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ArtikelReplication of endometriosis-associated single-nucleotide polymorphisms from genome-wide association studies in a Caucasian population  
Oleh: Sundqvist, J. ; Xu, H. ; Vodolazkaia, A. ; Fassbender, A. ; Kyama, C.M. ; Bokor, A.
Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Human Reproduction vol. 28 no. 03 (Mar. 2013), page 835-839.
Topik: endometriosis ; single-nucleotide polymorphism ; replication
  • Perpustakaan FK
    • Nomor Panggil: H07.K.2013.01
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Isi artikelSTUDY QUESTION Is it possible to replicate the previously identified genetic association of four single-nucleotide polymorphisms (SNPs), rs12700667, rs7798431, rs1250248 and rs7521902, with endometriosis in a Caucasian population? SUMMARY ANSWER A borderline association was observed for rs1250248 and endometriosis (P = 0.049). However, we could not replicate the other previously identified endometriosis-associated SNPs (rs12700667, rs7798431 and rs7521902) in the same population. WHAT IS KNOWN ALREADY Endometriosis is considered a complex disease, influenced by several genetic and environmental factors, as well as interactions between them. Previous studies have found genetic associations with endometriosis for SNPs at the 7p15 and 2q35 loci in a Caucasian population. STUDY DESIGN, SIZE, DURATION Allele frequencies of SNPs were investigated in patients with endometriosis and controls. PARTICIPANTS/MATERIALS, SETTING, METHODS Blood samples and peritoneal biopsies were taken from a Caucasian female population consisting of 1129 patients with endometriosis and 831 controls. DNA was extracted for genotyping. The study was performed at a University hospital and research laboratories. MAIN RESULTS AND THE ROLE OF CHANCE A weak association with endometriosis (all stages) was observed for rs1250248 (P = 0.049). No significant associations were observed for the SNPs rs12700667, rs7798431 and rs7521902. A non-significant trend towards the association of rs1250248 with moderate/severe endometriosis was observed (odds ratio 1.18, 95% confidence interval 0.97–1.44). LIMITATIONS, REASONS FOR CAUTION The inability to confirm all previous findings may result from differences between populations and type II errors. WIDER IMPLICATIONS OF THE FINDINGS Our result demonstrates the difficulty of identifying common genetic variants in complex diseases. STUDY FUNDING/COMPETING INTEREST(S) This study was supported by grants from the Karolinska Institutet and Stockholm City County/Karolinska Institutet (ALF), Stockholm, Sweden, Swedish Medical Research Council (K2007-54X-14212-06-3, K2010-54X-14212-09-3), Stockholm, Sweden, Leuven University Research Council (Onderzoeksraad KU Leuven), the Leuven University Hospitals Clinical Research Foundation (Klinisch onderzoeksfonds) and by the National Scientific Foundation (Fonds voor Wetenschappelijk Onderzoek, FWO). The authors have no conflict of interest.
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