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Association analysis of the leptin receptor gene haplotypes with cardiovascular risk phenotypes


Tomas, Željka; Zajc Petranović, Matea; Škarić-Jurić, Tatjana; Smolej Narančić, Nina
Association analysis of the leptin receptor gene haplotypes with cardiovascular risk phenotypes // European Journal of Human Genetics - European Human Genetics Conference 2012 Abstracts / Wirth, Brunhilde (ur.).
Nürnberg, Njemačka: Nature Publishing Group, 2012. str. 214-214 (poster, međunarodna recenzija, sažetak, znanstveni)


Naslov
Association analysis of the leptin receptor gene haplotypes with cardiovascular risk phenotypes

Autori
Tomas, Željka ; Zajc Petranović, Matea ; Škarić-Jurić, Tatjana ; Smolej Narančić, Nina

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

Izvornik
European Journal of Human Genetics - European Human Genetics Conference 2012 Abstracts / Wirth, Brunhilde - : Nature Publishing Group, 2012, 214-214

Skup
European Human Genetics Conference 2012

Mjesto i datum
Nürnberg, Njemačka, 23.-26.06.2012

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
LEPR; LD; haplotype; CVD risk factors; Vis cohort

Sažetak
Aims: Leptin is an adipocyte-derived protein with an important role in regulation of food intake, metabolism, reproductive and immune function. It acts through its specific receptor which is predominantly expressed in hypothalamus. Aim of this study was to investigate association of haplotypes of the leptin receptor gene (LEPR) with several cardiovascular (CVD) risk phenotypes, namely, body mass index, waist circumference, serum lipid, fibrinogen and C-reactive protein levels. Methods: We selected 43 single nucleotide polymorphisms (SNP) in and near LEPR gene from genome-wide association study data (Human Hap300 Illumina platform) of 986 inhabitants of the island of Vis, Croatia. We used Haploview software to assess linkage disequilibrium (LD) structure in genomic region of LEPR gene and Unphased software for haplotype association analysis. Results: SNPs were grouped into nine blocks according to LD structure. Although none of the single markers in LD block comprised of six SNPs (rs1782754, rs1171269, rs1022981, rs6673324, rs3790426 and rs1049338) was individually associated with waist circumference, haplotype A-C-A-A-G-A of this LD block showed the strongest association signal, p= 7.085 x 10-22. However, after permutation testing the result was found to be only marginally significant. Conclusion: Haplotype association analysis of CVD risk phenotypes show marginally significant association of LEPR gene only with waist circumference.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Javno zdravstvo i zdravstvena zaštita, Etnologija i antropologija



POVEZANOST RADA


Projekt / tema
196-1962766-2747 - Kompleksna obilježja i zdravlje stanovništva od djetinjstva do duboke starosti (Nina Smolej-Narančić, )

Ustanove
Institut za antropologiju

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE