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Identification of a Regulatory Single Nucleotide Polymorphism in the Adiponectin (APM1) Gene Associated with Type 2 Diabetes in Han Nationality

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Biomedical and Environmental Sciences 2008年第6期21卷 454-459页

作者： MIN YANG CHANG-CHUN QIU WEI CHEN LING-LING XU MIAO YU hong-ding xiang Department of Endocrinolog） Peking Union Medical College Hospital Chinese Academy of Medical Sciences Beijing 100730 China National Laboratory of Medical Molecular Biology School of Basic Medicine Peking Union Medical College Institute of Basic Medical Sciences Chinese Academy of Medical Sciences Beijing 100005 China

Objective To identify the genetic defects of the the adiponectin （APM1） gene that contribute to the development of type 2 diabetes （T2DM） and determine the functional single nucleotide polymorphisms （SNPs） in the APMI gene associated with T2DM in Han nationality. Methods The APMI gene 5＇-UTR was screened by direct sequencing to identify common polymorphisms. Identified SNPs were genotyped in 585 nondiabetic controls, 278 subjects with impaired glucose intolerance （IGT） and 212 patients with T2DM. The functions of SNPs in the regulatory region were assessed by reporter gene assay. Possible association between SNPs and plasma APMI levels or metabolic parameters was statistically asses,sed. Results Three SNPs were identified in the APMI gene 5＇-UTR. A case-control study revealed that SNP -11377 G/C had significant differences in allele frequencies between T2DM patients and nondiabetic controls （G 0.314/C 0.686 vs. G 0.265/C 0.735, P=0.03）. Haplotype analysis of three SNPs in the APM1 gene showed that no significant association of haplotypes with T2DM. IGT was detected in the present study. Reporter gene assay showed that SNP did not influence the transcription efficiency in the 3T3-LI cell line. Conclusion SNP - 11377 G/C in the proximal promoter region of the APM 1 gene contributes to the development of T2DM in Han nationality but may not be a functional SNP in the APM1 gene.

关键词： Diabetes Adiponectin Single nucleotide polymorphism Reporter gene Promoter

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Rectal prolapse in a 30-year-old bladder stone male patient:A case report

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World Journal of Clinical Cases 2023年第14期11卷 3317-3322页

作者： hong-xiang ding Jia-Guo Huang Chao Feng Sheng-Cheng Tai Department of Urology Affiliated Xiaoshan HospitalHangzhou Normal UniversityHangzhou 310000Zhejiang ProvinceChina School of Medicine Hangzhou Normal UniversityHangzhou 310000Zhejiang ProvinceChina

BACKGROUND Rectal prolapse occurs most commonly in children and middle-aged and elderly women and is relatively rare in young men and is occasionally caused by bladder *** rectal prolapse,bilateral hydronephrosis,and renal insufficiency caused by bladder stones are rare in a 30-year-old *** SUMMARY We report the case of a 30-year-old male patient with cerebral palsy who presented with a large bladder stone that resulted in severe rectal prolapse,bilateral hydronephrosis,and renal *** a definitive diagnosis,the bladder stone was successfully removed,and his kidney function returned to *** assessed the patient’s nutritional status and stone composition and concluded that the main cause was *** Rectal prolapse is a rare clinical manifestation of bladder stones,particularly in young *** palsy patients are a vulnerable group in society because of their intellectual disabilities and communicative ***,besides taking care of their daily diet,abnormal signs in their bodies should receive the doctors’attention in a timely manner.

关键词： Bladder stone Rectal prolapse Cerebral palsy Malnutrition Case report

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Association of Angiotensin Converting Enzyme Gene I/D Polymorphism With Type 2 Diabetes Mellitus

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Biomedical and Environmental Sciences 2006年第4期19卷 323-327页

作者： MIN YANG CHANG-CHUN QIU QUN XU hong-ding xiang Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Beijing 100730 China National Laboratory of Medical Molecular Biology School of Basic Medicine Peking Union Medical College Institute of Basic Medical Sciences Chinese Academy of Medical Sciences Beijing 100005 China

