Affiliation: The Children's Hospital of Philadelphia
Grant S, Baldassano R, Hakonarson H. Classification of genetic profiles of Crohn's disease: a focus on the ATG16L1 gene. Expert Rev Mol Diagn. 2008;8:199-207 pubmed publisher
Grant S, Bradfield J, Zhang H, Wang K, Kim C, Annaiah K, et al
. Investigation of the locus near MC4R with childhood obesity in Americans of European and African ancestry. Obesity (Silver Spring). 2009;17:1461-5 pubmed publisher
..As such, variants 3' to the MC4R locus present on the genotyping platform utilized confer a similar magnitude of risk of obesity in white children as to their adult white counterparts but this observation did not extend to AAs. ..
Xia Q, Chesi A, Manduchi E, Johnston B, Lu S, Leonard M, et al
. The type 2 diabetes presumed causal variant within TCF7L2 resides in an element that controls the expression of ACSL5. Diabetologia. 2016;59:2360-2368 pubmed publisher
..ACSL5 encodes ACSL5, an enzyme with known roles in fatty acid metabolism. This 'variant to gene mapping' effort implicates the genomic location harbouring rs7903146 as a regulatory region for ACSL5. ..
Grant S, Wang K, Zhang H, Glaberson W, Annaiah K, Kim C, et al
. A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. J Pediatr. 2009;155:909-13 pubmed publisher
..These results strongly suggest that a locus on 8q24 is involved in the pathogenesis of NSCL/P. ..
Sgariglia F, Pedrini E, Bradfield J, Bhatti T, d Adamo P, Dormans J, et al
. The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis. Bone. 2015;72:123-7 pubmed publisher
..Given this observation, we suggest that these loci could possibly modulate shared pathways, in particular with respect to Î²-catenin, and their respective variants interplay to influence HME pathogenesis as well as T2D. ..
Mishra R, Chesi A, Cousminer D, Hawa M, Bradfield J, Hodge K, et al
. Relative contribution of type 1 and type 2 diabetes loci to the genetic etiology of adult-onset, non-insulin-requiring autoimmune diabetes. BMC Med. 2017;15:88 pubmed publisher
..Furthermore, T2D genetic risk plays a small role in LADA, with a degree of evidence for the HNF1A locus, highlighting the potential for genetic risk scores to contribute towards defining diabetes subtypes. ..