共查询到20条相似文献,搜索用时 15 毫秒
1.
Camilla Helene Andreasen Mette Sloth Mogensen Knut Borch-Johnsen Annelli Sandbæk Torsten Lauritzen Katrine Almind Lars Hansen Torben Jørgensen Oluf Pedersen Torben Hansen 《BMC medical genetics》2008,9(1):118
Background
Several studies in multiple ethnicities have reported linkage to type 2 diabetes on chromosome 1q21-25. Both PKLR encoding the liver pyruvate kinase and NOS1AP encoding the nitric oxide synthase 1 (neuronal) adaptor protein (CAPON) are positioned within this chromosomal region and are thus positional candidates for the observed linkage peak. The C-allele of PKLR rs3020781 and the T-allele of NOS1AP rs7538490 are reported to strongly associate with type 2 diabetes in various European-descent populations comprising a total of 2,198 individuals with a combined odds ratio (OR) of 1.33 [1.16–1.54] and 1.53 [1.28–1.81], respectively. Our aim was to validate these findings by investigating the impact of the two variants on type 2 diabetes and related quantitative metabolic phenotypes in a large study sample of Danes. Further, we intended to expand the analyses by examining the effect of the variants in relation to overweight and obesity. 相似文献2.
Konsta Duesing Guillaume Charpentier Michel Marre Jean Tichet Serge Hercberg Beverley Balkau Philippe Froguel Fernando Gibson 《BMC medical genetics》2008,9(1):14
Background
PBX1 is a biological candidate gene for type 2 diabetes at the 1q21-q24 susceptibility locus. The aim of this study was to evaluate the association of common PBX1 variants with type 2 diabetes in French Caucasian subjects. 相似文献3.
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Claire Cheyssac Cécile Lecoeur Aurélie Dechaume Amina Bibi Guillaume Charpentier Beverley Balkau Michel Marre Philippe Froguel Fernando Gibson Martine Vaxillaire 《BMC medical genetics》2006,7(1):44
Background
The protein tyrosine phosphatase-1B, a negative regulator for insulin and leptin signalling, potentially modulates glucose and energy homeostasis. PTP1B is encoded by the PTPN1 gene located on chromosome 20q13 showing linkage with type 2 diabetes (T2D) in several populations. PTPN1 gene variants have been inconsistently associated with T2D, and the aim of our study was to investigate the effect of PTPN1 genetic variations on the risk of T2D, obesity and on the variability of metabolic phenotypes in the French population. 相似文献5.
Cheng Hu Rong Zhang Congrong Wang Xiaojing Ma Jie Wang Yuqian Bao Kunsan Xiang Weiping Jia 《BMC medical genetics》2011,12(1):3
Background
Genome-wide linkage studies in multiple ethnic populations found chromosome 1q21-q25 was the strongest and most replicable linkage signal in the human chromosome. Studies in Pima Indian, Caucasians and African Americans identified several SNPs in DUSP12 and ATF6, located in chromosome 1q21-q23, were associated with type 2 diabetes. 相似文献6.
Background
GLUT10 (gene symbol SLC2A10) is a facilitative glucose transporter within the type 2 diabetes (T2DM)-linked region on chromosome 20q12-13.1. Therefore, we evaluated GLUT10 as a positional candidate gene for T2DM in Caucasian Americans. 相似文献7.
Maya?Ghoussaini David?Meyre Stéphane?Lobbens Guillaume?Charpentier Karine?Clément Marie-Aline?Charles Ma?té?Tauber Jacques?Weill Philippe?Froguel
Background
The Pro12Ala Single Nucleotide Polymorphism (SNP) of the Peroxisome Proliferator-Activated Receptor gamma 2 (PPAR-gamma 2) has been associated with insulin resistance and type 2 diabetes (T2D) and also inconsistently with obesity. The aim of this study was to evaluate the impact of this SNP with regards to T2D and childhood and adult obesity in the French Caucasian population. 相似文献8.
