Genome Study in Constitutional Thinness
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 210
- 试验地点
- 1
- 主要终点
- chromosome regions' abnormalities
研究概览
简要总结
Constitutional thinness (CT) is a recently defined entity as a differential diagnosis of anorexia nervosa (AN), considered to be the most frequent cause of low body mass index (BMI) in young women. CT subjects present no AN psychiatric traits, preserved menses, no biological signs of undernutrition and balanced energy metabolism despite a Body Mass Index (BMI) <17 kg / m².
CT familial aggregation, low body mass without a hormonal explanation, and specific appetite regulation profile suggest a specific genetic profile in these subjects.
Objective: A family linkage study in order to identify genes involved in the constitutional thinness phenotype by using genome wide scan (GWAS) techniques Studied population: Fifty families including at least one well phenotyped CT index case (grade 2 or 3 of thinness according WHO classification). Blood or saliva is sampled for DNA extraction.
Perspectives: Revealing eventual abnormalities could lead to a more precise diagnosis of constitutional thinness and new hypothesis in understanding extreme bodyweight mechanisms.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •For all subjects:
- •age > 18 yrs
- •affiliation to health insurance
- •member of a family including at least 2 CT members and overall 3 evaluable members over 2 generations
- •written and signed consent
- •For CT subjects :
- •grade 2 or 3 of thinness according WHO classification
- •women, BMI < 17 kg/m² at 20-30 yrs or < 19 for older subjects
- •men, BMI < 18 kg/m² at 20-30 yrs or < 20 for older subjects
- •absence of DSM criteria for anorexia nervosa
- •young women : normal menses and fat mass percentage 15 % ; absence of DSM criteria for anorexia nervosa
- •men : normal testosterone level
- •For subjects without CT :
- •women, BMI > 19 kg/m²
- •men, BMI > 20 kg/m²
排除标准
- •CT subjects:
- •smoking > 5 cigarettes / day
- •history of emaciating pathologies
- •intense physical activity > 7 hours / week
- •For all subjects :
- •refuse of written consent
结局指标
主要结局
chromosome regions' abnormalities
时间窗: day 1
The linkage study is performed in order to identify one or several chromosome regions linked the constitutional thinness phenotype by using genome wide scan (GWAS) techniques in CT families members.
次要结局
- genetic markers(day 1)