Genetic variation in the visfatin (PBEF1/NAMPT) gene and type 2 diabetes in the Greek population

Paschou, Peristera; Kukuvitis, Asterios; Yavropoulou, Maria P; Dritsoula, Athina; Giapoutzidis, Vasilios; Anastasiou, Olympia E.; Kazakos, Kyriakos; Yovos, John G.

doi:10.1016/j.cyto.2010.04.006

Cited by 15 publications

(11 citation statements)

References 22 publications

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“…6,7 However, in the present study no mutation of the NAMPT -948G ⁄ T polymorphism was detected in Chinese Han T2DM patients and healthy controls. These apparent discrepancies imply that there is probably an ethnic difference in the distributive frequency of the NAMPT -948G ⁄ T polymorphism and that the NAMPT -948G ⁄ T polymorphism is possibly unrelated to Chinese T2DM.…”

Section: Discussioncontrasting

confidence: 78%

“…A study in a Caucasian population showed that NAMPT -948G ⁄ T may play a role in determining susceptibility to T2DM by modulating chronic and low-grade inflammatory responses. 6 However, Paschou et al 7 recently reported that there was no association between variations in the NAMPT gene and susceptibility to T2DM in a Greek population. In a French-Canadian population study, the NAMPT -3186 C ⁄ T (rs11977021) polymorphism was reported to be associated with total cholesterol and low-density lipoprotein cholesterol levels.…”

Section: Introductionmentioning

confidence: 97%

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NAMPT -3186C/T polymorphism affects repaglinide response in Chinese patients with Type 2 diabetes mellitus

Sheng

Dai

et al. 2011

Clinical and Experimental Pharmacology and Physiology

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1. In the present study, we investigated the associations of nicotinamide phosphoribosyltransferase (NAMPT)-3186 C/T and -948G/T polymorphisms with the risk of Type 2 diabetes mellitus (T2DM) and their impact on the efficacy of repaglinide in Chinese Han T2DM patients. 2. In all, 170 patients with T2DM and 129 healthy controls were genotyped for NAMPT-948G>T and -3186C>T polymorphisms. Thirty-five patients with different NAMPT -3186 C/T genotypes and the same organic anion-transporting polypeptide 1B1 (OATP1B1521) T/C genotype were randomly selected to undergo 8 weeks preprandial repaglinide treatment (1 mg, three times daily). Serum fasting plasma glucose (FPG), post-prandial plasma glucose (PPG), glycated haemoglobin (HbAlc), fasting serum insulin (FINS), post-prandial serum insulin (PINS), triglyceride (TG), total cholesterol (CHO), homeostasis model assessment of insulin resistance (HOMA-IR), low-density lipoprotein-cholesterol (LDL-C) and high-density lipoprotein-cholesterol (HDL-C) were determined before and after repaglinide treatment. 3. After repaglinide treatment for 8 consecutive weeks, there were significantly decreases in PFG, PPG, HbAlc, CHO and LDL-C, and increases in FINS, HDL-C and the HDL-C : LDL-C ratio, in T2DM patients. The elevated PINS value in patients with CT genotypes was significantly lower than that in patients with the CC and TT genotypes (P < 0.05) and there were significant differences in CHO between patients with the CT genotype and the CC or TT genotype (P < 0.05). 4. The data suggest that the NAMPT -3186C>T polymorphism is significantly associated with plasma levels of PINS and CHO in Chinese T2DM patients with repaglinide monotherapy.

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Section: Discussioncontrasting

confidence: 78%

Section: Introductionmentioning

confidence: 97%

NAMPT -3186C/T polymorphism affects repaglinide response in Chinese patients with Type 2 diabetes mellitus

Sheng

Dai

et al. 2011

Clinical and Experimental Pharmacology and Physiology

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“…The PBEF1 gene encodes a protein that catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, one step in the biosynthesis of nicotinamide adenine dinucleotide. PBEF1 has been associated with several diseases such as obesity and type 2 diabetes [Bottcher et al, 2006;Pilz et al, 2007;Paschou et al, 2010]. Interestingly, obese women have been reported to have higher Nampt/visfatin and lower HMWA levels, both basally and in response to oral glucose challenge [Unluturk et al, 2010] and visfatin/PBEF may play a role in the regulation of the complex and dynamic crosstalk between inflammation and metabolism during pregnancy [Mazaki-Tovi et al, 2010].…”

Section: à7mentioning

confidence: 98%

Genome‐wide association analysis of age at onset in schizophrenia in a European‐American sample

