前列腺六次跨膜蛋白2基因变异与维吾尔族人群代谢指标及肿瘤坏死因子的关系

 目的 探讨前列腺六次跨膜蛋白2(STAMP2)基因功能区变异与新疆维吾尔族人群代谢指标及TNFα的关系。方法 采用以流行病学调查为基础的病例研究,选取维吾尔族个体894例,以TNFα水平分组:高水平组(TNFα≥7.95 μg/L)313例,中水平组(TNFα>5.34~<7.95 μg/L)268例,低水平组(TNFα≤5.34 μg/L)313例。首先在小样本代谢综合征患者中测序筛查STAMP2基因的变异位点,采用TaqMan-PCR方法在大样本人群中进行基因型鉴定及关联研究。结果 在STAMP2基因功能区选取3个代表性变异位点(rs8122、rs1981529和rs34741656),rs8122和 rs1981529的基因型及等位基因分布在不同TNFα水平3组间差异有统计学意义(P<0.05),rs34741656的基因型及等位基因分布在3组间差异无统计学意义(P>0.05)。方差分析发现rs1981529多态AA基因型与AG基因型间的TNFα水平差异有统计学意义[(2.77±0.33) μg/L比(2.83±0.31) μg/L,P<0.05], STAMP2不同基因型间的TC、HDL-C、LDL-C、TG水平差异无统计学意义(P>0.05)。结论STAMP2基因变异与新疆维吾尔族人群TNFα相关。         

MK2基因与新疆维吾尔族女性三酰甘油的关联

目的:探讨MK2基因多态性与新疆和田地区维吾尔族女性三酰甘油（TG）的相关性。方法: 采用整群随机抽样方法抽取590个维吾尔族女性作为研究对象,检测其血脂水平以及肿瘤坏死因子-α（TNF-α）,并在48例维吾尔族血脂异常人群中测序筛查MK2基因功能区的变异位点,选取代表性变异位点,应用TaqMan-PCR在大样本人群中进行基因型鉴定及病例-对照研究。结果: MK2基因rs44890位点CC、CT、TT 3种基因型及C、T等位基因在TG正常组、TG边缘异常组、TG升高组分布频率差异具有统计学意义（P=0.023和0.004）;rs44890的不同基因型间TG差异无统计学意义,但有逐渐减少的趋势（CC>CT>TT）,同时还发现TNF-α在3种基因型间有逐渐减小的趋势（CC>CT>TT）,但差异无统计学意义;显性模型中,rs44890位点CT+TT基因型与TT基因型TG差异具有统计学意义（CC>CT+TT,P=0.021）。维吾尔族女性人群中rs45514798不同基因型间TG水平差异均无统计学意义。结论: MK2基因rs45514798位点与新疆维吾尔族女性TG不相关,rs44890位点与维吾尔族女性TG的关系有待进一步研究。     

KCNQ1、SRR基因多态性与维吾尔族及汉族2型糖尿病的相关性研究

目的 探讨KCNQ1基因rs231362,rs2237892位点,SRR基因rs391300位点基因多态性与维吾尔族、汉族T2DM的相关性。方法 选取T2DM患者577例作为病例组,其中维吾尔族284例,汉族293例。从人类基因组单体型图中选取正常对照组307名,其中维吾尔族99名,汉族208名。用Hardy-Weinberg平衡检验样本群体代表性,采用imLDRTM多重SNP分型技术检测KCNQ1基因rs231362、rs2237892位点,SRR基因rs391300位点的基因多态性。结果 维吾尔族病例组KCNQ1基因rs231362位点A等位基因频率低于对照组[OR(95%CI)0.34(0.25~0.48),P0.001];KCNQ1基因rs2237892位点T等位基因频率高于对照组[OR(95%CI)2.00(1.12~3.56),P0.05];KCNQ1基因rs2237892位点在维吾尔族女性病例组T等位基因频率高于对照组[OR(95%CI)2.59(1.13~5.93),P0.05];维吾尔族男性病例组SRR基因rs391300位点T等位基因频率低于对照组[OR(95%CI)0.59(0.36~0.96),P0.05]。结论 在新疆维吾尔族人群中,初步观察到KCNQ1基因rs231362位点A等位基因可能是发生T2DM的保护因子,KCNQ1基因rs2237892位点T等位基因可能是发生T2DM的易感因子,对于维吾尔族女性亦如此;SRR基因rs391300位点T等位基因可能是维吾尔族男性的保护因子。     

