共查询到20条相似文献,搜索用时 31 毫秒
1.
Josefin A Jacobsson Ulf Risérus Tomas Axelsson Lars Lannfelt Helgi B Schi?th Robert Fredriksson 《BMC medical genetics》2009,10(1):131-8
Background
Common FTO (fat mass and obesity associated) gene variants have recently been strongly associated with body mass index and obesity in several large studies. Here we set out to examine the association of the FTO variant rs9939609 with BMI in a 32 year follow up study of men born 1920-1924. Moreover, we analyzed the effect of physical activity on the different genotypes. 相似文献2.
Ranjan Deka Ling Xu Prodipto Pal Palanitina T Toelupe Tuiasina S Laumoli Huifeng Xi Ge Zhang Daniel E Weeks Stephen T McGarvey 《BMC medical genetics》2009,10(1):143
Background
A genome wide association study found significant association of a sequence variant, rs7566605, in the insulin-induced gene 2 (INSIG2) with obesity. However, the association remained inconclusive in follow-up studies. We tested for association of four tagging SNPs (tagSNPs) including this variant with body mass index (BMI) and abdominal circumference (ABDCIR) in the Samoans of the Western Pacific, a population with high levels of obesity. 相似文献3.
Rebecca J Webster Nicole M Warrington John P Beilby Timothy M Frayling Lyle J Palmer 《BMC medical genetics》2010,11(1):140
Background
Variation in the effects of genetic variants on physiological traits over time or with age may alter the trajectories of these traits. However, few studies have investigated this possibility for variants associated with type 2 diabetes or obesity, and these show little consensus. We aimed to characterise the possible longitudinal associations of common diabetes-susceptibility variants in the KCNJ11, PPARG, TCF7L2, IGF2BP2, CDKAL1, SLC30A8 and HHEX gene loci, with fasting glucose level; and of an obesity-associated variant in the FTO gene, with body mass index (BMI). 相似文献4.
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5.
Chen Liu Ying Wu Huaixing Li Qibin Qi Claudia Langenberg Ruth JF Loos Xu Lin 《BMC medical genetics》2010,11(1):59
Background
Genome-wide association studies (GWAS) in White Europeans have shown that genetic variation rs10830963 in melatonin receptor 1B gene (MTNR1B) is associated with fasting glucose and type 2 diabetes, which has also been replicated in several Asian populations. As a variant in the gene involved in the regulation of circadian rhythms, the effect of the variant on sleep status remains unknown. This study aimed to investigate the effects of MTNR1B rs10830963 on fasting glucose, type 2 diabetes and sleep status in Chinese Hans. 相似文献6.
Virginia Kaklamani Nengjun Yi Maureen Sadim Kalliopi Siziopikou Kui Zhang Yanfei Xu Sarah Tofilon Surbhi Agarwal Boris Pasche Christos Mantzoros 《BMC medical genetics》2011,12(1):52
Background
Obesity has been shown to increase breast cancer risk. FTO is a novel gene which has been identified through genome wide association studies (GWAS) to be related to obesity. Our objective was to evaluate tissue expression of FTO in breast and the role of FTO SNPs in predicting breast cancer risk. 相似文献7.
Timo D Müller Anke Hinney André Scherag Thuy T Nguyen Felix Schreiner Helmut Schäfer Johannes Hebebrand Christian L Roth Thomas Reinehr 《BMC medical genetics》2008,9(1):85
Background
We have previously identified strong association of six single nucleotide polymorphisms (SNPs) in FTO (fat mass and obesity associated gene) to early onset extreme obesity within the first genome wide association study (GWA) for this phenotype. The aim of this study was to investigate whether the obesity risk allele of one of these SNPs (rs9939609) is associated with weight loss in a lifestyle intervention program. Additionally, we tested for association of rs9939609 alleles with fasting blood parameters indicative of glucose and lipid metabolism. 相似文献8.
Gaifen Liu Haidong Zhu Vasiliki Lagou Bernard Gutin Inger S Stallmann-Jorgensen Frank A Treiber Yanbin Dong Harold Snieder 《BMC medical genetics》2010,11(1):57
Background
Genome-wide association studies found common variants in the fat mass and obesity-associated (FTO) gene associated with adiposity in Caucasians and Asians but the association was not confirmed in African populations. Association of FTO variants with insulin resistance and energy intake showed inconsistent results in previous studies. This study aimed to assess the influence of FTO variant rs9939609 on adiposity, insulin resistance, energy intake and physical activity in European - (EA) and African-American (AA) youth. 相似文献9.
