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Disease Markers
Volume 31, Issue 6, Pages 371-377

SREBP-2 1784 G/C Genotype is Associated with Non-Alcoholic Fatty Liver Disease in North Indians

Surya Prakash Bhatt,1,2,4,6,7 Priyanka Nigam,3,5 Anoop Misra,3,4 Randeep Guleria,2 Kalpana Luthra,1 M. Vaidya,5 S. K. Jain,6 and M. A. Qadar Pasha7

1Department of Biochemistry, New Delhi, India
2Department of Medicine, All India Institute of Medical Sciences, New Delhi, India
3National Diabetes, Obesity, and Cholesterol Foundation, Diabetes Foundation (India), New Delhi, India
4Fortis C-DOC Centre of Excellence for Diabetes, Metabolic Diseases and Endocrinology, Aruna Asaf Ali Marg, Vasant Kunj, New Delhi, India
5Department of Food and Nutrition, Govt. M.H. College of Home science and Science for woman, Jabalpur, India
6Department of Biotechnology, Jamia Hamdard, New Delhi, India
7Institute of Genomics and Integrative Biology, Delhi, India

Received 15 December 2011; Accepted 15 December 2011

Copyright © 2011 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Background: Genetics of non-alcoholic fatty liver (NAFLD) in Asian Indians has been inadequately investigated. This study aims to determine the association of the 1784G > C polymorphism in the SREBP-2 gene with NAFLD in Asian Indians in north India.

Methods: In this study, (n = 335); 162 obese with NAFLD, 91 obese without NAFLD and 82 non-obese without NAFLD subjects were recruited. Abdominal ultrasound, clinical profile, anthropometry, metabolic profile, serum levels of alanine aminotransferase, aspartate aminotransferase, fasting insulin and high sensitivity C-reactive protein (hs-CRP) were analysed. Polymerase chain reaction and restriction fragment length polymorphism were used to identify individual genotypes, and the association of this polymorphism with clinical and biochemical parameters was assessed.

Results: The observed frequency of G allele was 0.73 and C allele was 0.27. Frequency of C/C genotype was higher in NAFLD as compared to obese and non-obese subjects (p = 0.003). In NAFLD subjects 57.4% were G/G homozygous, 31.5% G/C heterozygous and 11.1% were C/C homozygous. The SREBP-2 genotype frequencies deviated from the Hardy Weinberg Equilibrium (X2 = 6.39, p = 0.0114). Mean values of TG (p = 0.002), TC (p = 0.002), ALT (p = 0.04) and AST (p =0.03) levels were significantly higher in NAFLD subjects with G/C genotype as compared to G/G genotypes in obese and non-obese groups. Fasting insulin (p = 0.03), HOMA (p = 0.009) and hs-CRP levels were significantly higher in NAFLD subjects with G/C genotype as compared to obese and non obese subjects with G/G genotypes.

Conclusion: In this study, conducted for the first time in Asian Indians, SREBP-2 1784 G > C genotype was associated with NAFLD.