血管紧张素Ⅱ2型受体基因多态性与男性高血压病的相关研究

目的检测血管紧张素Ⅱ2型受体基因的单核苷酸多态性（SNP）并探讨其与山东地区汉族男性高血压病（EH）之间的关系。方法应用直接测序的方法在随机选择的20例男性EH中对血管紧张素Ⅱ2型受体基因作SNP的筛查,同时在96例EH男性患者和107例正常对照男性人群中评价这些SNP与EH的关系。结果共发现了7个SNP,其中有4个SNP在本研究中初次发现。对其中2个SNP（A1675G和T1334C）进行病例对照研究,发现A1675G位点上男性EH患者中A等位基因频率与正常对照组相比差异有统计学意义（EH组A等位基因频率为49．0％,正常组为34．6％,P 〈 0．05）。结论血管紧张素Ⅱ2型受体基因的A1675G单核苷酸多态性可能与山东地区男性EH患者相关。     

白细胞介素6基因多态性与原发性高血压的关系

目的 :探讨白细胞介素 6 (IL 6 )基因 - 5 97G/A和 - 5 72C/G多态性与湖北地区汉族人群原发性高血压 (EH)的关系。方法 :以人群为基础进行EH病例 对照研究 ,应用PCR RELP技术对 10 2例EH患者和 112例正常对照者的IL 6基因 - 5 97G/A和 - 5 72C/G多态性进行分析。结果 :湖北地区汉族人群IL 6基因 - 5 97位点仅发现有GG基因型 ,未见GA和AA基因型 ;- 5 72位点以CC和CG基因型占优势。EH组 - 5 72CG +GG基因型频率及G等位基因频率分别为 5 9%和 34% ,均显著高于对照组 (P <0 .0 1) ;相对于CC基因型 ,暴露于CG基因型、GG基因型的相对危险度分别为 2 .0 2 (95 %CI:1.15～ 3.5 7,P <0 .0 5 )和 7.12 (95 %CI:2 .18～ 2 3.2 0 ,P<0 .0 1)。EH组不同基因型间总胆固醇、三酰甘油、血糖、体重指数差异均无显著性意义 (P >0 .0 5 )。结论 :湖北地区汉族人群可能不存在IL 6基因 - 5 97G/A多态性 ,而 - 5 72位点CG +GG基因型可能是此人群EH的易感基因型     

血管紧张素Ⅱ2型受体基因多态性与男性高血压及左心室肥厚的关系

目的探讨血管紧张素Ⅱ2型受体基因的单核苷酸多态性（SNP）与男性原发性高血压（EH）及左心室肥厚之间的关系。方法应用直接测序的方法在211例男性EH患者和187例男性正常对照人群中对血管紧张素Ⅱ2型受体基因作SNP分型,按心脏超声特点将男性EH患者分为左心室肥厚（LVH）组82例及无LVH组129例,评价SNP与EH及LVH的关系。结果男性EH患者A1675G位点中A等位基因频率与正常对照者相比差异有统计学意义（P〈0.05）;有无LVH患者A1675G多态性各基因型构成均无统计学意义（P〉0.05）。结论血管紧张素Ⅱ2型受体基因的A1675G单核苷酸多态性与男性EH发病相关。     

