Genetic Predisposition for Development of Nephropathy in Type 2 Diabetes Mellitus

Kumar, Ravindra; Sharma, Raj Kumar; Agarwal, Sarita

doi:10.1007/s10528-013-9613-x

Cited by 18 publications

(13 citation statements)

References 48 publications

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“…Conflicting reports have been made in different populations on the association between the I/D polymorphism in the ACE gene (rs4340) and DN. Our findings are in accordance with the study in French subjects with T2DM, but they differ from most studies performed in Chinese, Japanese and Indian populations, as well as in two meta-analyses in Asian and Arab patients with T2DM [13,19,20,23,25-29]. …”

Section: Discussionsupporting

confidence: 82%

“…Wide inter-ethnic differences have been reported for allele/genotype frequencies of the I/D polymorphism of the ACE gene (rs4340), and these differences have been assumed to be responsible for the contradictory results among association studies in subjects with DN [13,19,20,23-26]. An association between rs4340 and DN was demonstrated in Asian populations (Japan, South India) [20,23] but not in Iran [31] and Malaysia [32].…”

Section: Discussionmentioning

confidence: 99%

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Polymorphism of angiotensin-converting enzyme (rs4340) and diabetic nephropathy in Caucasians with type 2 diabetes mellitus

Šeruga

Makuc

Završnik

et al. 2016

Balkan Journal of Medical Genetics

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Diabetic nephropathy (DN) is the leading cause of endstage renal disease (ESRD) in developed countries. Several environmental and genetic factors predict the development and progression of DN. The renin-angiotensin system was demonstrated to be involved in the development of DN. We evaluated the association between rs4340 of the angiotensin-converting enzyme (ACE) gene and DN in Caucasians with type 2 diabetes mellitus (T2DM) in 276 Slovenian patients with T2DM who had DN, and 375 patients without clinical signs of DN. Genetic analysis was performed with either standard polymerase chain reaction (PCR) (for rs4340). Results were analyzed using the χ2 test and multivariate logistic regression analyses. We found no association between rs4340 and DN. Cystatin C was significantly higher in the DN+ group (p <0.001) than in the DN group. Cystatin C was a better marker for the estimation of renal function than estimated glomerular filtration rate (eGFR) according to the modification diet in renal disease (MDRD) equation mL/ min. We concluded that there was no association between the rs4340 of the ACE gene and DN in Caucasian patients who have T2DM.

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Section: Discussionsupporting

confidence: 82%

Section: Discussionmentioning

confidence: 99%

Polymorphism of angiotensin-converting enzyme (rs4340) and diabetic nephropathy in Caucasians with type 2 diabetes mellitus

Šeruga

Makuc

Završnik

et al. 2016

Balkan Journal of Medical Genetics

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“…31 A recent study found no significant association of ACE I/D polymorphism in the patients with DN in genotype, allele, dominant and recessive models. 36 This study finds significant differences in genotype and alleles when control subjects were compared with patients with DM and DN ( Table 3). The DD genotype was found to be high in both groups of patients.…”

Section: Discussionmentioning

confidence: 82%

Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients with diabetes and nephropathy

Shaikh

Shahid

Mansoor

et al. 2014

J Renin Angiotensin Aldosterone Syst

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Introduction: Diabetes mellitus (DM) has been a growing epidemic worldwide and poses a major socio-economic challenge. The leading cause of DM death is nephropathy due to end-stage renal disease (ESRD). This study aims to identify the possible association of I/D variants of the ACE gene and M268T (rs699) of the AGT gene of renin-angiotensinaldosterone system (RAAS). Materials and methods: Study subjects include 115 patients with DM, 110 with diabetic nephropathy (DN) and 110 controls. Fasting blood samples were collected for biochemical analyses and PCR amplification of specific regions of the ACE and AGT genes using primers. Results: The distribution of ACE (I/D) II 28.8%, ID 35.6% and DD 35.6% while in DN II 24.5%, ID 41% and DD 34.5%. The AGT (M268T) genotypes were distributed in DM as TT 30.4%, MT 66.9% and MM 2.6% while in DN subjects TT 56.4%, MT 42.7% and MM 0.9%. Conclusion: Significant differences were observed in the DD genotype and D allele of the ACE gene and the TT genotype and T allele of AGT genes between diabetic patients with and without nephropathy. The study may conclude that the D allele polymorphism in the ACE gene and the T allele polymorphism in AGT gene may be considered as genetic risk factors for the development of nephropathy in diabetes.

