Dataset Information

Quantifying genetic heterogeneity between continental populations for human height and body mass index.

ABSTRACT: Genome-wide association studies (GWAS) in samples of European ancestry have identified thousands of genetic variants associated with complex traits in humans. However, it remains largely unclear whether these associations can be used in non-European populations. Here, we seek to quantify the proportion of genetic variation for a complex trait shared between continental populations. We estimated the between-population correlation of genetic effects at all SNPs ([Formula: see text]) or genome-wide significant SNPs ([Formula: see text]) for height and body mass index (BMI) in samples of European (EUR; [Formula: see text]) and African (AFR; [Formula: see text]) ancestry. The [Formula: see text] between EUR and AFR was 0.75 ([Formula: see text]) for height and 0.68 ([Formula: see text]) for BMI, and the corresponding [Formula: see text] was 0.82 ([Formula: see text]) for height and 0.87 ([Formula: see text]) for BMI, suggesting that a large proportion of GWAS findings discovered in Europeans are likely applicable to non-Europeans for height and BMI. There was no evidence that [Formula: see text] differs in SNP groups with different levels of between-population difference in allele frequency or linkage disequilibrium, which, however, can be due to the lack of power.

SUBMITTER: Guo J

PROVIDER: S-EPMC7933291 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature

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Quantifying genetic heterogeneity between continental populations for human height and body mass index.

Guo Jing J Bakshi Andrew A Wang Ying Y Jiang Longda L Yengo Loic L Goddard Michael E ME Visscher Peter M PM Yang Jian J

Scientific reports 20210304 1

Genome-wide association studies (GWAS) in samples of European ancestry have identified thousands of genetic variants associated with complex traits in humans. However, it remains largely unclear whether these associations can be used in non-European populations. Here, we seek to quantify the proportion of genetic variation for a complex trait shared between continental populations. We estimated the between-population correlation of genetic effects at all SNPs ([Formula: see text]) or genome-wide ...[more]

PMID: 33664403

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Project description:BackgroundChildren with familial dysautonomia (FD) are smaller and grow more slowly than the general population. It is unknown whether this abnormal growth is due to comorbidities that patients with FD live with, or if it is a direct effect of the disease-causing homozygous ELP-1 mutations. Here, we created growth curves for weight, height, and body mass index (BMI) in male and female children with FD to monitor the nutritional status of patients with FD.MethodsWe used the New York University (NYU) FD Registry which includes data from 680 individuals with FD who were followed longitudinally since birth. We generated sex-specific FD growth charts for three age ranges (birth to 36 months, 2 to 20 years, and 2 to 40 years) and compared them to the general population. We generated Kaplan-Meier curves to test the hypothesis that FD patients with low BMI had shorter survival than the rest of the cohort.ResultsGrowth charts generated from 591 individuals with FD show that these patients grow more slowly, reach less height, and gain less weight than the general population. The impact of FD on height was more pronounced in girls than in boys. However, both groups showed markedly low weights, which resulted in low BMI. Low weight, but not height, is already evident at birth. In a subpopulation of FD patients, we found that treatment with growth hormone or spinal fusion surgery helped patients achieve the expected growth characteristic of FD patients, but these treatments did not lead FD patients to achieve the growth pattern of the general population. Contrary to our hypothesis, low BMI had no impact on patient survival.ConclusionsPediatric patients with FD have lower height, weight, and BMI compared to the general pediatric population, but this does not appear to affect survival. Growth curves specific to the FD population are an important tool to monitor growth and nutritional status in pediatric patients with FD when the general population growth curves are of limited use.

Dataset Information

Quantifying genetic heterogeneity between continental populations for human height and body mass index.

Publications

Quantifying genetic heterogeneity between continental populations for human height and body mass index.

Similar Datasets

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