Dr. Bailey-Wilson is collaborating with Drs. Barbara and Ronald Klein and Sudha Iyengar on analyses of existing family data from the Beaver Dam Eye Study (BDES). A private census of the town and township of Beaver Dam, Wisconsin was performed and all individuals between the ages of 43-84 were asked to enroll, given extensive eye examinations and asked to fill out a questionnaire that measures environmental risk factor exposures. We have previously analyzed STRP genome-wide scan (GWS) data on the entire Beaver Dam cohort of families for glaucoma, IOP, refractive error, myopia, hyperopia, and various forms of cataracts. Linkage analyses using a new SNP linkage panel with multiple traits including: refraction, myopia, nuclear sclerosis, etc are underway. Analyses of dense SNPs for finemapping of Chromosome 19 for IOP and 2 smaller glaucoma-associated regions on chromosomes 5 and 6 are currently underway. We published a paper reporting linkage analyses of refractive error this year (1). A study of the genetics of myopia with Dr. Dwight Stambolian is ongoing. Dr. Stambolian has collected pedigrees with myopia from 4 populations. Analyses of refractive error in the Ashkenazi Jewish and Amish families have revealed evidence of a QTL on chromosome 1. A set of about 1500 SNPs were genotyped in our Ashkenazi and Amish families to follow up the linkage of refractive error on chromosome 1;these analyses confirmed our previous linkage of a QTL for refractive error on 1p34-p36. During follow-up of our previous chromosome 22 linkage results for myopia, we have used association and sequencing methods to narrow the region to 3 candidate loci. We are carefully examining these candidates to determine which is the susceptibility locus and are currently performing additional deep sequencing of this region. We published an ordered subsets linkage analysis this year (2) as well as a review paper (3) and another concerning dry eye (4). Drs. Stambolian, Bailey-Wilson and Thomas Meitinger (Germany) are collaborating to perform a GWAS of refractive error in the AREDS and KORA population cohorts and are performing meta-analyses of results from these data with results from the Framingham Eye Study, the MESA study and a study in Sardinia. We will confirm discoveries from these data in several other GWAS and will eventually genotype our strongest association results in independent samples. Dr. Bailey-Wilson is also leading an international consortium on meta-analysis of refractive error and related traits which will increase power to detect common alleles with small effects on this eye trait and its related disorders, myopia and hyperopia. Dr. Bailey-Wilson is a member of a collaborative study of Attention Deficit Hyperactivity Disorder, collaborating with Drs. Max Muenke and Dr. Mauricio Arcos-Burgos. Dr. Bailey-Wilson's role is to help with study design and to serve as advising statistical geneticist on the project. Genome-wide scan genotyping and linkage analysis has been completed on the first set of families followed by finemapping. A paper this year showed that interaction between LPHN3 and 11q doubles risk for ADHD (5). Dr. Bailey-Wilson is collaborating with Dr. Hasan Albacha-Hejazi of the Syrian Arab Republic and Dr. Terri Beaty of Johns Hopkins School of Public Health on linkage and association studies of oral clefts. Data collection is ongoing in the Syrian Arab Republic and more genotyping will be performed when enrollment of a total of 50 families informative for linkage is completed. We are beginning whole-exome sequencing of selected members of these unique pedigrees. We are also collaborating with Dr. Beaty's group on gene-environment interaction analyses of her genome-wide association data in her set of parent-affected offspring trios. Dr. Bailey-Wilson is working with Drs. Forbes Porter, James Mullikin and Sara Hull of NIH and Elaine Tierney of Kennedy Krieger Institute on a genetic study of autism. Evidence for linkage of autistic individuals with hypocholesterolemia has been found. Confirmation in additional data is underway and additional family data are being collected. Special funding from the Office of the Director was sought and awarded to perform whole-exome sequencing studies in autistic patients with extreme cholesterol values and a sibling with either autism or autism spectrum disorder (ASD) to search for rare variants of large effect in