Effect of ENPP1/PC-1-K121Q and PPARγ-Pro12Ala polymorphisms on the genetic susceptibility to T2D in the Tunisian population

Bouhaha, R.; Meyre, David; Kamoun, Hassen; Ennafaa, Hajer; Vaillant, Emmanuel; Sassi, R.; Baroudi, Thouraya; Vatin, Vincent; Froguel, Philippe; Elgaaïed, Amel Benammar; Vaxillaire, Martine

doi:10.1016/j.diabres.2008.06.004

Cited by 34 publications

(15 citation statements)

References 46 publications

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“…A subsequent cellular transfection experiment showed that the Q allele was several fold more effective than the K allele in reducing insulin stimulation of IR autophosphorylation, IR substrate-1 phosphorylation, phosphatidylinositol 3-kinase activity, glycogen synthesis and cell proliferation. 18 During the last decade, genetic association studies have found a positive association between K121Q and T2D in Caucasians and Indians, [19][20][21] Tunisians, 22,23 African Americans 24 and Dominicans. 25 The Q allele was also observed to increase the risk of obesity in the Caucasian population.…”

Section: Introductionmentioning

confidence: 99%

The ENPP1 K121Q polymorphism is not associated with type 2 diabetes or obesity in the Chinese Han population

et al. 2010

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Type 2 diabetes (T2D) mellitus is a metabolic disorder characterized by chronic hyperglycemia and insulin resistance. It has been a worldwide public health problem, which is increasing rapidly, especially in developing countries such as China. The ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene, also known as plasma cell membrane glycoprotein 1, has been reported by genetic association studies as being associated with T2D and obesity in various populations, such as Caucasian and African American. However, there are also some controversial results in Asian populations. Our study tried to examine the associations between ENPP1 and T2D and obesity. Rs1044498 (K121Q) and rs7754561 were genotyped in 1912 patients and 2041 control subjects through TaqMan technology on the ABI7900 system. They showed no statistical association with T2D, obesity or any metabolic quantitative traits. Our meta-analysis result was consistent with it. Our study did not replicate the positive association found previously and suggested that K121Q of ENPP1 might not have a major role in the susceptibility to T2D or obesity in the Chinese Han population.

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Section: Introductionmentioning

confidence: 99%

The ENPP1 K121Q polymorphism is not associated with type 2 diabetes or obesity in the Chinese Han population

et al. 2010

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“…) on T2D risk in a meta-analysis combining data of previous studies performed in Tunisian populations from the north, the centre or the south of the country (Bouhaha et al 2008, 2010b, Ouederni et al 2009a, 2009b, Zouari et al 2004, 2005, Mohamed et al 2007, Ezzidi I et al 2009, 2010b, Mehri et al 2010a, 2010b, Baroudi et al 2009, Arfa et al 2008.…”

Section: Capn10(3r/2rmentioning

confidence: 99%

“…Association studies performed on Tunisian population have indeed not been consistently replicated. Although at-risk for T2D in the European population and other ethnic descents, some of studied polymorphisms seem not to be a major contributor to T2D susceptibility in the Tunisian population (Bouhaha et al 2008, Ouederni et al 2009). This absence of association has been usually attributed to the modest sample size of studied cohorts.…”

Section: Introductionmentioning

confidence: 99%

Genetic Susceptibility to Type 2 Diabetes: A Global Meta-Analysis Studying the Genetic Differences in Tunisian Populations

Berhouma¹,

Kouidhi²,

Ammar³

et al. 2012

Human Biology

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The present study is the first meta-analysis to evaluate type 2 diabetes (T2D) -associated polymorphisms in cohorts originated from several Tunisian regions. In fact, we evaluated the effect of seven polymorphisms in the following genes ; PPARg ( Pro12Ala), TNFα (-308A/G), ENPP1(K121Q), TCF7L2(rs7903146 C/T), MTHFR( C677T), ACE(I/D), CAPN10(3R/2R) on T2D risk, through a meta-analysis combining data of previous studies performed on Tunisian populations originating from the north, centre or south of the country. R statistics version 2.12.1 software was used to estimate the heterogeneity between studies. Pooled ORs were computed by the fixed-effects method of Mantel-Haenszel if no heterogeneity between studies exists. Despite the similarities founded in a number of loci, the Woolf test reported that the contributions of ENPP1 and ACE loci in T2D risk are dependent on the geographic origin of concerned groups and this heterogeneity could be attributed not only, to the variable contribution of the variant in T2D risk, but also to diversities of genetic background between tested groups. Interestingly, observed heterogeneity highlighted founding concerning Y chromosome and the mitochondrial DNA about genetic structure of Tunisian population and proves once again that Tunisians, like the north-Africans, are a mosaic of subpopulations, with significant differences in genetic structure. In homogenous groups, we replicated the association of SNPs of TCF7L2, MTHFR, CAPN 10, TNFα and ACE genes with T2D risk in Tunisian population with OR ranging from 1.43 to 6.72. However, we reported an absence of association of PPARg with T2D in Tunisian population.

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“…4,7 Single nucleotide polymorphisms (SNPs) in the PPAR-g gene have been associated with risk of diabetes. [8][9][10] However, few studies of SNPs in the RXR-a gene have been published to date. Because only one SNP might not represent genetic variation in genes, we tested the hypothesis that multiple potentially functional SNPs of the PPAR-g and RXR-a genes were associated individually or jointly with risk of T2DM in a case-control study with moderate sample size (540 cases and 604 controls) in a Chinese Han population.…”

Section: Introductionmentioning

confidence: 98%

Genetic Variants in Peroxisome Proliferator-Activated Receptor-γ and Retinoid X Receptor-α Gene and Type 2 Diabetes Risk: A Case-Control Study of a Chinese Han Population

Cao

et al. 2011

Diabetes Technology & Therapeutics

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Effect of ENPP1/PC-1-K121Q and PPARγ-Pro12Ala polymorphisms on the genetic susceptibility to T2D in the Tunisian population

Cited by 34 publications

References 46 publications

The ENPP1 K121Q polymorphism is not associated with type 2 diabetes or obesity in the Chinese Han population

The ENPP1 K121Q polymorphism is not associated with type 2 diabetes or obesity in the Chinese Han population

Genetic Susceptibility to Type 2 Diabetes: A Global Meta-Analysis Studying the Genetic Differences in Tunisian Populations

Genetic Variants in Peroxisome Proliferator-Activated Receptor-γ and Retinoid X Receptor-α Gene and Type 2 Diabetes Risk: A Case-Control Study of a Chinese Han Population

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