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Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data.

ABSTRACT: OBJECTIVES:Obesity as measured by body mass index (BMI) is one of the major risk factors for osteoarthritis. In addition, genetic overlap has been reported between osteoarthritis and normal adult height variation. We investigated whether this relationship is due to a shared genetic aetiology on a genome-wide scale. METHODS:We compared genetic association summary statistics (effect size, p value) for BMI and height from the GIANT consortium genome-wide association study (GWAS) with genetic association summary statistics from the arcOGEN consortium osteoarthritis GWAS. Significance was evaluated by permutation. Replication of osteoarthritis association of the highlighted signals was investigated in an independent dataset. Phenotypic information of height and BMI was accounted for in a separate analysis using osteoarthritis-free controls. RESULTS:We found significant overlap between osteoarthritis and height (p=3.3×10(-5) for signals with p?0.05) when the GIANT and arcOGEN GWAS were compared. For signals with p?0.001 we found 17 shared signals between osteoarthritis and height and four between osteoarthritis and BMI. However, only one of the height or BMI signals that had shown evidence of association with osteoarthritis in the arcOGEN GWAS was also associated with osteoarthritis in the independent dataset: rs12149832, within the FTO gene (combined p=2.3×10(-5)). As expected, this signal was attenuated when we adjusted for BMI. CONCLUSIONS:We found a significant excess of shared signals between both osteoarthritis and height and osteoarthritis and BMI, suggestive of a common genetic aetiology. However, only one signal showed association with osteoarthritis when followed up in a new dataset.

SUBMITTER: Elliott KS

PROVIDER: S-EPMC3664369 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature

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Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data.

Elliott Katherine S KS Chapman Kay K Day-Williams Aaron A Panoutsopoulou Kalliope K Southam Lorraine L Lindgren Cecilia M CM Arden Nigel N Aslam Nadim N Birrell Fraser F Carluke Ian I Carr Andrew A Deloukas Panos P Doherty Michael M Loughlin John J McCaskie Andrew A Ollier William E R WE Rai Ashok A Ralston Stuart S Reed Mike R MR Spector Timothy D TD Valdes Ana M AM Wallis Gillian A GA Wilkinson Mark M Zeggini Eleftheria E

Annals of the rheumatic diseases 20120906 6

<h4>Objectives</h4>Obesity as measured by body mass index (BMI) is one of the major risk factors for osteoarthritis. In addition, genetic overlap has been reported between osteoarthritis and normal adult height variation. We investigated whether this relationship is due to a shared genetic aetiology on a genome-wide scale.<h4>Methods</h4>We compared genetic association summary statistics (effect size, p value) for BMI and height from the GIANT consortium genome-wide association study (GWAS) with ...[more]

PMID: 22956599

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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

Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data.

Publications

Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data.

Similar Datasets

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