Margaret Cooper, PhD




Bridgeside Point Building
100 Technology Drive, Suite 500
Pittsburgh, PA 15219

Research Assistant Professor/Statistician

Department of Oral Biology
School of Dental Medicine

Research Interests

Oral-facial cleft families: Phenotype and Genetics:  Oral-facial clefts, particularly cleft lip with or without cleft palate (CL/P) are very common congenital anomalies. Despite years of research, the etiology of these defects is unclear. One of the reasons that prior studies have not yet succeeded may be that the cleft is not the proximate expression of the genes involved.  Therefore, in this project we are assessing multiple phenotypes in the unaffected relatives of cleft individuals in order to better define the phenotype segregating at a genetic level. The ultimate goal of these studies is to identify genes involved in the etiol­ogy of cleft lip with or without cleft palate in the U.S.

Genetics of oral health in Appalachia:  States in Appalachia (notably West Vir­ginia) have some of the worst oral health care indica­tors in the U.S. Therefore, the purpose of this project is to assess behavioral, environmental and genetic factors that influence oral health in the region, with the ultimate goal of developing intervention to reduce the disparity compared to the rest of the U.S.

Identification of maternal and fetal genetic factors in preterm birth:  Premature birth/delivery (PTD) is one of the most common conditions affecting maternal, fetal, and infant health. Despite years of research, the etiol­ogy of PTD is unclear. Therefore, the purpose of these studies is to identify maternal and fetal genetic factors involved in the etiology of PTD drawing on families from multiple sites in the U.S. and South America. Different aspects of prematurity (Retinopathy of Prematurity (ROP), Patent Ductus Arteriosus (PDA), sepsis, effects of Vitamin D) are being explored.

Genetics of myopia: Since the prevalence of myopia among adults in America recently has been estimated to be 33% with associated annual costs on the order of $3.8 billion, myopia is a public health concern. Candidate gene studies as well as epidemiologic studies have indicated that myopia is genetic. Hereditary and environmental risk factors have been investigated and evidence suggests that vitamin D metabolism may be altered in myopia.

Genetics of Caries: The University of Pittsburgh School of Dental Medicine has a Dental Registry and DNA Repository allowing investigation of the genetics of caries as impacted on the general health of the patient. Association of caries with other medical disorders (asthma, epilepsy, diabetes, CVD), with possible environmental effects (infections, medications) and with demographic information are investigated.

Recent Publications

Silva LA, Ribeiro LA, Cooper ME, Marazita ML, Moretti-Ferreira D. Transmission analysis of candidate genes for nonsyndromic oral clefts in Brazilian parent-child triads with recurrence. Genetics and Molecular Biology 29(3):439-442, 2006.

Riley BM, Schultz RE, Cooper ME, Goldstein MT, Daack-Hirsch S, Kee KT, Dragan E, Vieira AR, Lidral AC, Marazita ML, Murray JC. A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23. Am J Med Genet 143(8):846-852, 2007.

Neiswanger KN, Weinberg SM, Rogers CR, Brandon CA, Cooper ME, Bardi KM, Deleyiannis FWB, Resick JR, Bowen A, Mooney MP, de Salamanca JE, Gonzalez B, Maher BS, Martin RA, Marazita ML. Orbicularis Oris Muscle Defects as an Expanded Phenotypic Feature in Nonsyndromic Cleft Lip with or without Cleft Palate.  American Journal of Medical Genetics 143A(11):1143-1149, 2007.

Mutti D, Cooper ME, O'Brien S, Jones L, Marazita ML, Murray JC, and Zadnik K.   Candidate gene and locus analysis of myopia. Molecular Vision 13:1012-1019, 2007 PMID: 17653045.

Vieira AR, Cooper ME, Marazita ML, Orioli IM, Castilla EE.  Inferon regulatory factor 6 (IRF6) is associated with oral-facial cleft in individuals that originate in South America. American Journal of Medical Genetics, Part A, 143A:2075-2078, 2007. PMID: 17702008

Steffen KM, Cooper ME, Shi M, Caprau D, Simhan HN, Dagle JM, Marazita ML, Murray JC.  Maternal and fetal variation in genes of cholesterol metabolism is associated with preterm delivery.  Journal of Perinatology, 27(11):672-680, 2007 [2007 Sep13; Epub ahead of print]. PMID: 17855807

Ehn NL, Cooper ME, Orr K, Shi M, Johnson MK, Caprau D, Dagle J, Steffen K, Johnson K, Marazita ML, Merrill D, Murray JC.  Evaluation of fetal and maternal genetic variation in the progesterone receptor gene for contributions to preterm birth.  Pediatric Research, 62(5):630-635, 2007 [2007 Aug 31; Epub ahead of print].  PMID: 17805208

Patir A, Seymen F, Yildirim M, Deeley K, Cooper ME, Marazita ML, Vieira AR.  Enamel formation genes are associated with high caries experience in Turkish Children.  Caries Research 42:394-400, 2008, PMID: 18781068

Mohamed S, Schaa K, Cooper ME, Ahrens E, Alvarado A, Colaizy T, Marazita, ML., Murray JC, Dagle  JN. Genetic Contributions to the Development of Retinopathy of Prematurity. Pediatric Research, [Sep 10, 2008 [Epub ahead of print], 65(2) 193-197,  PMID: 18787502

Vieira AR, Cooper ME, Marazita ML, Castilla EE, Orioli IM.  Reduced folate carrier 1 (RFC1) is associated with cleft of the lip only.  Braz J Med Biol Res 41(8):689-693, 2008. PMID: 18797703.