Stacy AS Killen Jennifer Kunic Lily Wang Adele Lewis Bruce P Levy Michael J Ackerman Alfred L GeorgeJr 《BMC medical genetics》2010,11(1):74
Background
Heterozygous and homozygous carriers of SCN5A -p.Ser1103Tyr, a common genetic variant with functional effects among African-Americans, have an increased risk of sudden death. We hypothesized that some heterozygous carriers may have unequal expression of wild-type and variant alleles and secondarily that predominance of the variant gene copy could further increase risk for sudden death in this population. 相似文献10.
Maria Nilsson Ingrid Dahlman Hong Jiao Jan-Åke Gustafsson Peter Arner Karin Dahlman-Wright 《BMC medical genetics》2007,8(1):73
Background
The estrogen receptors α and β (ESR1, ESR2) have been implicated in adiposity, lipid metabolism and feeding behaviour. In this report we analyse ESR1 and ESR2 gene single nucleotide polymorphisms (SNPs) for association with obesity. We also relate adipose tissue ESR1 mRNA levels and ESR1 SNPs to adipocyte lipolysis and lipogenesis phenotypes. 相似文献11.
Bangshun He Yuqin Pan Ying Zhang Qian Bao Liping Chen Zhenlin Nie Ling Gu Yeqiong Xu Shukui Wang 《BMC medical genetics》2011,12(1):1-7
Background
The thrifty gene hypothesis posits that, in populations that experienced periods of feast and famine, natural selection favoured individuals carrying thrifty alleles that promote the storage of fat and energy. Polynesians likely experienced long periods of cold stress and starvation during their settlement of the Pacific and today have high rates of obesity and type 2 diabetes (T2DM), possibly due to past positive selection for thrifty alleles. Alternatively, T2DM risk alleles may simply have drifted to high frequency in Polynesians. To identify thrifty alleles in Polynesians, we previously examined evidence of positive selection on T2DM-associated SNPs and identified a T2DM risk allele at unusually high frequency in Polynesians. We suggested that the risk allele of the Gly482Ser variant in the PPARGC1A gene was driven to high frequency in Polynesians by positive selection and therefore possibly represented a thrifty allele in the Pacific.Methods
Here we examine whether PPARGC1A is a thrifty gene in Pacific populations by testing for an association between Gly482Ser genotypes and BMI in two Pacific populations (Maori and Tongans) and by evaluating the frequency of the risk allele of the Gly482Ser variant in a sample of worldwide populations.Results
We find that the Gly482Ser variant is associated with BMI in Tongans but not in Maori. In a sample of 58 populations worldwide, we also show that the 482Ser risk allele reaches its highest frequency in the Pacific.Conclusion
The association between Gly482Ser genotypes and BMI in Tongans together with the worldwide frequency distribution of the Gly482Ser risk allele suggests that PPARGC1A remains a candidate thrifty gene in Pacific populations. 相似文献12.
Ondrej Hradsky Petra Dusatkova Martin Lenicek Jiri Bronsky Jiri Nevoral Libor Vitek Milan Lukas Ivana Zeniskova Ondrej Cinek 《BMC medical genetics》2010,11(1):91
Background
The CTLA4 (cytotoxic T-lymphocyte antigen 4) gene is associated with several immunopathologic diseases and because of its important immuno-regulatory role it may be considered also a plausible candidate for a genetic association with inflammatory bowel diseases. Previously published studies found no association of CTLA4 with Crohn's disease itself, but some indicated an association with its subphenotypes. The aim of this study was to assess the association in the Czech population, using a set of markers shown to associate with other diseases. 相似文献13.
Vesna Boraska Nigel W Rayner Christopher J Groves Timothy M Frayling Mahamadou Diakite Kirk A Rockett Dominic P Kwiatkowski Aaron G Day-Williams Mark I McCarthy Eleftheria Zeggini 《BMC medical genetics》2010,11(1):69
Background
The TNF/LTA locus has been a long-standing T2D candidate gene. Several studies have examined association of TNF/LTA SNPs with T2D but the majority have been small-scale and produced no convincing evidence of association. The purpose of this study is to examine T2D association of tag SNPs in the TNF/LTA region capturing the majority of common variation in a large-scale sample set of UK/Irish origin. 相似文献14.
