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ENPP1/PC-1 K121Q polymorphism and genetic susceptibility to type 2 diabetes in North Indians

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Abstract

Genetic susceptibility may be responsible for high prevalence of type 2 diabetes worldwide. A common missense single nucleotide polymorphism, K121Q in the ectoenzyme nucleotide pyrophosphate phosphodiesterase (ENPP1) gene, has recently been associated with type 2 diabetes in Italian, South Indian, and American populations. The objective of this study was to investigate the possible role of K121Q polymorphism in ENPP1 gene with type 2 diabetes in North Indians. The genotype of the ENPP1/PC-1 K121Q polymorphism was determined using polymerase chain reaction-restriction fragment length polymorphism analysis for 328 T2DM patients and 326 non-diabetic participants. Anthropometric and clinical characteristics (Body mass index (BMI), glucose, total cholesterol, triglyceride, high-density lipoprotein cholesterol (HDL), Creatinine, HbA1c, and insulin levels) were measured using standard protocols. Their Chi-square analyses were used to test the significance differences in genotypic and allelic frequencies. Association studies were undertaken using the t test and logistic regression analyses. Our results revealed there was no significant difference in the genotypic distribution between T2DM patients and control subjects. The KK and KQ genotype frequencies were similar in T2DM cases and controls (60.7 and 39.3% in T2DM and 59.8 and 40.2% in controls). No subjects with the QQ genotype were found. Binary logistic regression analysis of data did not show any association of K121Q polymorphism with type 2 diabetes (OR; 0.97, 95% CI; 0.7–1.32, P = 0.82). No significant correlation among the BMI, WHR, BP, TG, TC, HDL-C, LDL-C, Glucose, HbA1c, Creatinine, and insulin indices (HOMA-IR) was observed in the individuals carrying KK and KQ genotypes. In conclusion, our results showed that ENPP1/PC-1 K121Q polymorphism is not associated with type 2 diabetes and related quantitative metabolic traits in North Indian Punjabi population.

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Abbreviations

SNP:

Single nucleotide polymorphism

BMI:

Body mass index

WHR:

Waist hip ratio

DBP:

Diastolic blood pressure

SBP:

Systolic blood pressure

HDL-C:

High-density lipoprotein-cholesterol

LDL-C:

Low-density lipoprotein-cholesterol

HOMA-IR:

Homeostasis model assessment-insulin resistance

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Acknowledgments

This study was supported by grants from the Council of Scientific and Industrial Research (CSIR), New Delhi, India. Our thanks are extended to all the volunteers who rendered repeated help during field recruitments. We also thank the study subjects for their participation.

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Authors and Affiliations

  1. Department of Biotechnology and Bioinformatics, Sri Guru Gobind Singh College, Chandigarh, 160019, India

    Jasvinder Singh Bhatti & A. Joshi

  2. Department of Biochemistry, Panjab University, Chandigarh, India

    G. K. Bhatti

  3. Human Genomics Laboratory, Centre for Global Health and Human Development, School of Sport, Exercise and Health Sciences, Loughborough University, Leicestershire, UK

    S. S. Mastana

  4. Hero DMC Heart Institute, Ludhiana, Punjab, India

    S. Ralhan

  5. Department of Biotechnology, Panjab University, Chandigarh, India

    R. Tewari

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  1. Jasvinder Singh Bhatti
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Correspondence to Jasvinder Singh Bhatti.

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Bhatti, J.S., Bhatti, G.K., Mastana, S.S. et al. ENPP1/PC-1 K121Q polymorphism and genetic susceptibility to type 2 diabetes in North Indians. Mol Cell Biochem 345, 249–257 (2010). https://doi.org/10.1007/s11010-010-0579-2

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  • DOI: https://doi.org/10.1007/s11010-010-0579-2

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