this subset of patients with familial autism/ASD. This study has now been expanded to include all family members in families with at least 2 offspring with ASD. Dr. Bailey-Wilson is collaborating with Dr. John Heiss on a study of Chiari Syndrome in Russia. This rare neurological syndrome is observed at increased frequency in several large families from a founder region there. Linkage and family-based association analyses are underway in these families. Dr. Bailey-Wilson also serves in an advisory role on study design and interpretation of results for the Familial Intracranial Aneurysm (IA) consortium. This consortium is using both linkage and genome-wide association methods to detect genetic predisposition to this type of familial strokes. Results of a 6000 SNP genome-wide linkage study previously yielded evidence for linkage of IA on chromosome 4q and chromosome 12p. Significant evidence for a gene x smoking interaction was detected on chromosome 7p. These results suggest it is unlikely that there is a single common variant with a strong effect in the majority of the IA families. Rather, it is likely that multiple genetic and environmental risk factors contribute to the susceptibility for intracranial aneurysms. Linkage analysis using the broadest disease phenotype, including IA, abdominal AA, and thoracic AA, showed evidence for linkage on chromosomes 11 and 6, which supports the concept of shared genetic risk for these different types of aneurysm. We are now pursuing GWAS and DNA sequencing analyses in these data. Dr. Bailey-Wilson also collaborates with Dr. Joan Marini of NICHD on studies of mutation age in a rare disorder, Lethal Recessive Type VIII Osteogenesis Imperfecta, in West Africans and African Americans. A manuscript is under review reporting these results. Dr. Bailey-Wilson is also collaborating with Dr. Larry Brody and Dr. Alexander Wilson of NHGRI on analyses of GWAS data on metabolic traits in the Trinity Study. This work is ongoing. Dr. Bailey-Wilson also served in an advisory capacity to Dr. Ching-Yu Cheng, a Special Volunteer in the Statistical Genetics Section, and this year a paper was published on admixture mapping of obesity related traits in African-Americans (6). Dr. Simpson collaborated this year with a large consortium to perform analyses of GWAS data of height, resulting in a publication in Nature Genetics (7) which found novel loci involved in the variation of this complex trait. Dr. Li is currently collaborating with Dr. Taha E. Taha of Johns Hopkins on epidemiologic studies of AIDs. Two papers have been published this year (8,9) showing effects of anti-retroviral treatment regimens on HIV infection and development of multidrug resistance in infants with HIV-positive mothers in the PEPI-Malawi trial.

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Shah, Rupal L; Li, Qing; Zhao, Wanting et al. (2018) A genome-wide association study of corneal astigmatism: The CREAM Consortium. Mol Vis 24:127-142
Chen, Ying; Gilbert, Melissa A; Grochowski, Christopher M et al. (2018) A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1. PLoS Genet 14:e1007532
Musolf, Anthony M; Simpson, Claire L; Long, Kyle A et al. (2018) Myopia in Chinese families shows linkage to 10q26.13. Mol Vis 24:29-42
Musolf, Anthony M; Simpson, Claire L; Moiz, Bilal A et al. (2017) Caucasian Families Exhibit Significant Linkage of Myopia to Chromosome 11p. Invest Ophthalmol Vis Sci 58:3547-3554
Fu, Jack; Beaty, Terri H; Scott, Alan F et al. (2017) Whole exome association of rare deletions in multiplex oral cleft families. Genet Epidemiol 41:61-69
Afshari, Natalie A; Igo Jr, Robert P; Morris, Nathan J et al. (2017) Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. Nat Commun 8:14898
Holzinger, Emily R; Verma, Shefali S; Moore, Carrie B et al. (2017) Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals. BioData Min 10:25
Xie, Hongbo M; Werner, Petra; Stambolian, Dwight et al. (2017) Rare copy number variants in patients with congenital conotruncal heart defects. Birth Defects Res 109:271-295
Lewis, D D; Shaffer, J R; Feingold, E et al. (2017) Genetic Association ofMMP10,MMP14, andMMP16with Dental Caries. Int J Dent 2017:8465125
Velkova, Aneliya; Diaz, Jennifer E L; Pangilinan, Faith et al. (2017) The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation. Hum Mol Genet 26:4975-4988

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