雌激素受体α基因PvuII和XbaI多态性与原发性小乳症的关系

目的:探讨雌激素受体(ER)α基因Pvu II和Xba I多态性与小乳症的关系。方法:选取2009年12月-2011年6月我院收住的年龄18岁～45岁的小乳症的女性患者70例,以乳房大小形态正常的健康女性69例作为对照。应用聚合酶链反应-限制性片段长度多态性分析技术检测两组ERα基因的Xba I和PvuⅡ多态性。结果:ERα基因PvuII基因型分布为:小乳组pp型40%,Pp型47.14%,正常对照组分别为10.14%、68.12%,两组比较差异有统计学意义(P<0.0001,P=0.0124)。ERα基因Xba基因型分布为:小乳组xx、Xx与XX分别为77%、21%和0.10%;正常对照组:xx,Xx与XX分别为63%,10%和26%,两组比较差异有统计学意义(P<0.0001)。小乳组P/p两等位基因的OR值为0.4540(95%CI:0.2093～0.8326),即可能p基因是小乳症的易感基因。隐性基因型pp/P携带者的OR值为5.9048(95%CI:2.3622～14.7604),提示小乳症与pp基因型有关联。小乳组:X/x两等位基因的OR值为0.3054(95%CI:0.1639～0.5688),可能x基因是该疾病的易感基因;隐性基因型xx/X携带者的OR值为1.9176(95%CI:1.9121～4.0317),提示小乳症与xx基因型有关联。结论:ERα基因Pvu II和Xba I多态性与小乳症的发病有关,等位基因p和x可能是小乳症的易感基因,小乳症与pp、xx基因型有关联。     

雌激素受体基因多态性与子宫内膜异位症关联研究

目的: 通过对雌激素受体基因多态性与子宫内膜异位症 (EM) 关系的研究, 明确遗传因素对EM的影响, 从分子遗传学的角度探讨EM的发病机制、早期诊断指标及方法。方法: 取 49名病理确诊为子宫内膜异位症的患者为EM组, 50名月经正常, 生育过正常小孩, 查无乳腺癌及妇科肿瘤, 在该院腹腔镜下或开腹做输卵管结扎或输卵管吻合术等, 排除EM、腺肌症的女性作为正常对照组。每位妇女取静脉血 2ml, 用酚 氯仿法提取和纯化DNA, 用设计雌激素受体 (ER) 基因类扩增ER基因 1号内含子及部分 2号外显子之间一段靶DNA引物, PCR变性、退火和延伸条件分别为 94℃30s、60℃40s、72℃90s,共 35个循环。PCR扩增产物用 1 5%agarose电泳检查扩增结果, 扩增产物大小为 1 3kb。PCR扩增后分别取 15UPvuⅡ与 10UXbaI内切酶于 37℃酶切至少 3h, 酶切产物经 1 5%琼脂糖溴乙锭电泳分离, 紫外灯下判断结果。结果: 标本经酶切后可产生 3种酶切格局: 使用PvuⅡ酶切可区分出 3种基因型: PP型 (终产物为一 1 3kb大小的条带), Pp型 (终产物为 1 .3kb、850bp、450bp大小的 3条带), pp型 (终产物为 850bp、450bp大小的 2条带), 使用XbaⅠ进行酶切可以区分出XX型 (1 .3kb), Xx型 (1. 3kb、910bp、390bp), xx型 (910bp、390bp) 3种基因型。ER基因     

