Correlation of plasma dopamine β-hydroxylase activity with polymorphisms in DBH gene:: A study on eastern indian population
Correlation of plasma dopamine β-hydroxylase activity with polymorphisms in DBH gene:: A study on eastern indian population
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DOI：
10.1007/s10571-007-9256-8
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发表时间：
2008-05-01
影响因子：
4
通讯作者：
Mukhopadhyay, Kanchan
中科院分区：
文献类型：
--
作者：
Bhaduri, Nipa;Mukhopadhyay, Kanchan
血浆多巴胺β-羟化酶活性（plD β H）受到DBH基因的严格调节，并且已经发现几种遗传多态性独立地发挥它们的影响。在本研究中，来自印度东部西孟加拉的100个无关个体的血液样本中检测了4种DBH多态性，DBH-STR，rs 1611115，rs 1108580和rs 2519152与plD β H的关联。PCR扩增和限制性酶切后获得的基因型用于统计分析。用光度法测定plD β H，用方差分析和线性回归分析其与遗传多态性的相关性。DBH-STR与rs 1611115之间存在中度连锁不平衡（LD），而rs 1108580和rs 2519152之间存在较强的LD。rs 1611115的“T”等位基因与plD β H呈显著负相关，而DBH-STR、rs 1108580和rs 2519152对plD β H无显著影响。四种单倍型对plD β H有显著影响。这是第一份关于印度次大陆plD β H基因多态性影响的报告。rs 1611115是显示对plD β H有实质性控制的唯一多态性。其他未显示个体效应的多态性可能是携带控制plD β H的功能多态性的较大单倍型块的一部分。
Plasma dopamine beta-hydroxylase activity (plD beta H) is tightly regulated by the DBH gene and several genetic polymorphisms have been found to independently exert their influence. In the present investigation, association of four DBH polymorphisms, DBH-STR, rs1611115, rs1108580, and rs2519152 with plD beta H was examined in blood samples from 100 unrelated individuals belonging to the state of West Bengal, Eastern India. Genotypes obtained after PCR amplification and restriction digestion were used for statistical analyses. plD beta H was measured using a photometric assay and its correlation with the genetic polymorphisms was analyzed using analysis of variance and linear regression. Moderate linkage disequilibrium (LD) was observed between DBH-STR and rs1611115, while rs1108580 and rs2519152 were in strong LD. 'T' allele of rs1611115 showed strong negative correlation with plD beta H, whereas DBH-STR, rs1108580 and rs2519152 had no major effect. Four haplotypes showed significant influence on plD beta H. This is the first report on the effect of genetic polymorphisms on plD beta H from the Indian sub-continent. rs1611115 was the only polymorphism that showed substantial control over plD beta H. Other polymorphisms which did not show individual effects could possibly be part of larger haplotype blocks that carry the functional polymorphisms controlling plD beta H.