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Ravinesh A Kumar David B Everman Chad T Morgan Anne Slavotinek Charles E Schwartz Elizabeth M Simpson 《BMC medical genetics》2007,8(1):48
Background
A disruption of sorting nexin 3 (SNX3) on 6q21 was previously reported in a patient with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and t(6;13)(q21;q12) but no SNX3 mutations were identified in another sporadic case of MMEP, suggesting involvement of another gene. In this work, SNX3 was sequenced in three patients not previously studied for this gene. In addition, we test the hypothesis that mutations in the neighbouring gene NR2E1 may underlie MMEP and related phenotypes. 相似文献10.
Andreas Holstein Michael Hahn Antje Körner Michael Stumvoll Peter Kovacs 《BMC medical genetics》2011,12(1):30
Background
Variants in the TCF7L2 have been shown to be associated with an increased risk for type 2 diabetes (T2D). Since the association with diabetes could be explained by effects on insulin secretion, we investigated whether patients with diabetes risk alleles at rs7903146 might have an altered hypoglycaemic response to sulfonylureas (SUs). 相似文献11.
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Hongyun Fang Yanping Li Songming Du Xiaoqi Hu Qian Zhang Ailing Liu Guansheng Ma 《BMC medical genetics》2010,11(1):136
Background
Fat-mass and obesity-associated (FTO) gene is a gene located in chromosome region 16q12.2. Genetic variants in FTO are associated with the obesity phenotype in European and Hispanic populations. However, this association still remains controversial in Asian population. We aimed to test the association of FTO genetic variants with obesity and obesity-related metabolic traits among children living in Beijing, China. 相似文献13.
Melanie Kolz Jens Baumert Martina Müller Natalie Khuseyinova Norman Klopp Barbara Thorand Christine Meisinger Christian Herder Wolfgang Koenig Thomas Illig 《BMC medical genetics》2008,9(1):9
Background
Toll-like receptor 4 (TLR4), the signaling receptor for lipopolysaccharides, is an important member of the innate immunity system. Since several studies have suggested that type 2 diabetes might be associated with changes in the innate immune response, we sought to investigate the association between genetic variants in the TLR4 gene and incident type 2 diabetes. 相似文献14.
Konsta Duesing Guillaume Charpentier Michel Marre Jean Tichet Serge Hercberg Beverley Balkau Philippe Froguel Fernando Gibson 《BMC medical genetics》2009,10(1):13
Background
APOA2 is a positional and biological candidate gene for type 2 diabetes at the chromosome 1q21-q24 susceptibility locus. The aim of this study was to examine if HapMap phase II tag SNPs in APOA2 are associated with type 2 diabetes and quantitative traits in French Caucasian subjects. 相似文献15.
Background
Genetic polymorphisms of the TCF7L2 gene are strongly associated with large increments in type 2 diabetes risk in different populations worldwide. In this study, we aimed to confirm the effect of the TCF7L2 polymorphism rs7903146 on diabetes risk in a Brazilian population and to assess the use of this genetic marker in improving diabetes risk prediction in the general population. 相似文献16.
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Stéphane Cauchi David Meyre Hélène Choquet Samia Deghmoun Emmanuelle Durand Stefan Gaget Cécile Lecoeur Philippe Froguel Claire Levy-Marchal 《BMC medical genetics》2007,8(1):37
Background
In adults, the TCF7L2 rs7903146 T allele, commonly associated with type 2 diabetes (T2D), has been also associated with a lower body mass index (BMI) in T2D individuals and with a smaller waist circumference in subjects with impaired glucose tolerance. 相似文献18.
Surasawadee Ausavarat Siraprapa Tongkobpetch Verayuth Praphanphoj Charan Mahatumarat Nond Rojvachiranonda Thiti Snabboon Thomas C Markello William A Gahl Kanya Suphapeetiporn Vorasuk Shotelersuk 《BMC medical genetics》2011,12(1):46
Background
The presence of mammary glands distinguishes mammals from other organisms. Despite significant advances in defining the signaling pathways responsible for mammary gland development in mice, our understanding of human mammary gland development remains rudimentary. Here, we identified a woman with bilateral amastia, ectodermal dysplasia and unilateral renal agenesis. She was found to have a chromosomal balanced translocation, 46,XX,t(1;20)(p34.1;q13.13). In addition to characterization of her clinical and cytogenetic features, we successfully identified the interrupted gene and studied its consequences. 相似文献19.
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