部的两片区域,面积共221 km2,占保护区总面积的19.2%;象群在分布区内开辟了固定的活动路线,总长约65 km,它们利用这些路线巡回取食天然植物和农作物并导致严重的人象冲突;栖息地评价研究表明亚洲象对栖息地具有一定的选择偏好性,保护区内亚洲象喜好的栖息地面积为328.5 km2,仅占保护区总面积的28.5%,且主要被分为两大斑块1和2,分别位于保护区的东南部和西北部。

尚勇保护区亚洲象种群数量动态、种群结构及季节分布格局

在2006年6月至2007年9月,通过种群个体识别、社区监测网络、样线调查和村寨访问等方法对尚勇保护区亚洲象的种群动态和季节性分布格局进行研究。结果显示:目前在尚勇保护区的亚洲象种群数量约为68头;拍摄到亚洲象共计347头次,通过个体识别方法识别出亚洲象53头,其中幼体、青少年体、亚成体和成体数量及所占比例分别为:3(5.66%)、11(20.75%)、15(28.30%)、24(45.28%),在成体中雄性只有两头,成年象的雌雄性比为11:1,高于已知国内外的其他区域。从1992年至2007年10月,至少有32头亚洲象死亡,其中确认死于猎杀的有7头,保护区的核心区野牛河、金宝河一带是盗猎亚洲象最严重的地区。严重的盗猎和不断减少的栖息地对当地的亚洲象种群产生了巨大的威胁,也加剧了当地的人象冲突。在雨季和旱季,亚洲象各有五个核心活动区域,食物是导致雨季和旱季分布格局不同的主要因素。

不同地理种群和不同化性亚洲玉米螟的有效积温和存活率的研究

[目的]为了研究不同地理种群和不同化性亚洲玉米螟的有效积温和存活率。[方法]采用直线最优法对采自我国北方不同地区的亚洲玉米螟一化性、二化性、三化性种群的有效积温和存活率进行了研究。[结果]一化性种群有效积温最高,二化性种群次之,三化性种群最低;除成虫外,其它虫态(卵、幼虫和蛹)的发育起点温度均为三化性的最高,二化性居中,一化性最低,成虫则刚好相反。在每一个供试温度(152、02、53、03、5℃)下一化性的存活率最高,二化性次之,三化性最低。[结论]在供试的5个温度梯度中,25℃是亚洲玉米螟发育的最适温度,不同地理种群和不同化性的亚洲玉米螟的生物学特性存在差异。

自然条件下柑桔木虱种群扩散规律调查

柑桔木虱Diaphorina citri为害是柑桔黄龙病的主要传播途径,明确了桔园中柑桔木虱扩散规律,就掌握了柑桔黄龙病传播蔓延趋势。2016年3月至2017年5月在广西金秀县桐木镇一个具有特殊条件的新建沙糖桔园,开展柑桔木虱种群自然扩散规律调查。结果表明,柑桔木虱传入新果园,先形成"中心虫株",再向外扩散;风是自然条件下影响柑桔木虱种群扩散的主要因子,柑桔木虱扩散与风具有明显正相关性,扩散趋势与风向基本吻合,呈现以"中心虫株"为头部的慧星状扩散;在无台风异常天气影响下,柑桔木虱种群一年的扩散距离约为105m。

亚洲出生性别比失衡对人口转变理论的扩展

亚洲在人口转变的过程中,伴随着生育率的下降,出生性别比出现了持续升高的现象,这与西欧人口转变中出生性别比一直处于正常范围内有显著区别。出生性别比在维持高位一段时间后,出现了反转的现象,典型的表现是韩国,已经完成了从高出生性别比水平恢复到正常范围内。鉴于亚洲部分国家的这一特殊现象,本文试图探讨亚洲出生性别比变动模式以及在经典人口转变理论基础上进行扩展,尝试构建更为具体和全面的亚洲人口转变模型。