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. Kataoka N , Cai Q, Wen W, Shu XO, Jin F, Gao YT & Zheng W 2006 Population-based case–control study of VEGF gene polymorphisms and breast cancer risk among Chinese women. Cancer Epidemiology, Biomarkers and Prevention 15 1148 –1152
Shenzhen Key Laboratory of Metabolic Health, Center for Energy Metabolism and Reproduction, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen, China
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State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China
Institute of Biological and Environmental Sciences, University of Aberdeen, Aberdeen, UK
Institute of Health Sciences, China Medical University, Shenyang, Liaoning, China
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-dopamine D2 receptor heterodimer has been detected in the striatum and may be a viable therapeutic target for Parkinson's disease ( Fuxe et al. 2005 , Fuxe et al. 2007 , Navarro et al. 2016 ). Gene polymorphisms in the adenosine A2 receptor (ADORA2A
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Insulin receptor substrate 1 (IRS-1) gene polymorphisms have been identified in type 2 diabetic patients; however, it is unclear how such polymorphisms contribute to the development of diabetes. Here we introduced obesity in heterozygous IRS-1 knockout (IRS-1(+/-)) mice by gold-thioglucose (GTG) injection and studied the impact of reduced IRS-1 expression on obesity-linked insulin resistance. GTG injection resulted in approximately 30% weight gain in IRS-1(+/-) and wild type (WT) mice, compared with saline-injected controls. There was no difference in insulin sensitivity between lean IRS-1(+/-) and lean WT. Elevated fasting insulin levels but no change in fasting glucose were noted in obese IRS-1(+/-) and WT compared with the respective lean controls. Importantly, fasting insulin in obese IRS-1(+/-) was 1.5-fold higher (P<0.05) than in obese WT, and an insulin tolerance test showed a profound insulin resistance in obese IRS-1(+/-) compared with obese WT. The islets of obese IRS-1(+/-) were 1.4-fold larger than those of obese WT. The expression of insulin receptor and IRS-1 and IRS-2 was decreased in obese IRS-1(+/-), which could in part explain the profound insulin resistance in these mice. Our results suggest that IRS-1 is the suspected gene for type 2 diabetes and its polymorphisms could worsen insulin resistance in the presence of other additional factors, such as obesity.
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Germ line mutations of the multiple endocrine neoplasia type 1 (MEN1) tumour suppressor gene cause MEN1, a rare familial tumour syndrome associated with parathyroid hyperplasia, adenoma and hyperparathyroidism (HP). Here we investigated the role of the MEN1 gene in isolated sporadic and familial HP. Using RT-PCR single-strand conformational polymorphism screening, somatic (but not germ line) mutations of the MEN1 coding sequence were identified in 6 of 31 (19.3%) adenomas from patients with sporadic primary HP, but none in patients (n=16) with secondary HP due to chronic renal failure. MEN1 mutations were accompanied by a loss of heterozygosity (LOH) for the MEN1 locus on chromosome 11q13 in the adenomas as detected by microsatellite analysis. No DNA sequence divergence within the 5' region of the MEN1 gene, containing the putative MEN1 promoter, was detectable in HP adenomas. Clinical characteristics were not different in HP patients with or without MEN1 mutation. Heterozygous MEN1 gene polymorphisms were identified in 9.6% and 25% of patients with primary and secondary HP respectively. In a large kindred with familial isolated familial HP, MEN1 germ line mutation 249 del4 and LOH was associated with the HP phenotype and a predisposition to non-endocrine malignancies. We suggest that the bi-allelic somatic loss of MEN1 wild-type gene expression is involved in the pathogenesis of a clinically yet undefined subset of sporadic primary HP adenomas. MEN1 genotyping may further help define the familial hyperparathyroidism-MEN1 disease complex, but it seems dispensable in sporadic primary HP.
Department of Molecular Medicine, Division of Immunology, Atomic Bomb Disease Institute
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, clinically, the role of IL10 for the pathogenesis of Graves' disease can also be suspected by studies on IL10 gene polymorphisms ( Khalilzadeh et al . 2010 ) and on serum IL10 concentrations in patients with autoimmune thyroid diseases ( Takeoka et al
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Department of Pediatric Dentistry, School of Dentistry, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan
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Department of Pediatric Dentistry, School of Dentistry, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan
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involved in severe tumoral calcinosis with dural and carotid artery calcifications ( Ichikawa et al . 2007 ). KLOTHO gene polymorphisms (G395A in the promoter region and C1818T in exon 4) have also been associated with bone mineral density and multiple
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localization . Molecular and Cellular Biology 25 2957 – 2968 . doi:10.1128/MCB.25.8.2957-2968.2005 . Goulart AC Zee RY Pradhan A Rexrode KM 2009 Associations of the estrogen receptors 1 and 2 gene polymorphisms with the metabolic syndrome in
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D 1999 Lack of association between a human β-2 adrenoceptor gene polymorphism (gln27glu) and morbid obesity . International Journal of Obesity and Related Metabolic Disorders 23 1099 – 1100 . ( doi:10.1038/sj.ijo.0801063 ) Large V
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Gerontology and Geriatrics, Department of Chronic Diseases, Metabolism and Ageing (CHROMETA), KU Leuven, Leuven, Belgium
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candidate gene study in postmenopausal women showed an association between aromatase gene polymorphisms and time spent in physical activity ( Salmen et al. 2003 ). This association for the aromatase gene was replicated in a GWAS for leisure-time exercise
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and calcium metabolism in the body is mediated by vitamin D receptor (VDR). VDR gene polymorphism may be the associated reason for the endocrine dysfunction and insulin resistance in PCOS women ( Dasgupta et al . 2015 ). Fig. 8 shows a schematic
