Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG
Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG
复制标题
DOI：
10.1136/bjo.2009.167494
复制
发表时间：
2011-05-01
影响因子：
4.1
通讯作者：
Renieri, Alessandra
中科院分区：
文献类型：
--
作者：
Frezzotti, Paolo;Pescucci, Chiara;Renieri, Alessandra
背景/目的 评估 WDR36 序列变异与意大利患者原发性开角型青光眼 (POAG) 的关系。方法 通过变性高效液相色谱法对 34 个受 POAG 影响的意大利家庭进行 WDR36 基因突变分析。在纳入的 34 个家庭中，25 个家庭患有高眼压青光眼 (HTG)，4 个家庭患有青少年开角型青光眼，1 个家庭患有正常眼压青光眼。此外，四个家系在同一家系中同时出现青少年开角型青光眼和HTG-POAG患者。 结果 已鉴定出四种先前鉴定的内含子多态性（IVS5+30C -> T；IVS12+90G -> T；IVS13+89G -> A；IVS16-30A -> G）和一种新的多态性（IVS21-75G -> A）。此外，还发现一名先证者携带 p.D658G 突变，据报道该突变是更容易复发的致病等位基因。 结论 研究结果表明，WDR36 序列变异只是意大利家庭中青光眼的罕见原因。显然，需要对其他家族进行广泛的研究来阐明 WDR36 在青光眼病理生理学中的作用。
Background/aims To assess the involvement of WDR36 sequence variance in primary open-angle glaucoma (POAG) in Italian patients.Methods A cohort of 34 Italian families affected by POAG was analysed by denaturing high-performance liquid chromatography for mutation in the WDR36 gene. Among the 34 families enrolled, 25 were affected by high-tension glaucoma (HTG), four by juvenile open-angle glaucoma and one by normal tension glaucoma. In addition, four families presented both juvenile open-angle glaucoma and HTG-POAG patients within the same pedigree.Results Four previously identified intronic polymorphisms (IVS5+30C -> T; IVS12+90G -> T; IVS13+89G -> A; IVS16-30A -> G) and a novel one (IVS21-75G -> A) have been identified. In addition, one proband was found to carry the p.D658G mutation reported as the more recurrent disease-causing allele.Conclusions The findings suggest that WDR36 sequence variance is only a rare cause of glaucoma in Italian families. Clearly, investigation of additional families with extensive studies is needed to clarify the role of WDR36 in the pathophysiology of glaucoma.