新疆维吾尔族及汉族脑梗死病人ALOX5AP基因rs4293222位点多态性比较分析

目的探讨新疆维吾尔族及汉族脑梗死病人5-脂氧合酶激活蛋白(ALOX5AP)基因rs4293222位点多态性的差异。方法采用病例-对照研究方法,利用聚合酶链反应和DNA基因测序法对100例病人ALOX5AP基因rs4293222位点多态性的各基因型及等位基因频率多态性进行测定,比较新疆地区维吾尔族和汉族脑梗死病人不同基因型的差异,并统计结果。结果维吾尔族与汉族ALOX5AP基因rs4293222位点比较,差异无统计学意义(P0.05)。结论汉族和维吾尔族脑梗死ALOX5AP基因rs4293222位点基因型和基因频率无差异。     

新疆维吾尔族人β2肾上腺素能受体基因多态性与原发性高血压的相关性

目的探讨β₂肾上腺素能受体（β₂-AR）基因Arg16Gly和Gln27Glu多态性在新疆维吾尔族人原发性高血压（EH）发病中的作用。方法应用TaqMan技术检测了367例新疆维吾尔族EH患者及408例正常血压对照者Arg16Gly和Gln27Glu多态性。结果 Arg16Gly和Gln27Glu多态性在新疆维吾尔族群体中分布均符合Hardy-Weinberg平衡;Arg16GlyGG、AG、AA基因型频率和Gln27GluGG、CG和CC基因型频率在EH组和正常血压组间差异无统计学意义（P>0.05）。EH组和正常血压组间Arg16Gly及Gln27Glu位点的G等位基因频率分别为46.0%、42.5%和22.3%、24.5%,差异无统计学意义（P>0.05）。结论β₂-AR基因Arg16Gly和Gln27Glu多态位点可能不是新疆维吾尔族人群原发性高血压的遗传易感指标。     

贵州汉族、苗族和布依族原发性高血压与载脂蛋白E基因单核苷酸多态性的关系

目的 探讨载脂蛋白E(ApoE)基因单核苷酸多态性(SNP)与贵州汉族、苗族、布依族人群原发性高血压(EH)的关联性。方法 通过病例-对照研究方法,选取贵州雷山苗族、荔波布依族及贵阳汉族原发性高血压患者343例(苗族110例,布依族119例,汉族114例)和健康对照335例(苗族111例,布依族117例,汉族107例),并收集年龄、性别、身高、体质量、空腹血糖、总胆固醇、三酰甘油等临床资料和生化指标,采用t检验或χ²检验比较两组临床资料与生化指标的差异。分别采用Sequenom MassARRAY和竞争性等位基因特异性PCR(KASP)基因分型技术对以上人群ApoE基因5个SNP位点(rs7259620、rs440446、rs769449、rs1065853、rs439401)和2个SNP位点(rs429358、rs7412)进行基因分型,采用logistic回归分析ApoE基因多态性与贵州人群EH的遗传关系。结果 在贵州苗族和布依族人群中,没有发现与EH关联的SNP位点。汉族人群rs439401等位基因及基因型在EH组和对照组的分布差异具有统计学意义(χ     

