Three polymorphisms in IRF6 and 8q24 are associated with nonsyndromic cleft lip with or without cleft palate: Evidence from 20 studies
Three polymorphisms in IRF6 and 8q24 are associated with nonsyndromic cleft lip with or without cleft palate: Evidence from 20 studies
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DOI：
10.1002/ajmg.a.35634
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发表时间：
2012-12
影响因子：
2
通讯作者：
Meilin Wang;Yongchu Pan;Zhengdong Zhang;Lin Wang
中科院分区：
文献类型：
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作者：
Meilin Wang;Yongchu Pan;Zhengdong Zhang;Lin Wang
非综合征性唇腭裂（NSCL/P）是人类最常见的颅颌面畸形之一。干扰素调节因子6（IRF 6）的三个多态性rs 2235371和rs642961，8 q24上的rs 987525，已在多项研究中显示与NSCL/P风险相关。然而，研究之间的关联程度不同。因此，我们进行了Meta分析来研究这种关系。两位作者独立提取了合格研究特征的信息。使用固定或随机效应模型计算总体合并风险估计值。总体而言，Meta分析纳入了20项已发表的病例对照研究。与G等位基因相比，rs 2235371 A等位基因可显著降低NSCLC/P的发病风险（OR：0.73，95%CI：0.61-0.88），而rs642961 A等位基因可显著增加NSCLC/P的发病风险（OR：1.44，95%CI：1.30-1.59）。对于8 q24 rs 987525，与C等位基因相比，A等位基因与NSCL/P的风险显著增加相关（OR：1.71，95%CI：1.40-2.09）。此外，在按种族和NSCL/P类型进行的分层分析中，在种族和类型亚组中仍观察到显著相关性。综上所述，结果表明IRF 6 rs 2235371、rs642961和8 q24 rs 987525多态性与NSCL/P风险相关。© 2012 Wiley Periodicals，Inc.
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common craniofacial malformation in humans. Three polymorphisms, rs2235371 and rs642961 in interferon regulatory factor 6 (IRF6), rs987525 on 8q24, have been shown to be associated with NSCL/P risk in several studies. However, the magnitudes of the association varied between studies. We therefore performed a meta‐analysis to investigate this relationship. Two authors independently extracted information on the characteristics of the eligible studies. Either a fixed‐ or a random‐effects model was used to calculate the overall combined risk estimates. Overall, 20 published case–control studies were included in the meta‐analysis. We found that rs2235371 A allele had a significantly decreased risk (OR: 0.73, 95% CI: 0.61–0.88), whereas rs642961 A allele had a significantly increased risk of NSCL/P (OR: 1.44, 95% CI: 1.30–1.59), compared with the G allele. For 8q24 rs987525, the A allele was associated with a significantly increased risk of NSCL/P, compared with the C allele (OR: 1.71, 95% CI: 1.40–2.09). Furthermore, in the stratified analysis by ethnicity and types of NSCL/P, significant associations were still observed in the subgroups of ethnicity and types. Taken together, the results suggest that the IRF6 rs2235371, rs642961, and 8q24 rs987525 polymorphisms are associated with NSCL/P risk. © 2012 Wiley Periodicals, Inc.