Balkan Journal of Medical Genetics

ANALYSIS OF HUMAN BRADYKININ RECEPTOR GENE AND ENDOTHELIAL NITRIC OXIDE SYNTHASE GENE POLYMORPHISMS IN END-STAGE RENAL DISEASE AMONG MALAYSIANS
Vasudevan R, Ismail P, Jaafar NI, Mohamad NA, Etemad E, Wan Aliaa WS, Eshkor S a These authors contributed equally to this article.
*Corresponding Author: Professor Dr. Patimah Ismail, Department of Biomedical Sciences, Faculty of Medical and Health Science, Universiti Putra Malaysia, Serdang 43400, Selangor DE, Malaysia. Tel.: +60-3-8947-2314. Fax: +60-3-8943-6178. E-mail: patimashimail@gmail.com and Dr. Ramachandran Vasudevan, Institute of Gerontology, Universiti Putra Malaysia, Serdang, Selangor DE, 43400, Malaysia. Tel.: +60-3-8947-2752. Fax: +60-3-8947-2738. E-mail: vasuphd@gmail.com.
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DISCUSSION

Genetic polymorphisms of the B2R and eNOS genes might be involved in the development of ESRD as they were involved in the impairment of renal functions [4,8]. Several studies have been conducted to assess the association of the B2R and eNOS polymorphisms with the risk of ESRD in several populations with contradictory results [9-11]. The c.181C>T; p.Arg14Cys polymorphism in exon 2 of the B2R gene had a similar genotypic frequency in ESRD (98.0%) and control subjects (99.0%) and were well in accordance with the other studies (p>0.05) [12]. Thus, the c.181C>T polymorphism was not functionally significant in Malaysian ESRD subjects. Studies had suggested that the c.894G>T polymorphism may be a predisposing factor in hypertension, diabetes and ESRD [13,14]. In this study, the T allele frequency for ESRD and control subjects was 37.67 and 37.33%, respectively, and were not significantly different. The eNOS 4a allele may have a role in the development of chronic renal failure [11]. The carriers of the 4a allele were found to be less frequent among ESRD cases compared with controls (7.0 vs. 11.3%) but the difference did not reach statistical significance. These findings were not in agreement with other populations [6,11]. The results found in this study were contradictory to the other association studies in several populations, which might be due to population stratification caused by ethnic differences, sampling bias, environmental factors and racial differences that may contribute to the contradictory results. This study did not match either with age or gender between case and control subjects, and all the subjects were not homogenous. Further studies are recommended to confirm the association of these and the other polymorphisms in the eNOS and B2R genes in Malaysians subjects with ESRD. In conclusion, the results of this study suggest that the c.181C>T polymorphism of the B2R gene, 4b/a and c.894G>T polymorphisms in the eNOS gene, were not associated with ESRD susceptibility in Malaysians.

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