线粒体融合基因2新变异位点A-35G与原发性高血压的相关性研究

目的:线粒体融合基因2(Mfn2)是一个与原发性高血压(EH)易感性相关的基因。本研究的目的是探讨该基因上游未编码区的单核苷酸位点变异与EH的相关性。方法:筛选健康正常血压(NT组)者342人和EH组患者366例。进行常规体检和血压、血脂及血糖等检查。提取静脉血DNA,设计引物进行PCR扩增后,进行测序。然后计算相关变异位点的等位基因和基因型在二组人群中分布的频率,并进一步分析其与EH的相关性。结果:SNPdb数据库检索表明A-35G是一个新的Mfn2启动子区的变异位点。该位点在NT组和EH组中基因型频率和基因频率均存在着明显的差别,即AA、AG、GG的频率分别为290(79.3%)/245(71.5%)、8(2.2%)/9(2.7%)、68(18.5%)/88(25.8%),A、G分别为588(80.1%)/499(73.0%)、144(19.7%)/185(27.0%)。进一步按性别分组后显示:在男性NT组和EH组中基因型频率和基因频率也存在着明显的差别,即AA、AG、GG的频率分别为157(79.3%)/143(73.2%)、4(1.9%)/3(1.7%)、40(20.0%)/49(25.1%),A、G分别为588(80.1%)/499(73.0%)、144(19.7%)/185(27.0%)。在女性NT组和EH组中基因型频率和基因频率不存在着明显的差别(P0.05)。在经过年龄和性别调整后进行相关性分析发现A-35G、体质指数、身高和体重与EH发病明显相关。结论:A-35G是一个新的Mfn2启动子区的变异位点,基因频率和基因型频率在EH和男性EH组中明显高于正常对照组。相关性分析表明该变异也与EH的发病存在明显相关。因此,A-35G可能是EH发病的独立危险因素。     

骨形态发生蛋白7基因变异与新疆维吾尔族人群高甘油三酯血症相关

目的 探讨骨形态发生蛋白7(BMP7)基因变异与新疆维吾尔族人群血脂异常的关系.方法 选取1514例新疆维吾尔族人群作为研究对象.测序筛查BMP7基因功能区的变异位点,选取代表性变异位点应用TaqMan-PCR技术在大样本人群中进行基因型鉴定,并开展病例-对照关联研究.结果 在BMP7基因的功能区共发现5个新的和8个已知的变异位点.BMP7基因的2个代表性变异位点rs6025422、rs17480735均符合Hardy-Weinberg平衡.rs6025422变异的AA、AG、GG基因型在高甘油三酯血症组及对照组中的频率分布存在统计学差异(P=0.001),并且AA、AG、GG基因型的甘油三酯水平呈现递减趋势.应用logistic回归分析校正性别、年龄、体质指数、血压、吸烟及饮酒因素的影响后显示,rs6025422变异与高甘油三酯血症显著相关(OR:0.562,95%CI:0.393～0.802,P=0.002).结论 BMP7基因变异位点rs6025422可能与新疆维吾尔族人高甘油三酯血症相关.

Abstract：

Objective To analyze the association between the genetic variations of functional region in bone morphogenetic protein ( BMP7 ) gene and dyslipidemia in Chinese Uygur individuals. Methods The case-control study was conducted in 1514 Uygur Chinese based on epidemiological investigation. The all exons, segmental introns and the promoter regions of BMP7 gene were sequenced in 48 out of 1514 Uygur Chinese. Representative variations were then selected according to the minor allele frequency (MAF) and linkage disequilibrium, and genotyped using the TaqMan polymerase chain reaction method in 1514 Uygur Chinese, a relatively isolated general population in a relatively homogeneous environment, to observe the association between genetic variations of BMP7 gene and dyslipidemia. Results Five novel and eight known variations in the BMP7 gene were identified. All genotype distributions were tested for deviations from HardyWeinberg equilibrium. There were significant differences of genotype distribution of rs6025422 between hypertriglyceridemia group and control group ( P = 0. 001 ). The levels of triglyceride (TG) showed a decreasing teadency in individuals with AA, AG and GG genotypes of rs6025422. Odd ratio (OR) value adjusted for age, gender, body mass index, smoking and alcohol drinking habits was 0. 562 by logistic regression analysis (95% CI: 0. 393 - 0. 802, P = 0. 002 ). Concluslon The present study shows rs6025422 polymorphism in the BMP7 gene is linked with hypertriglyceridemia phenotype in Uygur Chinese population.     