Significance of serum calcium levels in colorectal cancer

INTRODUCTION: Based on the available studies, a link can be established between colorectal cancer (CRC) and low intake of calcium and vitamin D. According to the most recent results, the serum calcium level is mainly determined by genetic factors. One of the key elements of this is calcium-sensing receptor. AIM: The authors of this article examined patients in which CRC had recently been discovered. Particular attention was devoted to the relationship between the calcium metabolism of the patients, and the levels of AFP, CEA, CA 19-9 (which can be considered as prognostic factors). PATIENTS AND METHODS: The authors examined a total of 70 patients. Furthermore they examined the calcium-sensing receptor (CaSR) A986S polymorphism, as well as the different CaSR genotypes and the relationship with the data stated above. RESULTS: A lower level of ionized calcium was found in the CRC patients with normal 25 (OH) vitamin D levels. Beyond this, the ionized calcium level was inversely correlated with the level of CA 19-9 tumor markers. There were no differences in the CaSR genotype, between the CRC patients and the general population, beyond this, the genotypes did not correlate with other data being examined. CONCLUSION: With these results, the authors of this article have concluded that a lower level of calcium can be a pathogenic and prognostic factor in colorectal cancer.     

雌激素受体基因XbaI多态性与补钙对青春期少女骨骼发育作用的关系

目的研究雌激素受体(ER)基因XbaI多态性与补钙对青春期少女骨骼发育作用的关系,为制定钙膳食参考摄入量提供科学依据。方法从志愿者中选取88名13~15岁青春期少女,随机分为补钙组和对照组,并按XbaI多态性分成不同的亚组,进行为期1年的补钙实验。在补钙前后测定全身各部位骨密度、骨钙素(BGP)、骨碱性磷酸酶(BAP)、抗酒石酸酸性磷酸酶(TRACP)、雌二醇(E2)及维生素D水平。比较不同基因亚型间补钙后骨密度增长或骨生化指标变化的差异。结果共72人完成了整个研究。经过1年的干预,补钙组BGP的增长及前臂远端1/10处的骨密度增长均大于对照组;补钙组内的Xx亚型反映骨形成的指标BAP的增长大于xx亚型,且全身各测量部位的骨密度增长值均大于xx亚型,但无显著性差异;而对照组内各XbaI亚型上述各指标的增长值未见统计学差异。结论XbaI多态性中Xx较xx亚型具有更好的补钙反应性,在今后的补钙干预中应考虑该遗传因素的影响。     

维生素D受体基因(VDR)多态性与儿童铅中毒易感性的研究

目的:观察维生素D受体(VDR)基因rs731236、rs1544410及rs7975232在深圳市儿童血铅≥60μg/L样本组和低铅对照组之间的分布,揭示VDR基因多态性与儿童铅中毒易感的相关性。方法:在6个月～6岁儿童中筛选出75例样本组(血铅≥60μg/L均值(X=82.24μg/L)和80例对照组(血铅均值X=19.90μg/L)的样本,用PCR方法对VDR基因rs731236、rs1544410及rs7975232进行扩增,采用基质辅助激光解吸电离飞行时间质谱分析法(MALDI-TOF-MS)鉴定其基因型,比较各基因型在两组间的分布,寻找其与儿童血铅值的关系。结果:VDR基因rs731236中的基因型TT在样本组与对照组的分布频率差异有统计学意义(P<0.05),rs1544410中的GG在样本组与对照组的分布频率差异有统计学意义(P<0.01),rs7975232多态性在样本组与对照组的分布频率差异无统计学意义(P>0.05)。结论:VDR基因rs731236中的TT和rs1544410中的GG基因型可能增加儿童铅中毒的危险性;作为铅中毒的易感基因筛查值得进一步探讨。     

婴幼儿佝偻病VDR基因ApaI、BsmI位点多态性与连锁不平衡分析

目的 探讨婴幼儿佝偻病患者维生素D受体（VDR）基因ApaI、BsmI位点多态性分布特征及连锁不平衡关系及其与佝偻病的遗传易感因素.方法 应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对56例佝偻病患儿和76例健康对照儿进行VDR基因ApaI、BsmI位点多态性的检测,分析两组VDR基因型和等位基因频率及两位点间连锁不平衡的关系.结果 两组VDR基因ApaI、BsmI位点基因型频率分布比较差异均无统计学意义（P＞0.05）.VDR基因ApaI、BsmI 位点等位基因频率在两组人群中的分布差异均无统计学意义（P＞0.05）.ApaI与BsmI二位点连锁不平衡系（D＇=0.230,r2=0.01）.结论 VDR基因ApaI、BsmI位点的多态性与维生素D缺乏性佝偻病无明显关系,且两位点不存在连锁不平衡关系.     

