ArticleCroatian medical journal2009
Genome-wide association study of anthropometric traits in Korcula Island, Croatia.
Article in Croatian medical journal, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level.BMC medical genetics · 2010Pooled it
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- Validation of Surrogates of Urine Osmolality in Population Studies.American journal of nephrology · 2017Article
- Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine.Pflugers Archiv : European journal of physiology · 2017Review
- Genomic prediction of complex human traits: relatedness, trait architecture and predictive meta-models.Human molecular genetics · 2015Article
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- Inference of identity by descent in population isolates and optimal sequencing studies.European journal of human genetics : EJHG · 2013Article
- Local exome sequences facilitate imputation of less common variants and increase power of genome wide association studies.PloS one · 2013Article
- Impact of common variation in bone-related genes on type 2 diabetes and related traits.Diabetes · 2012Article
- Genome-wide analysis of epistasis in body mass index using multiple human populations.European journal of human genetics : EJHG · 2012Article
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- Characterisation of genome-wide association epistasis signals for serum uric acid in human population isolates.PloS one · 2011Article
- GSA-SNP: a general approach for gene set analysis of polymorphisms.Nucleic acids research · 2010Article
- Interactions between genetic variants in glucose transporter type 9 (SLC2A9) and dietary habits in serum uric acid regulation.Croatian medical journal · 2010Article
- Predictive value of 8 genetic loci for serum uric acid concentration.Croatian medical journal · 2010Article
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26 authors.
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Abstract
aimTo identify genetic variants underlying six anthropometric traits: body height, body weight, body mass index, brachial circumference, waist circumference, and hip circumference, using a genome-wide association study.
methodsThe study was carried out in the isolated population of the island of Korcula, Croatia, with 898 adult examinees who participated in the larger DNA-based genetic epidemiological study in 2007. Anthropometric measurements followed standard internationally accepted procedures. Examinees were genotyped using HumanHap 370CNV chip by Illumina, with a genome-wide scan containing 316730 single nucleotide polymorphisms (SNP).
resultsA total of 11 SNPs were associated with the investigated traits at the level of P<10(-5), with one SNP (rs7792939 in gene zinc finger protein 498, ZNF498) associated with body weight, hip circumference, and brachial circumference (P=3.59-5.73 x 10(-6)), and another one (rs157350 in gene delta-sarcoglycan, SGCD) with both brachial and hip circumference (P=3.70-6.08 x 10(-6). Variants in CRIM1, a gene regulating delivery of bone morphogenetic proteins to the cell surface, and ITGA1, involved in the regulation of mesenchymal stem cell proliferation and cartilage production, were also associated with brachial circumference (P=7.82 and 9.68 x 10(-6), respectively) and represent interesting functional candidates. Other associations involved those between genes SEZ6L2 and MAX and waist circumference, XTP6 and brachial circumference, and AMPA1/GRIA1 and height.
conclusionAlthough the study was underpowered for the reported associations to reach formal threshold of genome-wide significance under the assumption of independent multiple testing, the consistency of association between the 2 variants and a set of anthropometric traits makes CRIM1 and ITGA1 highly interesting for further replication and functional follow-up. Increased linkage disequilibrium between the used markers in an isolated population makes the formal significance threshold overly stringent, and changed allele frequencies in isolate population may contribute to identifying variants that would not be easily identified in large outbred populations.
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