A haplotype of the CYP4A11 gene associated with essential hypertension in Japanese men

OBJECTIVE: CYP4A11, a member of the cytochrome P450 family, acts mainly as an enzyme that converts arachidonic acid to 20-hydroxyeicosatetraenoic acid, a metabolite involved in blood pressure regulation in humans. Disruption of the murine cyp4a14 and cyp4a10 genes, homologues of human CYP4A11, was reported recently to cause hypertension. The gene-disrupted male mice had higher blood pressure than the gene-disrupted female mice. The present study aimed to assess the association between the human CYP4A11 gene and essential hypertension, using a haplotype-based case-control study including separate analysis of the gender groups. METHODS: The 304 essential hypertension patients and 207 age-matched control individuals were genotyped for three single-nucleotide polymorphisms of the human CYP4A11 gene (rs2269231, rs1126742, rs9333025). Data were assessed for three separate groups: total participants, men and women. RESULTS: For total participants, the genotypic distribution of rs1126742 differed significantly between the two groups (P = 0.005). For total participants, men and women, the recessive model (CC versus TC + TT) of rs1126742 differed significantly between the two groups (P = 0.007, P = 0.043, and P = 0.045, respectively). Logistic regression analysis showed the TC + TT genotype was significantly higher in essential hypertension patients than in control individuals for total participants and men (P = 0.022 and P = 0.043, respectively). The A-T-G haplotype frequency (established by rs2269231, rs1126742, rs9333025) was significantly higher in essential hypertension men than in control men (P = 0.043). CONCLUSIONS: Essential hypertension is associated with the TC + TT genotype of rs1126742 in the human CYP4A11 gene. The A-T-G haplotype appears a useful genetic marker of essential hypertension in Japanese men.     

Genetic variation in the ASIC3 gene influences blood pressure levels in Taiwanese

BACKGROUND: The acid-sensing ion channel 3 (ASIC3) is a ligand-gated cation channel activated by extracellular protons, and is associated with an exercise-induced pressor reflex and possibly autonomic imbalance. METHODS: To test the statistical association between genetic polymorphisms of the ASIC3 gene and blood pressure (BP) variations in Taiwanese, 551 unrelated individuals (286 men and 265 women) were recruited from a routine health examination. The participants had no prior history of cardiovascular disease or medication use for hypertension. RESULTS: Six ASIC3 gene polymorphisms were genotyped; three were polymorphic, and only the rs2288646 polymorphism was associated with variations in BP among participants. Significantly higher systolic, diastolic, and mean BP were observed in participants carrying the rs2288646-A allele (P=0.034, 0.023, and 0.010, respectively). Significantly higher frequencies of the rs2288646-A-containing genotype were observed in normotensive, prehypertensive, and hypertensive subgroups (P for trend=0.026); and in those with higher systolic and diastolic BPs (P for trend=0.005 and P for trend=0.002, respectively). The association between the rs2288646-A allele and BP persisted even after adjustment for age, sex, BMI, and other metabolic factors. When a second independent group of 403 individuals was combined with the first group of 551 (n=954), a significantly higher frequency of the rs2288646-A-containing genotype was observed in participants with hypertension (9.7 vs. 4.0%, P=0.003). CONCLUSION: Our data showed an independent association between an ASIC3 genetic polymorphism and BP variations in Taiwanese. These results suggest that the ASIC3 may be involved in BP regulation.     

Gender difference in association of NEDD4L gene variants among southern Han Chinese with essential hypertension – a population-based case–control study