Genetic and environmental factors affecting peak bone mass in premenopausal Japanese women

The purpose of this study was to examine the relationships between peak bone mass and genetic and environmental factors. We measured whole-body bone mineral density (BMD), lumbar spine BMD, and radius BMD with dual-energy X-ray absorptiometry (DXA) and analyzed eight genetic factors: vitamin D receptor (VDR)-3′, VDR-5′, estrogen receptor (ER), calcitonin receptor (CTR), parathyroid hormone (PTH), osteocalcin (OC), apolipoprotein E (ApoE), and fatty acid binding protein 2 (FABP2) allelic polymorphisms using polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLPs). We also surveyed menstrual history, food intake, and history of physical activity using questionnaires. After adjusting for age, body mass index (BMI), current smoking status, current Ca intake, alcohol intake, menoxenia, and physical activity, the mean BMD in subjects with the HH/Hh genotype was significantly higher than that of subjects with the hh genotype for whole-body BMD (mean±SD, 1.20±0.10 vs. 1.18±0.09 g/cm²; HH/Hh vs. hh, p=0.04) and at lumbar spine BMD (mean±SD, 1.18±0.14 vs. 1.14±0.12 g/cm²; HH/Hh vs. hh, p=0.02) in OC allelic polymorphism. Furthermore, the results of multiple regression analyses taking the 8 genetic factors plus the 7 environmental factors listed above into account showed that the strongest factor contributing to BMD was BMI at any site (whole-body and lumbar BMD p<0.0001, radius BMD p=0.0029). In addition, OC polymorphism (p=0.0099), physical activity (p=0.0245), menoxenia (p=0.0384), and PTH polymorphism (p=0.0425) were independent determinants for whole-body BMD, and OC polymorphism (p=0.0137) and physical activity (p=0.0421) were independent determinants for lumbar BMD and radius BMD, respectively.     

甘肃省与其他省份育龄妇女维生素D受体基因多态性分布差异性研究

目的 探讨甘肃省育龄期妇女维生素D受体（VDR）基因BsmⅠ及TaqⅠ位点基因多态性与国内其他7省的分布差异。方法 采用问卷调查获取全国7个省以及自治区23 530名育龄期妇女人口学信息,采集口腔上皮细胞,使用荧光定量PCR技术进行基因型检测,分析甘肃省育龄期妇女维生素D受体（VDR）基因BsmⅠ及TaqⅠ位点基因多态性,并比较甘肃省与其他地区该基因型分布以及等位基因分布的差异。结果 甘肃省育龄期妇女维生素D受体（VDR）基因BsmⅠ位点基因型分布为:AA（12,0.40%）,AG（329,11.00）,GG（2651,88.60%）,等位基因A、G的基因频率分别为5.89%、94.11%;TaqⅠ位点基因型分布为:CC（13,0.40%）,CT（334,11.20%）,TT（2645,88.40%）,等位基因C、T的基因频率分别为6.02%、93.98%。与甘肃省育龄期妇女VDR受体BsmⅠ位点基因型分布以及等位基因分布相比,宁夏、云南2省该基因型分布差异具有统计学意义（χ2 = 18.568、7.162,P＜0.05）,宁夏、广东、江苏、云南4省等位基因A、G的基因频率差异具有统计学意义（χ2 = 153.723、4.821、6.167、12.430,P＜0.05）;与甘肃省育龄期妇女VDR受体TaqⅠ位点基因型分布以及等位基因分布相比,各省基因型分布差异不具有统计学意义（P＞0.05）,云南省等位基因A、G的基因频率差异具有统计学意义（χ2 = 5.575,P＜0.05）结论 甘肃省育龄期妇女VDR基因BsmⅠ及TaqⅠ位点基因多态性与国内其他7省的分布具有明显差异,这可能与地域、生活习惯及民族差异有关。     