Wang

Zhang³

et al. 2011

American J of Med Genetics Pt B

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We performed a genome-wide association analysis to identify genetic variants influencing age at onset (AAO) and examine gene × gender interactions for AAO in schizophrenia (SCZ) using a European-American sample (1,162 cases). Linear regression model in PLINK was used to test for associations with AAO while the GxE option was chosen to test for the influence of gene × gender interactions. The most significant association with AAO was observed with SNP rs7819815 (P = 3.10×10(-7)) at 8q24.22. The next best signal was at 4q25 in COL25A1 gene (rs17039583, P = 4.30×10(-6)) and the third region was at 4p16.1 (rs17407555, P = 4.56×10(-6) , near RAF1P1, and rs4697924, P = 1.23×10(-5) within WDR1 gene). Conditional analysis on chromosome 4 indicated that 4p16.1 and 4q25 loci were independent. Furthermore, 2 SNPs (rs16834822 and rs16834824) at 1q43 in RYR2 showed strong associations in the female sample (P = 2.10×10(-6) and 2.33×10(-6) , respectively) and strong gene × gender interactions in influencing AAO (P = 9.23×10(-7) and 1.15×10(-6) , respectively) while the second best region showing gene × gender interaction was at 7q22.3 (rs179863, P = 2.33×10(-6) ). Using an independent sample of 1,068 cases, we could not replicate the associations for above top SNPs; however, we found nominal significance associations for their flanking SNPs (P < 0.05). These findings provide evidence of several genetic variants influencing AAO of SCZ.

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“…Abbreviations: AKT, protein kinase B; BMAL1, aryl hydrocarbon receptor translocator-like protein 1; cADPR, cyclic ADP-ribose; CLOCK, circadian locomoter output cycles protein kaput; eNAMPT, extracellular nicotinamide phosphoribosyltransferase; ERK, extracellular signal-regulated kinase; iNAMPT, intracellular nicotinamide phosphoribosyltransferase; NAD, nicotinamide adenine dinucleotide; NAM, nicotinamide; NF-κB, nuclear factor κB; NMN, nicotinamide mononucleotide; NMNAT, nicotinamide/nicotinic acid mononucleotide adenylyltransferase; NR, nicotinamide riboside; NRKs, nicotinamide riboside kinases; p38 MAPK, mitogen-activated protein kinase p38; PARP, poly(ADP-ribose) polymerase; PI3K, phosphatidylinositol 3-kinase; PRPP, 5'-phosphoribosyl-1-pyrophosphate; SIRT, sirtuin; STAT, signal transducer and activator of transcription; TGF-β, transforming growth factor β; TNF-α, tumour necrosis factor α. the development of obesity or T2DM. [78][79][80] The relevance of genetic variations in NAMPT in disease development might depend on whether the active site, assembly of the active NAMPT dimer or expression of NAMPT is affected.…”

Section: Pathophysiological Role Of Namptmentioning

confidence: 99%

Physiological and pathophysiological roles of NAMPT and NAD metabolism

et al. 2015

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Nicotinamide phosphoribosyltransferase (NAMPT) is a regulator of the intracellular nicotinamide adenine dinucleotide (NAD) pool. NAD is an essential coenzyme involved in cellular redox reactions and is a substrate for NAD-dependent enzymes. In various metabolic disorders and during ageing, levels of NAD are decreased. Through its NAD-biosynthetic activity, NAMPT influences the activity of NAD-dependent enzymes, thereby regulating cellular metabolism. In addition to its enzymatic function, extracellular NAMPT (eNAMPT) has cytokine-like activity. Abnormal levels of eNAMPT are associated with various metabolic disorders. NAMPT is able to modulate processes involved in the pathogenesis of obesity and related disorders such as nonalcoholic fatty liver disease (NAFLD) and type 2 diabetes mellitus (T2DM) by influencing the oxidative stress response, apoptosis, lipid and glucose metabolism, inflammation and insulin resistance. NAMPT also has a crucial role in cancer cell metabolism, is often overexpressed in tumour tissues and is an experimental target for antitumour therapies. In this Review, we discuss current understanding of the functions of NAMPT and highlight progress made in identifying the physiological role of NAMPT and its relevance in various human diseases and conditions, such as obesity, NAFLD, T2DM, cancer and ageing.

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Genetic variation in the visfatin (PBEF1/NAMPT) gene and type 2 diabetes in the Greek population

Cited by 15 publications

References 22 publications

NAMPT -3186C/T polymorphism affects repaglinide response in Chinese patients with Type 2 diabetes mellitus

NAMPT -3186C/T polymorphism affects repaglinide response in Chinese patients with Type 2 diabetes mellitus

Genome‐wide association analysis of age at onset in schizophrenia in a European‐American sample

Physiological and pathophysiological roles of NAMPT and NAD metabolism

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