Naslov
Genome-wide meta-analysis of brachial circumference.

Autori
Boraska, Vesna ; Day-Williams, A ; Beazley, C ; Albrecht, E ; Beilin, LJ ; Campbell, H ; Ferrucci, L ; Franklin, C ; Gieger, C ; Hayward, Caroline ; Huth, C ; Klopp, N ; Kolčić, Ivana ; Palmer, LJ ; Pehlić, Marina ; Pennell, CE ; Perry, JRB ; Peters, A ; Polašek, Ozren ; Rudan, Igor ; Vitart, V ; Warrington, NM ; Wichmann, HE ; Wright, AF ; Yaghootkar, H ; Zemunik, Tatijana ; Zgaga, Lina ; Elliott, K ; Zeggini, Elefteria

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
60th Annual Meeting of The American Society of Human Genetics (ASHG) / Walter E. Washington Convention Center - Washington (MD), 2010

Skup
60th Annual Meeting of The American Society of Human Genetics (ASHG)

Mjesto i datum
Washington D.C., Sjedinjene Američke Države, 02.11.2010. - 06.11.2010

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
brachial circumference; Genome-wide meta-analysis; Association analyses

Sažetak
Introduction: Brachial circumference (BC), also known as upper arm or mid arm circumference, can be used as an indicator of muscle mass and fat tissue, which are differently distributed in men and women. The purpose of this study is to identify genetic variants associated with BC through a large-scale genome-wide association scan (GWAS) meta-analysis. Methods: To identify gender-specific effects underlying BC we used fixed-effects meta-analysis to synthesise data from 7 GWAS on 3551 males, 4152 females and on the combined set of 7703 individuals. Association analyses were adjusted for age and BMI. Reported investigations have been carried out following the principles of the Declaration of Helsinki. Results and Discussion: The male-specific meta-analysis identified a signal between the nuclear receptor co-repressor 2 (NCOR2) and scavenger receptor class B, member 1 (SCARB1) genes on chr12 (e.g. rs275771, β= 2.824, 95%CI [1.842, 3.806], p-value=1.74E-08). The NCOR2 gene has been suggested to play a role in the regulating adipose tissue accumulation and NCOR2 +/- mice develop increased adiposity on a high-fat diet but have normal weight on a regular diet. The SCARB1 gene acts as a high-density lipoprotein (HDL) receptor and is involved in both HDL and low-density lipoprotein (LDL) metabolism. The female-specific meta-analysis identified several associated variants within the SEC14-like 5 (S. cerevisiae) (SEC14L5) gene on chr16 (e.g. intronic SNP rs12444698, β= -2.382, 95%CI [-3.306, -1.458], p-value= 4.44E-07). A conserved domain of SEC14L5 gene, Sec14p-like lipid-binding domain, is found in secretory proteins and in lipid regulated proteins. Meta-analysis across males and females identified a region on chr9 spreading across 120kb (e.g. rs2383455, β= -2.025, 95%CI [-2.814, -1.238], p-value= 4.78E-07), with the closest gene 700kb away. Conclusion: In this first GWAS meta-analysis for BC to date, we have identified promising signals (below or close to the genome-wide significance level), which will require replication in independent datasets.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Javno zdravstvo i zdravstvena zaštita

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