A functional variation in the hypocretin neuropeptide precursor gene may be associated with obstructive sleep apnea syndrome in Japan
A functional variation in the hypocretin neuropeptide precursor gene may be associated with obstructive sleep apnea syndrome in Japan
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DOI：
10.1002/lary.23179
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发表时间：
2012-04-01
期刊：
影响因子：
2.6
通讯作者：
Suzuki, Kenji
中科院分区：
文献类型：
--
作者：
Ahmed, Wael A.;Tsutsumi, Makiko;Suzuki, Kenji
目的/假设：为了评估关联的下丘脑泌素神经肽前体基因（HCRT）的变化与阻塞性睡眠呼吸暂停综合征（OSAS）在一个队列的日本患者，并进一步评估是否显着HCRT的变化有潜在的功能后果HCRT expression.Study设计：病例对照遗传associationstudy.Methods：我们研究了HCRT基因内的遗传变异。研究人群包括100名OSAS患者和100名对照受试者。结果：HCRT基因内含子内存在两种变异，IVS 1 + 16 T>C（rs 9902709）和IVS 1 - 69 G>C，两组间差异有统计学意义（P
Objectives/Hypothesis: To evaluate the association of hypocretin neuropeptide precursor gene (HCRT) variations with obstructive sleep apnea syndrome (OSAS) in a cohort of Japanese patients and to further evaluate whether the significant HCRT variations have potential functional consequences on HCRT expression.Study Design: Case-control genetic association study.Methods: We studied the genetic variations within the HCRT gene. The study population consisted of 100 OSAS patients and 100 control subjects. The HCRT gene was amplified by polymerase chain reaction in all study subjects followed by direct sequencing and analysis of sequencing data.Results: Two genetic variations within the HCRT intron, IVS1+16T>C (rs9902709) and IVS1-69G>C, were identified with significant differences between patients and controls (P