Background
Epidemiological studies have provided enough evidence that genetic factors have an important role in determining susceptibility to IBD. The most significant finding in the IBD research has been identification of mutations in the gene that encodes Nod2 (nucleotide-binding oligomerization domain 2) protein in a subgroup of patients with Crohn's disease. However, a very similar gene encoding Nod1 protein still has not been well documented for its association with Ulcerative colitis patients. Detection of polymorphism in NOD1 gene using SNP analysis has been attempted in the present study. We evaluated frequency and significance of mutations present in the nucleotide-binding domain (NBD) of NOD1 gene in context to Indian population. 相似文献15.
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16.
Moreira RP Jorge AA Gomes LG Kaupert LC Massud Filho J Mendonca BB Bachega TA 《Clinics (S?o Paulo, Brazil)》2011,66(8):1361-1366
INTRODUCTION:
21-hydroxylase deficiency is an autosomal recessive disorder that causes glucocorticoid deficiency and increased androgen production. Treatment is based on glucocorticoid replacement; however, interindividual variability in the glucocorticoid dose required to achieve adequate hormonal control has been observed.OBJECTIVE:
The present study aimed to evaluate the association between polymorphic variants involved in glucocorticoid action and/or metabolism and the mean daily glucocorticoid dose in 21-hydroxylase deficiency patients.METHODS:
We evaluated 53 patients with classical forms of 21-hydroxylase deficiency who were receiving cortisone acetate. All patients were between four and six years of age and had normal androgen levels.RESULTS:
The P450 oxidoreductase A503V, HSD11B1 rs12086634, and CYP3A7*1C variants were found in 19%, 11.3% and 3.8% of the patients, respectively. The mean±SD glucocorticoid dose in patients with the CYP3A7*1C and wild-type alleles was 13.9±0.8 and 19.5±3.2 mg/m2/d, respectively. We did not identify an association between the P450 oxidoreductase or HSD11B1 allelic variants and the mean glucocorticoid dose.CONCLUSION:
Patients carrying the CYP3A7*1C variant required a significantly lower mean glucocorticoid dose. Indeed, the CYP3A7*1C allele accounted for 20% of the variability in the cortisone acetate dose. The analysis of genes involved in glucocorticoid metabolism may be useful in the optimization of treatment of 21-hydroxylase deficiency. 相似文献17.
Latonya F Been Sarju Ralhan Gurpreet S Wander Narinder K Mehra JaiRup Singh John J Mulvihill Christopher E Aston Dharambir K Sanghera 《BMC medical genetics》2011,12(1):18
Background
Polymorphisms in intron 15 of potassium voltage-gated channel, KQT-like subfamily member 1 (KCNQ1) gene have been associated with type II diabetes (T2D) in Japanese genome-wide association studies (GWAS). More recently a meta-analysis of European GWAS has detected a new independent signal associated with T2D in intron 11 of the KCNQ1 gene. The purpose of this investigation is to examine the role of these variants with T2D in populations of Asian Indian descent from India and the US. 相似文献18.
Miranda JJ Geelhoed Eric AP Steegers Jan W Koper Elisabeth FC van Rossum Henriette A Moll Hein Raat Henning Tiemeier Albert Hofman Vincent WV Jaddoe 《BMC medical genetics》2010,11(1):39
Background
Glucocorticoids have an important role in early growth and development. Glucocorticoid receptor gene polymorphisms have been identified that contribute to the variability in glucocorticoid sensitivity. We examined whether these glucocorticoid receptor gene polymorphisms are associated with growth in fetal and early postnatal life. 相似文献19.
Jeetesh V Patel David E Cummings John P Girod Alwin V Mascarenhas Elizabeth A Hughes Manjula Gupta Gregory YH Lip Sethu Reddy Daniel J Brotman 《Journal of negative results in biomedicine》2006,5(1):14-5
Background
The mechanisms by which glucocorticoid therapy promotes obesity and insulin resistance are incompletely characterized. Modulations of the metabolically active hormones, tumour necrosis factor alpha (TNF alpha), ghrelin, leptin and adiponectin are all implicated in the development of these cardiovascular risk factors. Little is known about the effects of short-term glucocorticoid treatment on levels of these hormones. 相似文献20.
Rubina Tabassum Anubha Mahajan Ganesh Chauhan Om Prakash Dwivedi Saurabh Ghosh Nikhil Tandon Dwaipayan Bharadwaj 《BMC medical genetics》2010,11(1):35