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首页> 外文期刊>Cornea >Mutational Analysis of Pre-miR-184 and hsa-mir-568 in Greek Patients With Sporadic Keratoconus
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Mutational Analysis of Pre-miR-184 and hsa-mir-568 in Greek Patients With Sporadic Keratoconus

机译：希腊散发性圆锥角膜患者前miR-184和hsa-mir-568的突变分析

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Purpose:Despite numerous studies, the causes of keratoconus (KC) remain indefinable. Recently, polymorphisms in the seed region of miR-184 have been identified in familial severe KC and stromal thinning (endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning [EDICT]) syndrome. In this study, we conducted genotyping of microRNA genes localized in the reported KC loci, in a well-defined cohort of Greek sporadic KC patients.Methods:A case-control panel with 61 KC patients and 120 healthy controls was surveyed. DNA from each individual was genotyped for the rs41280052, located within the pre-miR-184 sequence, and hsa-mir-568 rs149509568 polymorphisms, by allele-specific polymerase chain reaction and direct sequencing.Results:Regarding rs41280052, no significant association with KC was observed. The T allele of the rs41280052 was present in 5.74% of KC patients and in 8.75% of healthy controls [P = 1.00, odds ratio (OR): 1.82, 95% confidence interval: 0.11-29.66]. However, the minus allele (G) of the rs149509568 polymorphism was found to be overrepresented in KC patients (P = 0.04, odds ratio: 5.08, 95% confidence interval: 0.97-26.61).Conclusions:Our results demonstrated a significant association between sporadic KC and hsa-mir-568 rs149509568 polymorphism, suggesting a potential role of the has-mir-568 in KC pathogenesis.
机译：目的：尽管进行了大量研究，但圆锥角膜（KC）的病因仍不清楚。最近，已在家族性严重KC和间质变薄（内皮营养不良，虹膜发育不全，先天性白内障和间质变薄[EDICT]）综合征中发现了miR-184种子区的多态性。在这项研究中，我们在一个明确定义的希腊散发性KC患者队列中，对报道的KC基因位点中定位的microRNA基因进行了基因分型。方法：对由61名KC患者和120名健康对照组成的病例对照小组进行了调查。通过等位基因特异性聚合酶链反应和直接测序对来自每个个体的rs41280052基因进行基因分型，分别位于pre-miR-184序列和hsa-mir-568 rs149509568多态性中。结果：关于rs41280052，与KC无明显关联被观测到。 rs41280052的T等位基因存在于5.74％的KC患者和8.75％的健康对照组中[P = 1.00，优势比（OR）：1.82，95％置信区间：0.11-29.66]。然而，发现rs149509568多态性的负等位基因（G）在KC患者中过高（P = 0.04，优势比：5.08,95％置信区间：0.97-26.61）。结论：我们的结果表明散发性之间存在显着相关性KC和hsa-mir-568 rs149509568多态性，提示has-mir-568在KC发病机理中的潜在作用。

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