秦　柏，石海红，朱蓉嵘，张俊芳，杨　梅，管怀进



CRLR基因单核苷酸多态性与原发性前房角关闭人群的关联研究

秦柏，石海红，朱蓉嵘，张俊芳，杨梅，管怀进

Department of Ophthalmology, Affiliated Hospital of Nantong University, Nantong 226001, Jiangsu Province, China

Correspondence to:Hai-Hong Shi. Department of Opthalmology, Affiliated Hospital of Nantong University, Nantong 226001, Jiangsu Province, China. shihaihong2@163.com

Received：2016-04-25Accepted：2016-07-04

•AIM: To study the association of the single nucleotide polymorphism (SNP) rs1157699 in the calcitonin receptor-like receptor (CRLR) gene with primary angle closure (PAC) in a Han Chinese population.

•METHODS: All samples, involved 232 PAC cases and 306 controls, were obtained from an epidemiologic survey conducted in Funing, Jiangsu Province, China. Genotyping were carried out by TaqMan-MGB probe using the real time quantitative polymerase chain reaction system to study the relationship between SNP of rs1157699 in CRLR gene and PAC.

•RESULTS: The prevalence of CRLRrs1157699 genotype was 67.4%, 30.0%, 2.6% for CC, CT, TT in cases, and 71.3%, 27.0%, 1.7% in controls respectively. There was no difference between the two groups in the distribution of genotype and allele frequencies of rs1157699 (P>0.05).

•CONCLUSION: Our results do not support a significant role for rs1157699 in CRLR with PAC.

Citation:Qin B, Shi HH, Zhu RR,etal. Association of the single nucleotide polymorphisms in the calcitonin receptor-like receptor gene with primary angle closure in a Han Chinese population.GuojiYankeZazhi(IntEyeSci) 2016;16(8):1570-1572

摘要

目的：探讨降钙素受体样受体(calcitonin receptor-like receptor，CRLR)基因单核苷酸多态性(single nucleotide polymorpnism，SNP)与汉族原发性前房角关闭人群的关联性。

方法：以流行病学人群为研究对象，采用病例对照设计。收集江苏省阜宁县流行病学调查中筛查出的原发性前房角关闭(primary angle closure，PAC)患者232例，正常对照306例。血样经DNA提取后采用TaqMan-MGB荧光探针法检测CRLR基因的rs1157699(C/T)位点SNP基因型，比较两组等位基因及基因型频率的分布。

结果：病例组的基因型分布(CC 67.4%，CT 30.0%，TT 2.6%)，对照组的基因型分布(CC 71.3%，CT 27.0%，TT 1.7%)，两组之间差异无统计学意义(P>0.05)。

结论：中国汉族人群的CRLR rs1157699位点SNP与原发性前房角关闭无相关性。

关键词：原发性前房角关闭；降钙素受体样受体基因；单核苷酸多态性；中国汉族人群

引用：秦柏，石海红，朱蓉嵘，等.CRLR基因单核苷酸多态性与原发性前房角关闭人群的关联研究.国际眼科杂志2016;16(8):1570-1572

0引言

青光眼是全球第二大致盲眼病，不可逆盲是最主要的原因[1]。原发性闭角型青光眼(primary angle-closure glaucoma，PACG)是我国青光眼的主要类型，至2020年我国PACG的患者数将达到1 009万，约占世界PACG总数的48%[1-2]。根据其自然病程可将PACG分为可疑原发性房角关闭(primary angle closure suspect，PACS)、原发性前房角关闭(primary angle closure，PAC)及PACG三个阶段[3]。

房角关闭最大的危险因素是浅前房和窄房角，但是只有10%窄房角的人会发生房角关闭[4]。如能找出引起窄房角发生房角关闭的关键因素，就有可能阻止房角关闭和青光眼的发生。有研究[5]发现在瞳孔括约肌过度表达降钙素受体样受体(calcitonin receptor-like receptor，CRLR)的转基因鼠易发生瞳孔散大和急性眼压升高。刘杏……