Genetic of Chronic Kidney Disease and Gout : Analysis of Melanesian Families From New Caledonia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 1,858
- 试验地点
- 2
- 主要终点
- Genome-wide association study (GWAS) in gout
研究概览
简要总结
The goal of this research is to study the associations of genetic variants of gout and kidney failure, which are very common in the Melanesian population in New Caledonia
详细描述
Gout is a chronic pathology linked to the deposition in the tissues of monosodium urate (MSU) crystals, secondary to hyperuricemia (high blood levels of urate). Gout causes very painful joint attacks that are first acute and then lead to chronic pain, and disabling deforming manifestations called tophus. The disease is strongly associated with cardiovascular comorbidities and chronic renal failure.
In New Caledonia, the prevalence of chronic kidney disease (CKD) (according to the glomerular filtration rate (GFR) < 60 ml/min) was of 7.4% in 2015 (according to the epidemiological study "Barometer Health 2015"). In the Loyalty Islands, which has overall significantly more Melanesian population, a local database showed that in 2018 the prevalence of patients having at least one blood test reporting kidney disease (GFR CKD< 60 ml/min) and seen at least once in the previous two years was as follows:
- 7.7% in Lifou (9,200 inhabitants)
- 8.4% in Maré (5,700 inhabitants)
- 9.1% in Ouvéa (3,400 inhabitants) In summary, inflammatory diseases such as CKD and gout have high prevalence in New Caledonia and the Loyalty Islands, and constitute a major health issue. Although the high prevalence of these diseases is probably due in part to non-genetic factors (environment, diet, etc.), it is likely, given the demographic history of this region, that undetected genetic risk alleles among the Melanesian population contribute to the appearance and progression of diseases. Performing genetic and epidemiological studies in an as yet understudied region is essential to identify these variants, which could lead to improved diagnoses and health outcomes.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Other
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 80 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Criteria common to the 3 cohorts :
- •- Consenting to participate in the study and having signed the informed consent
- •- Claiming to be of Melanesian ethnicity
- •Patients with gout :
- •Age: 18 - 70 years old
- •To be included in the study, a patient with a diagnosis of gout in his medical file or declaring to have gout will have to satisfy to the ACR/EULAR (ref) classification criteria :
- •have had at least one episode of swelling, pain spontaneous, or triggered by pressure, of a joint peripheral or a bursa AND evidence of sodium urate crystals in a joint or bursitis symptomatic or by puncture of a tophus reported in his medical file.
- •Or Score > or =8 according to ACR/EULAR clinical criteria
- •Patients with CKD
- •Age: 18 - 70 years old
- •Patients on dialysis or CKD clinically diagnosed on the basis of:
- •Markers of kidney damage (one or more) : Albuminuria (ACR ≥ 30 mg/g), Urinary sediment abnormalities (e.g., casts urinary), Electrolyte abnormalities and other, abnormalities due to tubular disorders (eg, hyperkalemia), abnormalities detected by histology, structural abnormalities detected by imaging (e.g.,USG), history of kidney transplantation
- •Decreased kidney function: GFR < 60 ml/min/1.73 m² (calculated according to the Chronic Kidney Disease - EPIdemiology formula: CKD-EPI)
- •Controls cohort
- •Absence of gout or CKD
- •Age: 30 - 80 years old
排除标准
- •Pregnant women
- •Individuals under guardianship / curatorship / judicially incapacitated
研究组 & 干预措施
Patients with gout
Patients aged 18-70 with gout diagnosis in their medical record or claiming to have gout according to ACR/EULAR (American College of Rheumatology (ACR)/European League Against Rheumatism (EULAR) criteria.
干预措施: Epidemiological study (Other)
Control group
Persons aged 30-80 without gout or CKD. The recruitment will be done among people visiting the medical centers of Lifou and Maré for administrative or vaccination reasons.
干预措施: Epidemiological study (Other)
Patients with CKD
Patients aged 18-70, in dialysis or with CKD clinically diagnosed on the basis of markers of kidney damage or decreased kidney function.
Patients will be recruited in dialysis centers of Wé and Maré and during the monthly nephrology consultations in medical centers.
干预措施: Epidemiological study (Other)
结局指标
主要结局
Genome-wide association study (GWAS) in gout
时间窗: 8 months
GWAS is a research approach used to identify genomic variants that are statistically associated with a risk for a disease or a particular trait. The method involves surveying the genomes of many people, looking for genomic variants that occur more frequently in those with a specific disease or trait compared to those without the disease or trait. Once such genomic variants are identified, they are typically used to search for nearby variants that contribute directly to the disease or trait.
GWAS in CKD
时间窗: 8 months
Genome-wide association study (GWAS) and Phenome-wide association studies (PheWAS) will be used. GWAS is a research approach used to identify genomic variants that are statistically associated with a risk for a disease or a particular trait. The method involves surveying the genomes of many people, looking for genomic variants that occur more frequently in those with a specific disease or trait compared to those without the disease or trait. Once such genomic variants are identified, they are typically used to search for nearby variants that contribute directly to the disease or trait. PheWAS will be used to analyze many phenotypes compared to a single genetic variant (or other attribute).
Phenome-wide association studies (PheWAS) in gout
时间窗: 8 months
PheWAS will be used to analyze many phenotypes compared to a single genetic variant (or other attribute).
PheWAS in CKD
时间窗: 8 months
PheWAS will be used to analyze many phenotypes compared to a single genetic variant (or other attribute).
次要结局
- Relation between CKD and sex(8 months)
- Relation between CKD and the Body Fat Percentage(8 months)
- Relation between CKD and Basal Metabolism(8 months)
- Relation between gout and Basal Metabolism(8 months)
- Relation between CKD and waist size(8 months)
- Mendelian randomization(8 months)
- Metabolomic profile in gout(8 months)
- GWAS and severity of gout(8 months)
- Relation between gout and sex(8 months)
- Link between gout and Body Mass Index (BMI)(8 months)
- Relation between gout and the Body Fat Percentage(8 months)
- Relation between gout and hip circumference(8 months)
- Relation between gout and waist/hip ratio(8 months)
- Metabolomic profile in CKD(8 months)
- GWAS and severity of CKD according to glomerular filtration rate (GFR)(8 months)
- Relation between gout and Muscle Mass Percentage(8 months)
- Relation between CKD and Visceral Fat Percentage(8 months)
- Relation between CKD and Muscle Mass Percentage(8 months)
- Relation between CKD and height(8 months)
- Relation between gout and height(8 months)
- Relation between gout and waist size(8 months)
- Relation between CKD and waist/hip ratio(8 months)
- Relation between CKD and age(8 months)
- Relation between gout and age(8 months)
- Relation between CKD and Body Mass Index (BMI)(8 months)
- Relation between gout and Visceral Fat Percentage(8 months)
- Relation between CKD and hip circumference(8 months)