性早熟女童雌激素受体基因多态性与环境内分泌干扰物效应关系的研究

目的 研究性早熟女童雌激素受体α(estrogen receptor α, ERα)及雌激素受体β(estrogen receptor β, ERβ)基因多态性与环境内分泌干扰物效应的关系, 阐明机体对环境内分泌干扰物易感性差异的分子机制。方法 收集2011年5月-2012年9月在江西省儿童医院内分泌专科门诊就诊的初诊性早熟女童123例, 正常女童102例, 运用高效液相色谱法测定患儿和正常女童血清四种[4-壬基酚(4-NP)、1, 1-二氯-2, 2-双对氯苯乙烯(P, P-DDE)、邻苯二甲酸二丁酯(DBP)、邻苯二甲酸-2-乙基乙酯(DEHP)]环境内分泌干扰物(EEDs)的含量, 同时测定子宫、卵巢体积、骨密度及血清中雌二醇含量, 将血清中四种EEDs的含量与靶器官的临床指标做相关分析;进一步用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析技术, 对性早熟女童血清中分别能检出4-NP、DEHP、DBP 和P, P'-DDE 的患儿和正常对照分别不能检出以上4种内环境干扰物的女童ERα和ERβ基因多态性分析, 观察它们之间的效应关系。结果 正常儿童, 38.4%血清中检测到P, P'-DDE, 58%的血清中检测到4-NP, 37%的血清中检测到DEHP, 31%的血清中检测到DBP;性早熟患儿100%血清中均检测到P, P'-DDE, 89.7%的血清中检测到4-NP, 63.3%的血清中检测到DEHP, 64.8%的血清中检测到DBP, 且含量均高于正常儿童;性早熟女童血清中4-NP与子宫体积、卵巢容积、骨密度均呈正相关;P, P'-DDE与子宫体积也成正相关;ERα基因XbaⅠ基因型Xx以及ERβ基因RsaⅠ基因型RR在各组的危险度(OR)最高, Xx 与xx相比较, 分别对4-NP、DEHP、DBP和P, P'-DDE的易感性是2.52、7.01、6.21和2.63倍, RR与rr相比较, 分别对4-NP、DEHP、DBP 和P, P′-DDE的易感性是7.36、9.61、8.67和6.77倍。结论 性早熟女童所受4-NP、DEHP、DBP 和P, P'-DDE污染的程度比正常对照组女童严重, 而且不同种类的EEDs对靶器官的致病作用不同;暴露于EEDs的儿童并非都发生性早熟的原因之一可能是由ERα和ERβ基因多态性引起, 其中Xx和RR是EEDs的易感基因型。     

TP53 codon 72 polymorphism and P53 protein expression in colorectal cancer specimens in Isfahan

