title: Replication study for the association of seven genome- GWAS-identified Loci with susceptibility to ovarian cancer in the Polish population.
abstract: We investigated the previously-demonstrated association of seven genome-wide association studies (GWAS) single nucleotide polymorphisms (SNPs), including rs2072590 (HOXD-AS1), rs2665390 (TIPARP), rs10088218 and rs10098821 (8q24), rs3814113 (9p22), rs9303542 (SKAP1) and rs2363956 (ANKLE1), as risk factors of epithelial ovarian tumors (EOTs). These SNPs were genotyped in two hundred seventy three patients with EOTs and four hundred sixty four unrelated healthy females from the Polish population. We observed the lowest p values of the trend test for the 9p22 rs3814113 and 8q24 rs10098821 SNPs in patients with all subtypes of ovarian cancer (p(trend) = 0.010 and p(trend) = 0.014, respectively). There were also significant p values for the trend of the 9p22 rs3814113 and the 8q24 rs10098821 SNPs for serous histological subtypes of ovarian cancer (p(trend) = 0.006, p(trend) = 0.033, respectively). Moreover, stratification of the patients based on their histological type of cancer demonstrated, in the dominant hereditary model, a significant association of the 9p22 rs3814113 SNP with serous ovarian carcinoma OR = 0.532 (95% CI = 0.342 - 0.827, p = 0.005, p(corr) = 0.035). Despite the relatively small sample size of cases and controls, our studies confirmed some of the previously-demonstrated GWAS SNPs as genetic risk factors for EOTs.
authors.affiliation: Department of Biochemistry and Molecular Biology, Poznań University of Medical Sciences, 6 Święcickiego St., 60-781, Poznań, Poland.
authors.forename: Adrianna
authors.initials: A
authors.lastname: Mostowska
authors.forename: Stefan
authors.initials: S
authors.lastname: Sajdak
authors.forename: Piotr
authors.initials: P
authors.lastname: Pawlik
authors.forename: Janina
authors.initials: J
authors.lastname: Markowska
authors.forename: Monika
authors.initials: M
authors.lastname: Pawałowska
authors.forename: Margarita
authors.initials: M
authors.lastname: Lianeri
authors.forename: Paweł P
authors.initials: PP
authors.lastname: Jagodzinski
mesh_terms: D000328:Adult; D000077216:Carcinoma, Ovarian Epithelial; D016022:Case-Control Studies; D004720:Endonucleases / Q000235:genetics; D005260:Female; D056426:Genetic Loci / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D055106:Genome-Wide Association Study; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D009375:Neoplasms, Glandular and Epithelial / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D033703:Nucleoside Transport Proteins; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics; D011044:Poland / Q000453:epidemiology; D011065:Poly(ADP-ribose) Polymerases / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors
chemical_list: C442019:HOXD1 protein, human; D018398:Homeodomain Proteins; D033703:Nucleoside Transport Proteins; D010750:Phosphoproteins; C108336:SKAP1 protein, human; C579717:TiPARP protein, human; D011065:Poly(ADP-ribose) Polymerases; C579363:ANKLE1 protein, human; D004720:Endonucleases