Genetic variation of NEDD4L has been associated with hypertension and related phenotypes with conflicting results, probably attributable to gender-, age- and ethnicity-related variations in its phenotypic expression. We evaluated the association of three representative polymorphisms in NEDD4L (rs2288774, rs3865418 and rs4149601) with essential hypertension (EH) in a community-based sample of men (n?=?1029) and women (n?=?869) belonging to Han Chinese, Southern China, to probe whether gender interacts with NEDD4L in contributing to the risk of EH. In this population sample, rs4149601 was excluded from further analysis due to deviation from Hardy–Weinberg equilibrium. For two other variants tested, the allele frequencies and genotype distributions did not differ between cases and controls (p?>?0.05) when both genders were combined. However, sex-stratified analysis revealed that the distribution of the dominant model of rs2288774 (TC?+?CC versus TT) and the additive and dominant (CT?+?TT versus CC) models of rs3865418 differed significantly between cases and controls in men (p?=?0.044, 0.041 and 0.016, respectively) but not in women. After adjusting for confounding factors, logistic regression analysis showed that rs2288774 and rs3865418 (in the dominant model) were still significantly associated with EH (rs2288774: OR?=?0.73, 95% CI?=?0.57–0.95, p?=?0.017 and rs3865418: OR?=?0.71, 95% CI?=?0.55–0.92, p?=?0.009) in men. There was a significant interaction between the NEDD4L genotype and gender (p for interaction: 0.046 for rs2288774 and 0.033 for rs3865418). Genetic variation in NEDD4L may have sex-dependent effects in the development of EH in Han Chinese. Previous studies that ignore gender-specific effects in their design and interpretation could have failed to identify a uniform conclusion.     

Association of the six transmembrane protein of prostate 2 gene polymorphisms with metabolic syndrome in Han Chinese population

AimThe six-transmembrane protein of prostate 2 (STAMP2) has been demonstrated to play a potential role in the pathogenesis of metabolic syndrome (MetS). The present study was designed to investigate the association of STAMP2 gene polymorphisms with MetS in Han Chinese population.MethodsA case-control study enrolled 350 Han Chinese subjects in two groups: 182 MetS patients and 168 control subjects. The clinical and biochemical characteristics were determined. Three single nucleotide polymorphisms (SNPs), rs1981529, rs12386756 and rs10263111 in STAMP2 gene were genotyped. The association of STAMP2 gene polymorphisms with MetS was analyzed.ResultsSNPs rs1981529 and rs10263111 were found to be significantly associated with MetS phenotype in male population (P = 0.014 and 0.025). Moreover, SNP rs1981529 was found to be associated with high density lipoprotein-cholesterol in male cases and with body mass index in female cases (P = 0.014 and 0.049). SNP rs10263111 was found to be associated with both waist circumference and diastolic blood pressure in total cases (P = 0.044 and 0.033). Haplotype analysis yielded significant association of STAMP2 gene with MetS in total (global P = 0.0109) and male population (global P = 0.0004).ConclusionOur findings revealed that STAMP2 gene polymorphisms are likely to significantly contribute to the risk of MetS in male Han Chinese population.     

神经前体细胞表达发育调控样蛋白4基因多态性与哈萨克族高血压病的关联研究

目的 研究神经前体细胞表达发育调控样蛋白4基因(NEDD4L)变异与哈萨克族高血压病的相关性.方法 采取以人群为基础的横断面病例-对照研究方法 .采用TaqMan PCR技术对rs4149601多态性在哈萨克族自然人群中(883例;男性375例,女性508例;高血压383例,对照500例)进行分型;分析该多态性与哈萨克族高血压病的相关性;然后联合分析rs4149601与既往采用直接测序法在本人群中发现的NEDD4L基因3个代表性变异位点(296921-296923delTTG,rs2288774和rs2288775)组成的单体型与哈萨克族高血压病的相关性.结果 (1)rs4149601多态性的基因型、等位基因的分布符合Hardy-Weinberg平衡,3个代表性多态位点与rs4149601多态性间未发现有意义的连锁不平衡(r2＜0.8＝;(2)rs4149601多态性的基因型、等位基因在高血压组、对照组分布差异无统计学意义;(3)在总体、男性中,rs4149601,296921-3delTTG,rs2288774和rs2288775四个多态位点组成的单体型在高血压组、血压正常组分布差异无统计学意义;在女性中,D-C-G-G(296921-3delTTG/rs2288774/rs2288775/rs4149601)单体型在高血压组的频率高于血压正常组,且差异有统计学意义(P=0.026).结论 rs4149601多态性与哈萨克族高血压病不相关;D-C-G-G(296921-3delTTG/rs2288774/rs2288775/rs4149601)单体型可能是新疆哈萨克族人高血压病的易感因素.     

