Kocsis István, Györffy Balázs, Németh Eva, Vásárhelyi Barna
First Department of Paediatrics, Semmelweis University Budapest, Hungary.
Kidney Int. 2004 May;65(5):1956-8. doi: 10.1111/j.1523-1755.2004.00596.x.
Population-genetic studies investigating genetic polymorphisms of Mendelian inheritance should always test whether the measured genotype frequencies deviate from the expected one. For this purpose Hardy-Weinberg (HW) criteria are generally used. If genotype distribution of control population misses HW equilibrium, the results should be treated cautiously because the observed genotype distribution in control population does not represent genotype distribution in the overall population. If HW criteria are not fulfilled in the investigated population, this may be further evidence for the correlation between genotype and investigated condition.
Between September, 1998, and September, 2003, we tested papers published in Kidney International if HW criteria were ordinarily and correctly checked in studies investigating genetic polymorphisms. Seventy-five genotype distributions of the selected 39 articles were reanalyzed.
HW calculation was reportedly performed in 25 papers (64%). The observed genotype distribution deviated significantly from the expected one in three control, and in 16 patient populations and in three populations of association studies of 15 papers overall; however, this fact was not mentioned in 12 papers.
Although the deviation of genotype distribution from the expected one is important information, HW calculations are not performed routinely for each investigated subject groups in these papers investigating genetic polymorphisms.
调查孟德尔遗传基因多态性的群体遗传学研究应始终检验所测基因型频率是否偏离预期频率。为此，通常采用哈迪 - 温伯格（HW）标准。如果对照人群的基因型分布不符合HW平衡，则结果应谨慎对待，因为对照人群中观察到的基因型分布并不代表总体人群的基因型分布。如果在所研究人群中未满足HW标准，这可能进一步证明基因型与所研究疾病之间的相关性。
在1998年9月至2003年9月期间，我们检查了发表在《国际肾脏病杂志》上的论文，看在研究基因多态性时是否常规且正确地检查了HW标准。对所选39篇文章中的75种基因型分布进行了重新分析。
据报道，25篇论文（64%）进行了HW计算。在总共15篇论文的三个对照人群、16个患者人群以及三项关联研究人群中，观察到的基因型分布与预期分布有显著差异；然而，12篇论文未提及这一事实。
尽管基因型分布与预期分布的偏差是重要信息，但在这些研究基因多态性的论文中，并未对每个研究对象组常规进行HW计算。