The TP53 tumor suppressor gene plays important roles in genomic stability. A common polymorphism at codon 72 of TP53 gene has been associated with increased risk for many human cancers. The p53 protein is expressed in colorectal cancer, but the reported prevalence of its expression varies widely. In the present study, the p53 protein expression in different genotypes of its codon 72 , was investigated. We undertook a case-control study on 250 controls and 250 paraffin block specimens of sporadic colorectal adenocarcinomas from the city of Isfahan. PCR amplification of TP53 codon 72 polymorphism: TP53 codon 72 genotypes were detected by PCR using specific primer pairs for amplifying the proline or the arginine Alleles. The PCR reaction was done separately for each of the two polymorphic variants. The amplified products were subjected to electrophoresis on 1% agarose gel in 1× TBE buffer and visualized on a transilluminator using ethidium bromide. Immunohistochemical Staining: We evaluated the expression patterns of p53 protein, as potential prognostic marker in colorectal cancer specimens by immunohistochemical staining. Statistical analyses: The χ2-test was used to assess the significance of any difference in the prevalence of TP53 codon 72 polymorphism between colorectal cancer patients and controls. The odds ratio and 95% CI (confidence intervals) was used as a measure of the strength of the association. Statistical significance level was set to P≤0.05. In control samples, the genotype distribution for TP53 polymorphism showed 30.4%, 45.2% and 24.4% for the arginine/arginine, arginine/proline and proline/proline genotypes, respectively. Allelic frequencies corresponded to 0.663 for the arginine allele and 0.338 for the proline allele. In the cancer group 38.8% of the cases were arginine/arginine, 40.4% were arginine/proline and 20.8% were proline/proline. The corresponding frequencies were 0.590 for the arginine allele and 0.410 for the proline allele. A significant difference between cases and controls was found for the arginine/arginine genotype compared with (grouped) arginine/proline and proline/proline genotypes (Odds Ratio = 1.451 (1.002-2.103), P=0.048). Overexpression of p53 was observed in 50.8 percent of cancer specimens which most of them were arginine/arginine genotype (P<0.001). TP53 polymorphism and arginine/arginine genotype may be correlated with overexpression of p53 and increased risk for colorectal cancer in city of Isfahan.     

Association between plasma 25-hydroxyvitamin D and colorectal adenoma according to dietary calcium intake and vitamin D receptor polymorphism

The anticarcinogenic potential of vitamin D might be mediated by not only calcium metabolism but also other mechanisms initiated by vitamin D receptor (VDR). The authors measured plasma 25-hydroxyvitamin D in healthy volunteer examinees who underwent total colonoscopy in Tokyo, Japan, 2004-2005, and evaluated its influence on colorectal adenoma, both alone and in interaction with VDR polymorphisms, which correspond to the FokI and TaqI restriction sites. The main analysis of plasma 25-hydroxyvitamin D included 737 cases and 703 controls. Compared with the lowest quintile of plasma 25-hydroxyvitamin D, only the highest was related to a significantly decreased odds ratio of colorectal adenoma (odds ratio = 0.64, 95% confidence interval: 0.45, 0.92). In contrast, all but the lowest quintile of dietary calcium intake presented similarly reduced odds ratios (odds ratio for the highest = 0.67, 95% confidence interval: 0.47, 0.95). Of note, the association between plasma 25-hydroxyvitamin D levels and colorectal adenoma was modified by the TaqI polymorphism of the VDR gene (P(interaction) = 0.03) but not by dietary calcium intake (P(interaction) = 0.93). These observations highlight the importance of vitamin D in colorectal tumorigenesis. Vitamin D might protect against colorectal neoplasia, mainly through mechanisms other than the indirect mechanism via calcium metabolism.     

儿童钙代谢相关激素与ER及VDR基因多态性关系

目的 探讨儿童钙代谢相关激素与雌激素受体(ER)及维生素D受体(VDR)基因多态性的关系.方法 选取河南省某地140名8～12岁中国汉族健康儿童作为研究对象,抽取空腹外周血,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测ERα基因PvuⅡ,XbaⅠ以及VDR基因FokⅠ多态性;放免法测定血清骨钙素(OC)和降钙素(CT)浓度.结果 携带ER PvuⅡ3种基因型儿童血清OC浓度分别为PP 5.82μg/L,Pp5.01 μg/L,pp 6.21 μg/L,差异有统计学意义(P＜0.05),携带纯合PP基因型儿童血清OC浓度高于另外2组儿童;血清Ca、CT浓度在ER PvuⅡ各基因型间差异无统计学意义(P＞0.05);携带VDR FokⅠ不同基因型儿童血清Ca浓度分别为ff2.71 mmol/L,Ff 2.39 mmol/L,FF2.48 mmol/L,携带ff基因型儿童血清Ca浓度高于其余2种基因型儿童,差异有统计学意义(P ＜0.05);血清CT和OC浓度在FokⅠ各基因型差异无统计学意义(P＞0.05);结论 ER PvuⅡ不同基因型可能影响血清OC浓度;血清钙浓度可能受VDR基因Fokl多态性的影响.     

