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- Heid, Iris M, et al.
(författare)
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Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 949-960
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Tidskriftsartikel (refereegranskat)abstract
- Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR adjusted for body mass index (comprising up to 77,167 participants), following up 16 loci in an additional 29 studies (comprising up to 113,636 subjects). We identified 13 new loci in or near RSPO3, VEGFA, TBX15-WARS2, NFE2L3, GRB14, DNM3-PIGC, ITPR2-SSPN, LY86, HOXC13, ADAMTS9, ZNRF3-KREMEN1, NISCH-STAB1 and CPEB4 (P = 1.9 × 10⁻⁹ to P = 1.8 × 10⁻⁴⁰) and the known signal at LYPLAL1. Seven of these loci exhibited marked sexual dimorphism, all with a stronger effect on WHR in women than men (P for sex difference = 1.9 × 10⁻³ to P = 1.2 × 10⁻¹³). These findings provide evidence for multiple loci that modulate body fat distribution independent of overall adiposity and reveal strong gene-by-sex interactions.
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- Speliotes, Elizabeth K., et al.
(författare)
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Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 937-948
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Tidskriftsartikel (refereegranskat)abstract
- Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and ~2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 additional individuals. We confirmed 14 known obesity susceptibility loci and identified 18 new loci associated with body mass index (P < 5 × 10−8), one of which includes a copy number variant near GPRC5B. Some loci (at MC4R, POMC, SH2B1 and BDNF) map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor. Furthermore, genes in other newly associated loci may provide new insights into human body weight regulation.
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- Golightly, Yvonne M., et al.
(författare)
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Psychometric Properties of the Foot and Ankle Outcome Score in a Community-Based Study of Adults With and Without Osteoarthritis
- 2014
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Ingår i: Arthritis Care and Research. - : Wiley. - 2151-4658 .- 2151-464X. ; 66:3, s. 395-403
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Tidskriftsartikel (refereegranskat)abstract
- ObjectiveFoot and ankle problems are common in adults, and large observational studies are needed to advance our understanding of the etiology and impact of these conditions. Valid and reliable measures of foot and ankle symptoms and physical function are necessary for this research. This study examined psychometric properties of the Foot and Ankle Outcome Score (FAOS) subscales (pain, other symptoms, activities of daily living [ADL], sport and recreational function [sport/recreation], and foot- and ankle-related quality of life [QOL]) in a large, community-based sample of African American and white men and women ages 50 years. MethodsJohnston County Osteoarthritis Project participants (n = 1,670) completed the 42-item FAOS (mean age 69 years, 68% women, 31% African American, mean body mass index [BMI] 31.5 kg/m(2)). Internal consistency, test-retest reliability, convergent validity, and structural validity of each subscale were examined for the sample and for subgroups according to race, sex, age, BMI, presence of knee or hip osteoarthritis, and presence of knee, hip, or low back symptoms. ResultsFor the sample and each subgroup, Cronbach's alpha coefficients ranged from 0.95-0.97 (pain), 0.97-0.98 (ADL), 0.94-0.96 (sport/recreation), 0.89-0.92 (QOL), and 0.72-0.82 (symptoms). Correlation coefficients ranged from 0.24-0.52 for pain and symptoms subscales with foot and ankle symptoms and from 0.30-0.55 for ADL and sport/recreation subscales with the Western Ontario and McMaster Universities Osteoarthritis Index function subscale. Intraclass correlation coefficients for test-retest reliability ranged from 0.63-0.81. Items loaded on a single factor for each subscale except symptoms (2 factors). ConclusionThe FAOS exhibited sufficient reliability and validity in this large cohort study.
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