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- Seddighzadeh, M, et al.
(author)
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Variants within STAT genes reveal association with anticitrullinated protein antibody-negative rheumatoid arthritis in 2 European populations
- 2012
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In: The Journal of rheumatology. - : The Journal of Rheumatology. - 0315-162X .- 1499-2752. ; 39:8, s. 1509-1516
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Journal article (peer-reviewed)abstract
- STAT3 and 4 are, among other factors, critical for the interleukin 12 (IL-12)-mediated Th1 response, for transfer of IL-23 signals, and for survival and expansion of Th17 cells. We investigated the association of STAT3 and STAT4 polymorphisms with serologically distinct subgroups of rheumatoid arthritis (RA).Methods.A total of 41 single-nucleotide polymorphisms (SNP) within STAT3 and STAT1-STAT4 loci were investigated in a Swedish cohort of 2043 RA cases and 1115 controls. Nine of the associated SNP were tested in a Spanish cohort of 1223 RA cases and 1090 controls.Results.Fourteen SNP in the STAT3 and STAT1-STAT4 loci were associated with anticitrullinated protein antibody (ACPA)-negative RA in the Swedish cohort. Three of the SNP inSTAT4and 2 SNP inSTAT3remained associated with ACPA-negative RA after considering the Spanish results. In addition, rs7574865 and rs10181656, inSTAT4, were associated with ACPA-positive RA in the Swedish study. One of these SNP, rs7574865, showed a similar pattern of the association in serologically distinct subgroups of RA in a metaanalysis of all 7 published studies.Conclusion.Our findings suggest that variants in STAT genes may contribute differentially to susceptibility to RA in seropositive and in seronegative patients.
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- Ferreiro-Iglesias, Aida, et al.
(author)
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Fine mapping of MHC region in lung cancer highlights independent susceptibility loci by ethnicity
- 2018
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In: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 9
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Journal article (peer-reviewed)abstract
- Lung cancer has several genetic associations identified within the major histocompatibility complex (MHC); although the basis for these associations remains elusive. Here, we analyze MHC genetic variation among 26,044 lung cancer patients and 20,836 controls densely genotyped across the MHC, using the Illumina Illumina OncoArray or Illumina 660W SNP microarray. We impute sequence variation in classical HLA genes, fine-map MHC associations for lung cancer risk with major histologies and compare results between ethnicities. Independent and novel associations within HLA genes are identified in Europeans including amino acids in the HLA-B*0801 peptide binding groove and an independent HLA-DQB1*06 loci group. In Asians, associations are driven by two independent HLA allele sets that both increase risk in HLA-DQB1*0401 and HLA-DRB1*0701; the latter better represented by the amino acid Ala-104. These results implicate several HLA-tumor peptide interactions as the major MHC factor modulating lung cancer susceptibility.
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- Iglesias-Rey, M., et al.
(author)
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Psychological Factors Are Associated with Changes in the Health-related Quality of Life in Inflammatory Bowel Disease
- 2014
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In: Inflammatory Bowel Diseases. - 1078-0998. ; 20:1, s. 92-102
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Journal article (peer-reviewed)abstract
- Background:The effect of different sociodemographic and clinical variables on the health-related quality of life (HRQOL) of patients with inflammatory bowel disease (IBD) is currently known, but the influence of psychological factors has not been sufficiently explored. The objective of this study was to identify psychological predictors of HRQOL in patients with IBD.Methods:A cross-sectional prospective study was undertaken including 875 consecutive IBD patients. Independent variables were measured using a sociodemographic and clinical questionnaire, the Hospital Anxiety and Depression Scale (HADS) questionnaire, the Perceived Stress Scale (PSS) questionnaire, and the COPE questionnaire. Dependent variables were measured using the Short Form 36 Health Survey (SF-36) and the Inflammatory Bowel Disease Questionnaire (IBDQ-36). Logistic regression was performed to identify factors associated with HRQOL.Results:The participation rate was 91.3%. Patients with IBD had a poorer HRQOL than the general population except on the Physical Function, Social Function, and Emotional Function Scale. Moreover, high levels of anxiety, depression, and stress were found to be associated with low levels in all quality of life measurements. No significant relationship was found between HRQOL and coping strategies.Conclusions:In patients with IBD, stress, anxiety and depression are important determinants of HRQOL and should therefore be considered in the management of this patient population.
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- Lesseur, Corina, et al.
(author)
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Genome-wide association meta-analysis identifies pleiotropic risk loci for aerodigestive squamous cell cancers
- 2021
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In: PLOS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 17:3
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Journal article (peer-reviewed)abstract
- Squamous cell carcinomas (SqCC) of the aerodigestive tract have similar etiological risk factors. Although genetic risk variants for individual cancers have been identified, an agnostic, genome-wide search for shared genetic susceptibility has not been performed. To identify novel and pleotropic SqCC risk variants, we performed a meta-analysis of GWAS data on lung SqCC (LuSqCC), oro/pharyngeal SqCC (OSqCC), laryngeal SqCC (LaSqCC) and esophageal SqCC (ESqCC) cancers, totaling 13,887 cases and 61,961 controls of European ancestry. We identified one novel genome-wide significant (Pmeta<5x10-8) aerodigestive SqCC susceptibility loci in the 2q33.1 region (rs56321285, TMEM273). Additionally, three previously unknown loci reached suggestive significance (Pmeta<5x10-7): 1q32.1 (rs12133735, near MDM4), 5q31.2 (rs13181561, TMEM173) and 19p13.11 (rs61494113, ABHD8). Multiple previously identified loci for aerodigestive SqCC also showed evidence of pleiotropy in at least another SqCC site, these include: 4q23 (ADH1B), 6p21.33 (STK19), 6p21.32 (HLA-DQB1), 9p21.33 (CDKN2B-AS1) and 13q13.1(BRCA2). Gene-based association and gene set enrichment identified a set of 48 SqCC-related genes to DNA damage and epigenetic regulation pathways. Our study highlights the importance of cross-cancer analyses to identify pleiotropic risk loci of histology-related cancers arising at distinct anatomical sites.
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