A single nucleotide polymorphism in the promoter of the LOXL1 gene and its relationship to pelvic organ prolapse and preterm premature rupture of membranes.
A single nucleotide polymorphism in the promoter of the LOXL1 gene and its relationship to pelvic organ prolapse and preterm premature rupture of membranes.
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DOI：
10.1177/1933719108330567
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发表时间：
2009-05
期刊：
影响因子：
--
通讯作者：
Matthews CA
中科院分区：
文献类型：
--
作者：
Ferrell G;Lu M;Stoddard P;Sammel MD;Romero R;Strauss JF 3rd;Matthews CA
盆腔器官脱垂（POP）和早产胎膜早破（PPROM），这两种共同削弱组织拉伸强度的疾病，被认为部分是由异常细胞外基质合成和/或catastrophic引起的。我们在LOXL 1基因的启动子中鉴定了一种新的单核苷酸多态性（SNP）（NT_010194（LOXL 1）：g.45008784A>C），该基因对弹性蛋白合成至关重要。启动子研究表明，次要的“C”等位基因比主要的“A”等位基因具有显著更大的活性。病例对照研究检查了该SNP的等位基因与POP和PPROM的关联。当比较POP病例和对照组的等位基因频率和基因型时，没有发现显著的相关性。在非洲裔美国新生儿中进行的病例对照研究也发现启动子等位基因和PPROM之间没有显著的相关性。我们得出结论，LOXL 1的启动子区域中存在功能性SNP。相关研究表明，启动子SNP不会显著增加POP或PPROM的风险。
Pelvic organ prolapse (POP) and preterm premature rupture of the membranes (PPROM), two conditions which have in common weakening of the tensile strength of tissues, are thought to be caused, in part, by abnormal extracellular matrix synthesis and/or catabolism. We identified a new single nucleotide polymorphism (SNP) (NT_010194(LOXL1):g.45008784A>C) in the promoter of the LOXL1 gene, which is essential for elastin synthesis. Promoter studies showed that the minor “C” allele had significantly greater activity than the major “A” allele. Case-control studies examined the association of the alleles of this SNP with POP and PPROM. When comparing allele frequencies and genotypes in POP cases versus controls, no significant associations were found. A case-control study conducted in African-American neonates also found no significant associations between the promoter alleles and PPROM. We conclude that a functional SNP exists in the promoter region of LOXL1. Association studies suggest that the promoter SNP does not contribute significantly to risk of POP or PPROM.
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影响因子：
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作者：
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通讯作者：
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影响因子：
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DOI：
10.1016/j.ijgo.2008.05.031
发表时间：
2008-10-01
影响因子：
3.8
作者：
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通讯作者：
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