Repozitorij Medicinskog fakulteta Sveučilišta u Zagrebu

Genome-wide association study of anthropometric traits in Korcula Island, Croatia

Polašek, Ozren and Marušić, Ana and Rotim, Krešimir and Hayward, Caroline and Vitart, Veronique and Huffman, Jennifer and Campbell, Susan and Janković, Stipan and Boban, Mladen and Biloglav, Zrinka and Kolčić, Ivana and Krželj, Vjekoslav and Terzić, Janoš and Matec, Lana and Tometić, Gordan and Nonković, Dijana and Ninčević, Jasna and Pehlić, Marina and Žedelj, Jurica and Velagić, Vedran and Juričić, Danica and Kirac, Iva and Belak Kovačević, Sanja and Wright, Alan F. and Campbell, Harry and Rudan, Igor (2009) Genome-wide association study of anthropometric traits in Korcula Island, Croatia. Croatian Medical Journal, 50 (1). pp. 7-16. ISSN 0353-9504 (Print) 1332-8166 (Electronic)

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    English abstract

    AIM: To 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. ----- METHODS: The 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). ----- RESULTS: A 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. ----- CONCLUSION: Although 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.

    Item Type: Article
    MeSH: Body Height/genetics ; Body Weight/genetics ; Croatia ; Genome-Wide Association Study ; Genotype ; Humans ; Polymorphism, Single Nucleotide ; Waist-Hip Ratio
    Divisions: Katedra za medicinsku statistiku, epidemiologiju i medicinsku informatiku
    Depositing User: Boris Čičovački
    Status: Published
    Polašek, Ozren
    Marušić, Ana
    Rotim, Krešimir
    Hayward, Caroline
    Vitart, Veronique
    Huffman, Jennifer
    Campbell, Susan
    Janković, Stipan
    Boban, Mladen
    Biloglav, Zrinka
    Kolčić, Ivana
    Krželj, Vjekoslav
    Terzić, Janoš
    Matec, Lana
    Tometić, Gordan
    Nonković, Dijana
    Ninčević, Jasna
    Pehlić, Marina
    Žedelj, Jurica
    Velagić, Vedran
    Juričić, Danica
    Kirac, Iva
    Belak Kovačević, Sanja
    Wright, Alan F.
    Campbell, Harry
    Rudan, Igor
    Date: February 2009
    Date Deposited: 30 Sep 2009
    Last Modified: 23 Sep 2011 18:10
    Subjects: /
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