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“…Our finding was supported by Buraczynska [35] who showed that mutant T allele in TCF7L2 gene is powerfully linked to nephropathy, particularly in early inception of diabetes. Recently, Buraczynska [36] and Hussain [5] reported that T allele of TCF7L2 gene confers the possibility of developing nephropathy. On contrary, Wu [4] reported that the TCF7L2 gene was not coupled with diabetic nephropathy and the TCF7L2 gene might contribute to the etiology of nephropathy in T2DM patients in an interactive way with other genes.…”

Section: Discussionmentioning

confidence: 99%

The Combined Effect of ACE, TCF7L2, and PPARGC1A Gene Polymorphisms in Diabetic Nephropathy

et al. 2017

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Keywords: Diabetic nephropathy (DN), Type 2 diabetes mellitus (T2DM), Angiotensinconverting enzyme (ACE), Transcription factor 7-like 2 (TCF7L2), Peroxisome proliferator activated receptor gamma coactivator-1 alpha (PPARGC1A). 62T HIS study was performed for investigation the relationship between variants of ACE, TCF7L2 and PPARGC1A gene polymorphisms individually or in combination with the development of nephropathy in T2DM.T he study was included 85 T2DM patients (45 with nephropathy and 40 without nephropathy), and 45 healthy control subjects. The I/D polymorphism of ACE gene was evaluated by PCR method. The polymorphisms rs7903146 (C/T) of TCF7L2 gene and Gly482Ser (G/A) and Thr394Thr (G/A) of PPARGC1A gene were evaluated by PCR-RFLP analysis.The frequency of ACE DD genotype and D allele was significantly higher in DN patients when compared to diabetic without nephropathy. The frequency of TCF7L2 rs7903146 TT genotype and T allele were significantly associated with DN patients compared to T2DM. Moreover, a significant association in A allelic frequencies was observed in DN cases compared to T2DM patients without nephropathy. No differences in the genotypic and allelic frequencies between T2DM patients with and without nephropathy were found for the Thr394Thr polymorphism.Our study suggested that candidate gene polymorphisms I/D of ACE, rs7903146 of TCF7L2 and Gly482Ser of PPARGC1A individually or in combination may act as susceptibility biomarkers for nephropathy in T2DM. IntroductionThe pathogenesis of diabetic nephropathy (DN) has many genetic and environmental factors contributing to its developing and progression. The ACE gene polymorphism is insertion/deletion (I/D) of a 287-bp sequence of DNA in the intron 16 that could be relating to circulating ACE level which involved in the etiology of DN [1,2].The transcription factor 7-like 2 (TCF7L2) is located on chromosome 10q25.3 which considered the main susceptibility gene for T2DM [3]. Wu [4] was reported that the TCF7L2 gene may be contributed to the etiology of DN in combination with other genes. However, Hussain [5] showed an association between TCF7L2 gene and DN, but this association is not independent of T2DM.Peroxisome proliferator-activated receptor gamma coactivator 1 alpha (PPARGC1A) gene is located on chromosome 4p15.1 that is a biological and positional candidate for T2DM progression [6]. Furthermore, PPARGC1A Gly482Ser polymorphism is associated with diabetic nephropathy [7].There was no enough research available for the genetic combination of ACE, TCF7L2 and PPARGC1A gene polymorphisms in DN. Therefore the aim of this study was to assess the genetic interaction between ACE, TCF7L2 and PPARGC1A polymorphisms in DN development. Subjects and Methods Study subjectsThis study recruited 85 T2DM patients diagnosed at least 5 years before, the patients consecutively attended the diabetes clinic of Internal Medicine Department; Kasr El-Aini Hospital affiliated to Cairo University. Forty five of them (12 males and 33 females) with nephropathy, while ...

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Genetic Predisposition for Development of Nephropathy in Type 2 Diabetes Mellitus

Cited by 18 publications

References 48 publications

Polymorphism of angiotensin-converting enzyme (rs4340) and diabetic nephropathy in Caucasians with type 2 diabetes mellitus

Polymorphism of angiotensin-converting enzyme (rs4340) and diabetic nephropathy in Caucasians with type 2 diabetes mellitus

Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients with diabetes and nephropathy

The Combined Effect of ACE, TCF7L2, and PPARGC1A Gene Polymorphisms in Diabetic Nephropathy

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