A common missense single nucleotide polymorphism in the E-selectin gene is significantly associated with essential hypertension in the Han population but only weakly associated in the Uygur population

Experimental and clinical observations suggest that E-selectin could have an important role in essential hypertension (EH), but the relationship between common E-selectin variants and EH has not been extensively studied in the Chinese population. In this study, we explored the association between two common variants in the E-selectin gene (rs5361A/C and rs5355C/T) and EH in the Uygur, Kazakh and Han populations in the Xinjiang area. A case-control study was conducted to explore the association between these two single-nucleotide polymorphisms and EH in a large sample size, including 941 EH subjects (309 Uygur, 264 Kazakh and 368 Han individuals) and 924 control subjects (300 Uygur, 275 Kazakh and 349 Han individuals). Univariate analysis showed that the rs5361 A/C polymorphism was significantly associated with EH in the Uygur (P=0.002) and Han (P=3.6 × 10(-7)) populations. The CC genotype of this SNP was present only in patients with EH in all of the three nationalities studied. Han individuals who carry the CC genotype of rs5361 were more susceptible to EH, according to the dominant models (P=1.13 × 10(-4), odds ratio=3.812, 95% confidence interval: 1.685-7.792), but there was no association of genotype with EH for the other ethnicities. No significant difference in rs5355 C/T polymorphism rate was found between the EH and control groups. Our results indicate that the common variant rs5361 is strongly associated with EH in Han individuals and weakly associated in Uygur individuals. The CC genotype of rs5361 might be an independent risk factor for EH among Uygur, Kazakh and Han individuals in the Xinjiang area.     

Expression of six transmembrane protein of prostate 2 in human adipose tissue associates with adiposity and insulin resistance

CONTEXT: Six transmembrane protein of prostate 2 (STAMP2) is a counterregulator of adipose inflammation and insulin resistance in mice. Our hypothesis was that STAMP2 could be involved in human obesity and insulin resistance. OBJECTIVE: The objective of the study was to elucidate the role of adipose STAMP2 expression in human obesity and insulin resistance. DESIGN: The design was to quantify STAMP2 in human abdominal sc and omental white adipose tissue (WAT), isolated adipocytes, and stroma and in vitro differentiated preadipocytes and relate levels of STAMP2 in sc WAT to clinical and adipocyte phenotypes involved in insulin resistance. PARTICIPANTS: Nonobese and obese women and men (n = 236) recruited from an obesity clinic or through local advertisement. MAIN OUTCOME MEASUREMENT: Clinical measures included body mass index, body fat, total adiponectin, and homeostasis model assessment as measure of overall insulin resistance. In adipocytes we determined cell size, sensitivity of lipolysis and lipogenesis to insulin, adiponectin secretion, and inflammatory gene expression. RESULTS: STAMP2 levels in sc and visceral WAT and adipocytes were increased in obesity (P = 0.0008-0.05) but not influenced by weight loss. Increased WAT STAMP2 levels associated with a high amount of body fat (P = 0.04), high homeostasis model assessment (P = 0.01), and large adipocytes (P = 0.02). Subjects with high STAMP2 levels displayed reduced sensitivity of adipocyte lipogenesis (P = 0.04) and lipolysis (P = 0.03) to insulin but had normal adiponectin levels. WAT STAMP2 levels correlated with expression of the macrophage marker CD68 (P = 0.0006). CONCLUSION: Human WAT STAMP2 associates with obesity and insulin resistance independently of adiponectin, but the role of STAMP2 in obesity and its complications seems different from that in mice.