Prevalence of DAO (diamino Oxidase) Deficiency in Newborns
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 200
- 试验地点
- 1
- 主要终点
- AOC1 gene variants
研究概览
简要总结
Observational study to estimate the prevalence of genetic DAO deficiency in the population.
详细描述
Diamine oxidase (DAO) is an enzyme encoded by the AOC1 gene responsible for the degradation of extracellular histamine. There are different factors that can induce a decrease in the DAO activity, with genetic origin being the main one. Currently, multiple genes have been identified SNPs that can alter the correct functioning of the DAO. The four most relevant SNPs that lead to a reduction in the enzymatic activity of DAO or a transcriptional activity decreased in this are the following: c.47C>T (rs10156191), c.995C>T (rs1049742), c.1990C>G (rs1049793) and c.-691G>T (rs2052129). Clinical studies indicate that DAO deficiency has a high prevalence in diseases such as Migraine (87%), fibromyalgia (75%) or attention deficit hyperactivity disorder (ADHD) in children (75%). However, to date no study has been conducted exploring the prevalence gene of DAO deficiency in the general population. Thus, the objective of this study is to estimate the prevalence of genetic DAO deficiency in the population.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 0 Days 至 3 Days（Child）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Both sexes
- •Explicit acceptance of the parents or guardians of participation through the signature of the informed consent
排除标准
- 未提供
结局指标
主要结局
AOC1 gene variants
时间窗: In a range from day of birth up to 3 days of life
DAO deficiency will be defined as the presence of at least one of the SNPs of the AOC1 gene described previously, with reference rs10156191, rs1049742, rs1049793 and rs2052129
次要结局
- Sex(In a range from day of birth up to 3 days of life)
- Demographic characteristics(In a range from day of birth up to 3 days of life)