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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RESULTS

Clinical Characteristics of All Subjects. This study comprised 150 patients (87 males and 63 females) and 150 controls (67 males and 90 females). The sex ratio was 51.3% males to 48.7% females. The ages of the ESRD patients ranged from 31 to 75 years old, with a mean age of 54.68 ± 12.20 years, compared to 25 to 74 years old, with a mean age of 45.82 ± 13.39 years in the controls. The mean serum creatinine (SCr) level for ESRD patients was 9.59 ± 2.95 compared to 0.62 ± 0.23 in the controls, suggesting that patients with a higher level of creatinine are more likely to develop ESRD. There were significant differences for age, creatinine level, systolic blood pressure (SBP), total cholesterol (TC) and triglyceride (TG) levels between ESRD subjects and controls (p <0.05). Creatinine levels, as well as SBP, TC and TG levels in ESRD subjects were higher compared to control subjects. However, there were no significant differences observed in diastolic blood pressure (DBP), high-density lipoprotein (HDL) and low-density lipoprotein (LDL) between ESRD subjects and controls (p >0.05). Genotype and Allele Analysis. Table 1 shows the distribution of genotype and allele frequencies of the eNOS and B2R genes. There was no significant difference observed in both genotype and allele frequencies of the studied polymorphisms between ESRD and controls (p >0.05). The T allele frequency of the c.894G>T gene polymorphism was not significantly different in patients (37.67%) and control subjects (37.33%) (p >0.05). The wild type (4b/b; 87.33%) genotype of variable number tandem repeat (VNTR) in intron 4 of the eNOS gene was dominant, followed by the heterozygous type (4b/a; 11.33%) and the least frequent was the mutant type (4a/a; 1.33%) compared to 79.33, 18.67 and 2.0%, in control subjects, respectively. The derived allele frequency of the T allele of c.181C>T polymorphism was 2.0% in ESRD subjects compared to 1.0% in controls. There was no association found in the c.181C>T polymorphism of the B2R gene among ESRD and control subjects (p >0.05).

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