Objective To investigate the association of angiotensin converting enzyme （ACE） gene insertion/deletion （I/D） polymorphism with type 2 diabetes mellitus （T2DM）. Methods Two hundred and nine patients with T2DM diagnosed based on the criteria for diabetes mellitus in 1999 by WHO and 221 controls were recruited from general population of Dongcheng District in Beijing. All subjects were genotyped for the I/D polymorphism of ACE gene by PCR-fragment length polymorphism （FLP） assay. Blood pressure, levels of plasma glucose, lipids and serum insulin were determined. Body mass index （BMI）, waist-trip ratio （WHR） and homeostasis model assessment-insulin resistance index （HOMA-IR） were calculated. Results The genotype frequencies for ACE genes DD, ID, and II were 19.1%, 42.1%, and 38.8% in patients, respectively, and 9.6%, 49.4%, and 41.0% in controls, respectively. The ACE DD genotype frequency was significantly higher in patients than in controls （χ^2=7.61, P=0.022）. Multivariate logistic regression analysis showed that the ACE DD genotype was a risk factor for T2DM, with the OR of 2.35 （95% CI 1.17-4.71） adjusted for age, sex, BMI, WHR, blood pressure, and serum cholesterol levels. Conclusion The ACE DD genotype is associated with the increased susceptibility to type 2 diabetes mellitus.

关键词： Angiotensin-converting enzyme gene Polymorphism Diabetes meUitus Risk factor Genetics

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Association of Gghrelin Polymorphisms with Metabolic Syndrome in Han Nationality Chinese

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Biomedical and Environmental Sciences 2008年第3期21卷 188-192页

作者： LING-LING XU hong-ding xiang CHANG-CHUN QIU QUN XU Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Beijing 100730 China National Laboratory of Medical Molecular Biology School of Basic Medicine Peking Union Medical College Institute of Basic Medical Science Chinese Academy of Medical Science Beijing 100005 China

Objective To investigate the association of ghrelin gene polymorphisms with metabolic syndrome in Han Nationality Chinese. Methods A total of 240 patients with metabolic syndrome and 427 adults aged above forty years were recruited. Genotypes were determined by polymerase chain reaction and restriction fragment length polymorphism analysis. Results The allelic frequency of the Leu72Met polymorphism was 17.3% in the patient group and 11.9% in the control group （x^2=7.36, P=0.007）. Metabolic syndrome was more prevalent among carriers of the Met72 variant （43.8 vs 33.1%, age- and sex-adjusted odds ratio=1.57, P=0.01）. No Arg51Gln variants were found in our study subjects. Conclusion Rather than being associated with its individual components, Leu72Met polymorphism is associated with metabolic syndrome in the Han Nationality Chinese. Arg51Gln polymorphism is rare in the Han Nationality Chinese.

关键词： Ghrelin Polymorphism Metabolic syndrome the Han Nationality

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营养干预对运动性贫血的干预效果

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现代预防医学 2011年第22期38卷 4679-4680+4690页

作者：丁鸿祥甘肃西北民族大学体育学院

[目的]通过对田径运动员采用自行配置的营养补充剂进行营养干预,观察补充后对运动性贫血的治疗效果,为预防和防止运动性贫血提供依据。[方法]以氧供能为主的体育运动,要求运动员有较高的有氧能力。本研究纳入正常入学体育系大学生中经... 详细信息

[目的]通过对田径运动员采用自行配置的营养补充剂进行营养干预,观察补充后对运动性贫血的治疗效果,为预防和防止运动性贫血提供依据。[方法]以氧供能为主的体育运动,要求运动员有较高的有氧能力。本研究纳入正常入学体育系大学生中经常运动的学生中为研究对象,完全随机分配为试验组和对照组,试验组为运动性贫血学生,对照组为正常学生。在学生体育锻炼期间给予试验组铁复合制剂治疗,并服用12周,对照组服用安慰剂治疗。观察实验前和试验后相关红细胞数,血红蛋白浓度和红细胞压积,血清铁、血清铁蛋白以及铁转蛋白以及营养干预对相关指标的影响。[结果]女性运动性贫血明显多于男性运动性贫血,实验前贫血组红细胞相关指标、血清铁、血清铁蛋白浓度均低于正常对照组,服用营养干预后干预组的红细胞相关指标,血清铁,血清铁蛋白浓度与实验前相比显著性提高并达到正常值,而血清转铁蛋白显著性的降低。[结论]营养干预能有效的改善体内铁紊乱,提高血红蛋白水平和机体铁的贮备量,最终改善运动性贫血。

关键词：田径运动员营养干预运动性贫血

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