Increased risk of colorectal cancer due to interactions between meat consumption and the CD36 gene A52C polymorphism among Japanese

A previous study showed expression of CD36, recently reported to play important roles in metabolism of oxidized low-density lipoprotein and long-chain fatty acids and to be positively correlated with colon cancer prognosis. To examine relationships between colorectal cancer and the CD36 gene A52C polymorphism according to meat consumption as a surrogate for saturated fatty acid intake, we conducted the present hospital-based, case-control study of 128 cases and 238 non-cancer controls. Consumption of meat and vegetables/fruit was divided into three (low, moderate, and high) and two (low and high) groups, respectively. Regarding the risk of colorectal cancer on cross-classifying subjects for the CD36 genotype and meat consumption, the odds ratio (OR) for the C/C genotype with moderate meat consumption relative to the A/A genotype with low meat consumption was 8.30 (95% confidence interval, CI=2.15-32.00). None of individuals with the C/C genotype was in the high meat consumption group. In the low vegetables/fruit consumption group, the OR for the C/C genotype relative to the A/A genotype was 3.03 (95% CI=1.12-7.90). Our findings suggest that interactions between moderate-high meat consumption and the CD36 gene A52C polymorphism may increase the risk of colorectal cancer.     

Vitamin D receptor gene polymorphism and bone metabolism during low-dose oral contraceptive use in young women

With the aim to determine whether bone metabolism in young women using low-dose oral contraception is influenced by vitamin D receptor (VDR) genotype, we designed the prospective clinical study of 41 healthy women aged 20-27 years. Twenty-one women of the study group were prescribed an oral contraceptive (30 microg ethynyl estradiol and 150 microg levonorgestrel) and 20 women of the control group a nonhormonal contraceptive or none. Biochemical markers of bone metabolism (bone-specific alkaline phosphatase, osteocalcin, deoxypyridinoline) and VDR genotype, using BsmI endonuclease, were determined. After 3 months in the study group, the BB genotype subgroup showed significantly decreased osteocalcin (p = 0.010), in the Bb genotype subgroup bone-specific alkaline phosphatase (p = 0.043) and osteocalcin (p = 0.006) decreased, and in the bb genotype subgroup no changes were observed. In the control group, there were no significant changes in markers of bone metabolism regarding VDR genotype. In conclusion, our study shows that in young women VDR gene polymorphism could influence bone metabolism during low-dose oral contraceptive use.     

海口地区0~6岁儿童25羟维生素D水平及维生素D受体基因多态性与骨密度关联性分析

目的 调查海口地区0~6岁儿童血清25羟维生素D[25-（OH）D]水平及维生素D受体（VDR）基因多态性与骨密度（BMD）的关联性。方法 选取2020年1—12月在海南省某专科医院医学中心进行健康体检的0~6岁健康儿童作为调查对象,检测其血清25-（OH）D水平、VDR基因多态性及BMD,比较不同性别、年龄、体质指数（BMI）、BMD儿童的血清25-（OH）D水平,比较BMD正常和异常儿童的VDR基因多态性,分析VDR基因多态性与BMD的关联性。结果 共纳入1 580名0~6岁健康儿童,男童838人,女童742人,平均年龄（2.49±1.20）岁。血清25-（OH）D水平为（34.66±5.87）ng/mL,维生素D缺乏、不足、充足儿童比例分别为4.49%、21.01%、74.49%。不同性别儿童血清25-（OH）D水平、维生素D营养状态分布差异无统计学意义（均P>0.05）;不同年龄、BMI、BMD儿童血清25-（OH）D水平、维生素D营养状态分布差异有统计学意义（P<0.05或P<0.01）。基因分型检测结果显示,0~6岁健康儿童VDR基因ApaⅠ位点存在多态性,基因型为AA、Aa、aa。BMD正常和异常儿童VDR基因ApaⅠ位点基因型、等位基因分布差异有统计学意义（均P<0.01）。多因素Logistic回归分析结果显示,VDR基因ApaⅠ位点基因型aa型（OR=3.729）、携带a等位基因（OR=2.656）儿童发生BMD异常的风险较高。结论 海口地区0~6岁儿童血清25-（OH）D水平与儿童年龄、BMI、BMD有关,且儿童VDR基因多态性与BMD异常的发生密切相关。     

