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Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.

PLoS One. 2014 Jul 07;9(7):e101428. eCollection 2014
Chad Garner 1 , Richard Ahn 1 , Yuan Chun Ding 2 , Linda Steele 2 , Samantha Stoven 3 , Peter H Green 4 , Alessio Fasano 5 , Joseph A Murray 3 , Susan L Neuhausen 2
Chad Garner 1 , Richard Ahn 1 , Yuan Chun Ding 2 , Linda Steele 2 , Samantha Stoven 3 , Peter H Green 4 , Alessio Fasano 5 , Joseph A Murray 3 , Susan L Neuhausen 2
+ et al

[No authors listed]

Author information
  • 1 Epidemiology Department, School of Medicine, University of California Irvine, Irvine, California, United States of America.
  • 2 Population Sciences Department, Beckman Research Institute of City of Hope, Duarte, California, United States of America.
  • 3 Division of Gastroenterology and Hepatology, Department of Immunology, Mayo Clinic, Rochester, MN, United States of America.
  • 4 Celiac Disease Center, Columbia University, New York City, New York, United States of America.
  • 5 Center for Celiac Research, MassGeneral Hospital for Children, Boston, MA, United States of America.

摘要


We performed a genome-wide association study (GWAS) of 1550 North American celiac disease cases and 3084 controls. Twelve SNPs, distributed across four regions (3p21.31, 4q27, 6q15, 6q25), were significantly associated with disease (p-value <1.0×10-7), and a further seven SNPs, across four additional regions (1q24.3, 10p15.1, 6q22.31, 17q21.32) had suggestive evidence (1.0×10-7 < p-value < 1.0×10-6). This study replicated a previous suggestive association within FRMD4B (3p14.1), confirming it as a celiac disease locus. All four regions with significant associations and two regions with suggestive results (1q24.3, 10p15.1) were known disease loci. The 6q22.31 and 10p11.23 regions were not replicated. A total of 410 SNPs distributed across the eight significant and suggestive regions were tested for association with dermatitis herpetiformis and microscopic colitis. Preliminary, suggestive statistical evidence for association with the two traits was found at chromosomes 3p21.31, 6q15, 6q25, 1q24.3 and 10p11.23, with future studies being required to validate the reported associations.

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