以色列人群中WRN基因C1367T多态性与老年性白内障无关联。
Lack of association of the WRN C1367T polymorphism with senile cataract in the Israeli population.
作者信息
Ehrenberg M, Dratviman-Storobinsky O, Avraham-Lubin B R, Goldenberg-Cohen N
机构信息
Department of Ophthalmology, Rabin Medical Center, Petach Tikva, Israel.
出版信息
Mol Vis. 2010 Aug 28;16:1771-5.
PURPOSE
Werner syndrome is an autosomal recessive disease of premature aging caused by a polymorphic C1367T mutation in the Werner (WRN) gene. Although there are differences between the pathobiology of normal aging and the phenotype of Werner syndrome, the clinical age-related changes are similar. The aim of the study was to investigate the incidence of the C1367T (rs1346044) polymorphism in patients with age-related cataract.
METHODS
The study group consisted of 81 patients with senile cataract undergoing cataract extraction surgery. Data on age, sex, and medical history of microvascular disease and cancer were obtained from the medical files. Anterior lens capsule material was collected during surgery. DNA was extracted, amplified by polymerase chain reaction, and screened for the C1367T polymorphism in WRN using restriction enzymes followed by sequencing.
RESULTS
There were 33 male and 48 female patients of mean age 74.3+/-9 years. Genotypic frequencies were 67% for TT and 33% for TC. None of the patients had the CC genotype. Ten patients had a history of myocardial infarct, 8 cerebrovascular accident, and 8 various tumors. The distribution of these morbidities was similar in the two genotype groups.
CONCLUSIONS
The distribution of the C1367T WRN polymorphism in patients with senile cataract is similar to that in the normal population. Cataract formation in the elderly is not linked to a WRN mutation.
目的
沃纳综合征是一种由沃纳（WRN）基因多态性C1367T突变引起的常染色体隐性早衰疾病。尽管正常衰老的病理生物学与沃纳综合征的表型存在差异，但临床与年龄相关的变化相似。本研究的目的是调查年龄相关性白内障患者中C1367T（rs1346044）多态性的发生率。
方法
研究组由81例接受白内障摘除手术的老年性白内障患者组成。从病历中获取年龄、性别以及微血管疾病和癌症病史的数据。手术过程中收集晶状体前囊膜材料。提取DNA，通过聚合酶链反应进行扩增，使用限制性内切酶筛选WRN基因中的C1367T多态性，随后进行测序。
结果
有33例男性和48例女性患者，平均年龄74.3±9岁。基因型频率TT为67%，TC为33%。所有患者均无CC基因型。10例患者有心肌梗死病史，8例有脑血管意外病史，8例有各种肿瘤病史。这两种基因型组中这些疾病的分布相似。
结论
年龄相关性白内障患者中C1367T WRN多态性的分布与正常人群相似。老年人白内障的形成与WRN突变无关。
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