维生素D受体基因与骨量的关系

近年来对维生素D受体(VDR)基因和骨量关系的研究颇有争议。有许多研究认为维生素D受体基因多态性与骨量有关联。但还有一部分研究未能证实VDR基因多态性与骨量的关联。本文就VDR基因与钙吸收、骨量、药物治疗的关系和VDR基因的协同作用以及与其它基因、环境因素的交互作用对骨量影响的研究进展进行了综述。     

The Pro12Ala polymorphism of the PPAR gamma 2 gene regulates weight from birth to adulthood

OBJECTIVE: The Pro12Ala polymorphism in exon B of peroxisome proliferator-activated receptor gamma 2 (PPAR gamma 2) gene has been related to obesity, insulin resistance, and risk of type 2 diabetes. In this study, the effect of the Pro12Ala polymorphism on long-term changes in weight and body composition was investigated. RESEARCH METHODS AND PROCEDURES: The Pro12Ala polymorphism was genotyped in 311 subjects who participated in our previous population-based study. In that study, weight at birth, 7 years, 20 years, and 41 years, and ponderal index at birth and BMI and waist circumference at 41 years were recorded. RESULTS: The Ala12 allele of the PPAR gamma 2 gene was associated with high ponderal index at birth (2.77 +/- 0.27 kg/m(3) in subjects with the Ala12Ala genotype, 2.79 +/- 0.29 kg/m(3) in subjects with the Pro12Ala genotype, and 2.63 +/- 0.25 kg/m(3) in subjects with the Pro12Pro genotype, p = 0.007, adjusted for gender) and weight at 7 years (p = 0.045) and tended to be associated with high birth weight (p = 0.094). Subjects with this allele gained less weight between 7 and 20 years (p = 0.043) and more weight between 20 and 41 years (p = 0.001) and ended up having higher waist circumference (p = 0.040) in adulthood than did subjects with the Pro12Pro genotype. DISCUSSION: We conclude that the Pro12Ala polymorphism of the PPAR gamma 2 gene regulates weight and body composition from utero to adulthood.     

雌激素受体1基因多态性与早产儿脑室内出血相关性的研究

目的 检测早产儿血中雌激素受体1(ESR1)基因多态性,并分析其与早产儿脑内出血症(IVH)的相关性,从而了解早产儿脑室内出血的发病基础和影响因素,做到更好地针对病因的预防、诊断、治疗,进一步改善预后。方法 选取2012年1月-2015年2月经头颅CT检查后诊断为脑室内出血的早产儿45例,正常对照组50例。采用PvuⅡ内切酶对病样及正常样本的ESR1基因的多态性进行检测,分析ESR1基因多态性在早产儿脑室内出血患儿中的基因型分布及相关性。结果 显示早产儿脑室内出血患儿的ESR1基因呈多态性分布,rs2234693位点基因型主要有CC基因型(213 bp)、TT基因型(179/34 bp) 和CT基因型(213/179/34 bp)三种,IVH实验组ESR1(rs2234693)位点的TC与TC基因型频率均高于对照组,两组之间差异有统计学意义(χ²=6.57,P<0.05)。IVH实验组ESR1(rs2234693)位点的T等位基因频率均高于对照组,两组之间差异有统计学意义(χ²=5.40,P<0.05)。结论 ESR1基因rs2234693位点T等位基因与早产儿脑室内出血存在某种相关性。