The haptoglobin promoter polymorphism rs5471 is the most definitive genetic determinant of serum haptoglobin level in a Ghanaian population.
The haptoglobin promoter polymorphism rs5471 is the most definitive genetic determinant of serum haptoglobin level in a Ghanaian population.
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DOI：
10.1016/j.cca.2018.05.029
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发表时间：
2018-08
期刊：
影响因子：
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通讯作者：
M. Soejima;K. Teye;Y. Koda
中科院分区：
文献类型：
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作者：
M. Soejima;K. Teye;Y. Koda
背景血清触珠蛋白（HP）水平在不同的临床条件和个体之间存在差异。近年来，有研究发现rs 5472和rs 2000999等位基因与血清HP水平相关，但在非洲人群中尚未见相关研究。在这里，我们探讨的关系，不仅这些多态性，但也rs 5470和rs 5471血清HP水平在121 Ghanaians.MethodsGenotyping的rs 2000999进行PCR水解探针，而其他多态性已经基因分型。血清HP水平通过夹心ELISA.ResultsWe观察到rs 5471和血清HP水平之间的显着关联（p= 0.026）。在HP 2/HP 2和HP 2/HP 1亚组中也观察到这种现象。此外，我们检测到具有rs 2000999的A等位基因的个体的HP水平比不具有A的个体的HP水平更低的趋势，但其没有统计学显著性（p= 0.156）。然而，我们没有观察到其他多态性和血清HP水平，观察欧洲人和亚洲人，因为小样本量和影响HP level.ConclusionsWe的SNP的复杂性之间的明确关联表明，rs 5471是一个强大的遗传决定因素HP水平在加纳人，这似乎是非洲人的特点。大规模样本的进一步研究将有助于了解血清HP水平个体差异的遗传背景。
BackgroundThe serum haptoglobin (HP) level varies in various clinical conditions and among individuals. Recently, the common HP alleles, rs5472, and rs2000999 have been reported to associate with serum HP level, but no studies have been done on Africans. Here, we explored the relationship of not only these polymorphisms but also rs5470 and rs5471 to the serum HP level in 121 Ghanaians.MethodsGenotyping of rs2000999 was performed by PCR using hydrolysis probes, while the other polymorphisms have been already genotyped. Serum HP level was measured by a sandwich ELISA.ResultsWe observed a significant association between rs5471 and the serum HP level (p= 0.026). It was also observed within the subgroups of HP2/HP2and HP2/HP1. In addition, we detected a trend toward lower HP levels for individuals with the A allele of rs2000999 than those without A, but it was not statistically significant (p= 0.156). However, we did not observe the clear associations between other polymorphisms and serum HP level that were observed for Europeans and Asians because of the small sample size and the complexity of SNPs affecting the HP level.ConclusionsWe suggest that rs5471 is a strong genetic determinant of HP levels in Ghanaians, and this seems to be characteristic of Africans. Further investigation using large scale samples will help in understanding the genetic background of individual variability of the serum HP level.