Family-based genome-wide association study in Patagonia confirms the association of theDMDlocus and cleft lip and palate

2015 ◽  
Vol 123 (5) ◽  
pp. 381-384 ◽  
Author(s):  
Renata F. Fonseca ◽  
Flávia M. de Carvalho ◽  
Fernando A. Poletta ◽  
David Montaner ◽  
Joaquin Dopazo ◽  
...  
Keyword(s):  
Association Study ◽  
Cleft Lip ◽  
Genome Wide Association Study ◽  
Cleft Lip And Palate ◽  
Genome Wide Association ◽  
Genome Wide ◽  
Family Based

Searching for new genes and loci involved in cleft lip and palate in the Polish population – genome-wide association study

2016 ◽  
Vol 83 (3) ◽  
pp. 265-268 ◽  
Author(s):  
Adrianna Mostowska ◽  
Kamil K. Hozyasz ◽  
Piotr Wójcicki ◽  
Barbara Biedziak ◽  
Joanna Wesoły ◽  
...  
Keyword(s):  
Association Study ◽  
Cleft Lip ◽  
Genome Wide Association Study ◽  
Cleft Lip And Palate ◽  
Genome Wide Association ◽  
Polish Population ◽  
Orofacial Clefts ◽  
New Genes ◽  
Genome Wide ◽  
History Of

The project “Searching for new genes and loci involved in cleft lip and palate in the Polish population – genome-wide association study” is a case-control study in a group of unrelated subjects with non-syndromic cleft lip with or without cleft palate (NSCL/P) and healthy individuals with no family history of clefting or other congenital disorders. The overall goal of this grant proposal is to identify novel genetic factors, which can play a significant role in the pathogenesis of orofacial clefts in the Polish population. To accomplish the proposed aim, a two stage genome-wide association study will be performed. In the first stage, Illumina's HumanOmni Express BeadChips arrays will be used to genotype over 700,000 polymorphisms in NSCL/P patients and controls. In the second stage, SNPs showing the most compelling association with the risk of orofacial clefts will be tested in an independent sample set using standard genotyping methods. This research project is expected to be completed in July 2015.

scholarly journals P1-142: A GENOME-WIDE ASSOCIATION STUDY IMPLICATES EHPA6 FOR ALZHEIMER DISEASE IN FAMILY-BASED ANALYSIS

2019 ◽  
Vol 15 ◽  
pp. P291-P292
Author(s):  
Donghe Li ◽  
John Farrell ◽  
Lindsay A. Farrer ◽  
Gyungah R. Jun ◽  
Sungho Won
Keyword(s):  
Alzheimer Disease ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Genome Wide ◽  
A Genome ◽  
Family Based

scholarly journals Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

2009 ◽  
Vol 42 (1) ◽  
pp. 24-26 ◽  
Author(s):  
Elisabeth Mangold ◽  
Kerstin U Ludwig ◽  
Stefanie Birnbaum ◽  
Carlotta Baluardo ◽  
Melissa Ferrian ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Association Study ◽  
Cleft Lip ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Susceptibility Loci ◽  
Genome Wide

scholarly journals Erratum: A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

2010 ◽  
Vol 42 (8) ◽  
pp. 727-727 ◽  
Author(s):  
Terri H Beaty ◽  
Jeffrey C Murray ◽  
Mary L Marazita ◽  
Ronald G Munger ◽  
Ingo Ruczinski Jacqueline B Hetmanski ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Association Study ◽  
Cleft Lip ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Risk Variants ◽  
Genome Wide ◽  
A Genome

scholarly journals Genome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density

BMC Genomics ◽  
2016 ◽  
Vol 17 (1) ◽  
Author(s):  
Benjamin H. Mullin ◽  
John P. Walsh ◽  
Hou-Feng Zheng ◽  
Suzanne J. Brown ◽  
Gabriela L. Surdulescu ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Association Study ◽  
Bone Mineral ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Mineral Density ◽  
Genome Wide ◽  
Family Based

A family-based genome-wide association study reveals an association of spondyloarthritis with MAPK14

2016 ◽  
Vol 76 (1) ◽  
pp. 310-314 ◽  
Author(s):  
Félicie Costantino ◽  
Alice Talpin ◽  
Roula Said-Nahal ◽  
Ariane Leboime ◽  
Elena Zinovieva ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
P Value ◽  
Nucleotide Polymorphisms ◽  
Genetic Associations ◽  
Gwas Study ◽  
Genome Wide ◽  
Multiplex Families ◽  
Family Based

ObjectiveMore than 40 loci have been associated with ankylosing spondylitis (AS), but less is known about genetic associations in spondyloarthritis (SpA) as a whole. We conducted a family-based genome-wide association study (GWAS) to identify new non-major histocompatibility complex (MHC) genetic factors associated with SpA.Methods906 subjects from 156 French multiplex families, including 438 with SpA, were genotyped using Affymetrix 250K microarrays. Association was tested with Unphased. The best-associated non-MHC single nucleotide polymorphisms (SNPs) were then genotyped in two independent familial cohorts (including 215 French and 294 North American patients with SpA, respectively) to replicate associations.Results43 non-MHC SNPs yielded an association signal with SpA in the discovery cohort (p<1×10−4). In the extension studies, association was replicated at a nominal p value of p<0.05 for 16 SNPs in the second cohort and for three SNPs in the third cohort. Combined analysis identified an association close to genome-wide significance between rs7761118, an intronic SNP of MAPK14, and SpA (p=3.5×10−7). Such association appeared to be independent of HLA-B27.ConclusionsWe report here for the first time a family-based GWAS study on SpA and identified an associated polymorphism near MAPK14. Further analyses are needed to better understand the functional basis of this genetic association.

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