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      https://www.ias.ac.in/article/fulltext/jgen/089/04/0437-0447

    • Keywords

       

      growth hormone; growth hormone receptor; coronary artery disease; height; Asian Indian.

    • Abstract

       

      We investigated the promoter polymorphisms of the pituitary growth hormone gene (GH1) and exon 3 deletion polymorphism (GHRd3) in its receptor gene (GHR) in 299 angiographically proven patients with coronary artery disease (CAD) and 231 asymptomatic controls enrolled in the ongoing Indian Atherosclerosis Research Study. Real time PCR based analysis of the GHR variant showed significant association of the GHRd3 deletion allele with CAD (OR 0.48, 95% CI: 0.30–0.76, $P = 0.0014$) and a dominant model of inheritance (Akaike information criterion = 482). The deletion allele showed significant association with high plasma HDL-c levels ($P = 0.001$). Sequencing of the proximal promoter region of GH1 revealed 12 novel polymorphisms and a TAGA haplotype constituted by the functional SNPs rs2005171, rs11568828, rs2005172 and rs6171, that showed significant association with CAD alone (adjusted OR of 3.31 (95% CI = 1.33–8.29, $P = 0.011$) and in CAD patients with diabetes ($P = 0.019$). Mean standardized height was associated with three of the four haplotype-tagging SNPs in the cohort ($P \leq 0.03$). Eleven of the 12 polymorphic promoter SNPs contributed to 14.7% of variation in height in females in the whole dataset ($P = 0.029$). CAD patients with history of stroke exhibited marginally significantly lower mean height as compared to rest of the cohort ($P \lt 0.006$). In conclusion, genetic polymorphisms in the GHR gene and its ligand, GH1, may modulate the risk of CAD in the Asian Indian population.

    • Author Affiliations

       

      Arindam Maitra1 Jayashree Shanker1 Debabrata Dash1 Prathima R. Sannappa1 Shibu John2 Pratibha Siwach1 Veena S. Rao3 H. Sridhara2 Vijay V. Kakkar1 4

      1. Mary and Garry Weston Functional Genomics Unit, Thrombosis Research Institute India, 258/A, Bommasandra Industrial Area, Bangalore 560 099, India
      2. Elizabeth and Emmanuel Kaye Bioinformatics and Statistics Unit, Thrombosis Research Institute India, 258/A, Bommasandra Industrial Area, Bangalore 560 099, India
      3. Tata Proteomics and Coagulation Unit, Thrombosis Research Institute India, 258/A, Bommasandra Industrial Area, Bangalore 560 099, India
      4. Thrombosis Research Institute-London, Emmanuel Kaye Building, Manresa Road, Chelsea SW3 6LR, London, UK
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