Srivastava Kamna, Biswas Utpal Kumar, Narang Rajeev, Varghese Joji Jacob, Das Nibhriti
Department of Biochemistry, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
Community Genet. 2005;8(3):180-3. doi: 10.1159/000086761.
Endothelial nitric oxide synthase (eNOS) Glu298Asp polymorphisms are under extensive study worldwide due to their suggested role in cardiovascular disorders. This polymorphism had gained more attention since several reports suggest its association with hypertension and coronary artery disease (CAD). Asian Indians are highly susceptible to ischemic heart dis eases. We determined the prevalence of eNOS Glu298 Asp polymorphism in 139 healthy volunteers from Delhi and the surrounding areas. The subjects were recruited from those who willingly participated in this study in response to a publicized call and a standard questionnaire. Male to female ratio was 2.7:1 due to the larger number of male participants in this investigation. This, however, does not represent normal male to female distribution in the area. Despite the male bias, this investigation was justified. The prevalence of CAD in males is about 3 times higher in this region and no data had so far been available on the distribution of this polymorphism from India.
The eNOS Glu298Asp polymorphism was studied by PCR-RFLP.
Distribution of genotype GG, GT and TT in the study subjects was found to be 71.22, 28.06 and 0.72%, respectively, and allele frequency was G,0.853;T,0.147.
T allele had been described as susceptibility allele for CAD in several population studies. The frequency of the T allele was found to be two times higher in our subjects than that reported for Japanese and Korean populations. This study does not provide any direct evidence for eNOS gene disease associations but is the first report on the prevalence of eNOS Glu298Asp gene polymorphism in Indian subjects. Whether the observed pattern of eNOS Glu298Asp polymorphism contributes to the greater susceptibility of Asian Indians to CAD as compared to the other population groups, needs to be investigated.
内皮型一氧化氮合酶(eNOS)Glu298Asp多态性因其在心血管疾病中的潜在作用而在全球范围内受到广泛研究。自从有几份报告表明其与高血压和冠状动脉疾病(CAD)相关以来,这种多态性受到了更多关注。亚洲印度人极易患缺血性心脏病。我们测定了来自德里及周边地区的139名健康志愿者中eNOS Glu298Asp多态性的患病率。研究对象是那些响应公开招募并填写标准问卷后自愿参与本研究的人。由于本次调查中男性参与者较多,男女比例为2.7:1。然而,这并不代表该地区正常的男女分布情况。尽管存在男性偏倚,但本次调查仍具有合理性。该地区男性CAD患病率约为女性的3倍,且目前尚无来自印度的关于这种多态性分布的数据。
采用聚合酶链反应 - 限制性片段长度多态性(PCR - RFLP)方法研究eNOS Glu298Asp多态性。
研究对象中基因型GG、GT和TT的分布分别为71.22%、28.06%和0.72%,等位基因频率为G,0.853;T,0.147。
在多项人群研究中,T等位基因被描述为CAD的易感等位基因。我们研究对象中T等位基因的频率比日本和韩国人群报告的频率高出两倍。本研究未提供eNOS基因与疾病关联的直接证据,但却是关于印度人群中eNOS Glu298Asp基因多态性患病率的首次报告。与其他人群相比,eNOS Glu298Asp多态性的观察模式是否导致亚洲印度人对CAD更易感,有待进一步研究。