Rahimov F, Marazita, ML., Visel A, Cooper ME, Hitchler MJ, Rubini M, Domann FE, Govil M, Christensen K, Bille C, Mads M, Jugessur A, Lie RT, Wilcox, AJ, Fitzpatrick DR, Green ED, Murray JC.  Disruption of an AP-2α Binding Site in an IRF6 Enhancer is Strongly Associated with Cleft Lip. Nature Genetics, 40(11):1341-1347, 2008 [Oct 5 Epub ahead of print], PMID: 18836445.

Menezes R, Marazita, ML., McHenry T, Cooper ME, Bardi, K, Brandon C, Letra A, Martin RA, Vieira AR. AXIS inhibition protein 2, orofacial clefts and family history for cancer. J Am Dent Assoc, 140(1):80-84, 2009.  PMID: 19119171

Cummings KJ, Klotz C, Lui W-Q, Weese-Mayer DE, Marazita ML, Cooper ME, Berry-Kravis EM, Tobias R, Goldie C, Bech-Hansen NT, Wilson RJA.  Sudden Infant Death Syndrome (SIDS) in African Americans:  Polymorphisms in the gene encoding the stress peptide pituitary adenylate cyclase-actiivating polypepetide (PACAP).  Acta Pediatrica, 2008, [Dec 17 Epub ahead of print].  PMID: 19220039

Choi SJ, Marazita ML, Hart PS, Sulima PP, Field LL, McHenry TG, Govil M, Cooper ME, Letra A, Menezes R, Narayanan S, Mansilla MA, Granjeiro JM, Vieira AR, Lidra AC, Murray JC, Hart TC.  The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P.  Eur J Hum Genet 2008 [Dec 17 Epub ahead of print}.  PMID: 19092777

Suzuki S, Marazita ML, Cooper ME, Miwa N, Hing A, Jugessur A, Natsume N, Shimozato K, Ohbayashi N, Suzuki Y, Niimi T, Minami K, Yamamoto M, Altannamar TJ, Erkhembaatar T, Furukawa H, Daack-Hirsch S, L’Heureux J, Brandon CA, Weinberg SM, Neiswanger K, Deleyiannis FWB, de Salamanca JE, Vieira AR, Lidral AC, Martin JF, and Murray JC.  Mutations in BMP4 are Associated with Subepithelial, Microform, and Overt Cleft Lip.  Am J Hum Genet 84:406-411, 2009. PMID: 19249007 

Marazita ML, Lidral AC,  Murray JC, Field LL, Maher BS, McHenry TG, Cooper ME, Govil M, Daack-Hirsch S, Riley B, Jugessur A, Felix T, Moreno L, Mansilla MA, Vieira AR, Doheny K, Pugh E, Valencia-Ramirez C, Arcos-Burgos M.  Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype specific differences in linkage and association results. Hum Hered 68:151-170 2009; PMID: 19521098

Ferreira de Lima R, Hoper, SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, Hehr U, Dixon MJ, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti-Ferreira D, Murray JC, Schutte BC. Prevalence and Non-random Distribution of Exonic Mutations in Interferon Regulatory Factor 6 (IRF6) in 307 Families with Van der Woude Syndrome and 37 Families with Popliteal Pterygium Syndrome. Genetics in Medicine, 2009  March 10, 2009 [March 10, 2009 Epub ahead of print ] PMID: 19249007

Dagle J, Lepp N, Cooper ME, Schaa K,  Kelsey K,  Orr K,  Caprau D, Zimmerman C, Steffen K, Johnson K, Marazita ML, Murray JC. Determination of Genetic Predisposition to Patent Ductus Arteriosus in Preterm Infants.   Pediatrics 123(4):1116-23, 2009  PMID: 19336370


Bodnar LM, Catov JM, Zmuda JM, Cooper ME, Parrott MS, Roberts JM, Marazita ML, Simhan HN. Maternal serum 25-hydroxyvitamin D concentrations are associated with small-for-gestational age birth. J Nutrition (in press).


Anjomshoaa I, Cooper ME, Vieira AR. Caries is associated with Asthma and Epileps. Eur J Dent 3:297-303, 2009. PMID: 19826602


Moreno LM, Mansilla MA, Bullard SA, Cooper ME, Busch TD, Machida J, Johnson MK, Brauer D, Krahn K, Daack-Hirsch S, L'heureux J, Valencia-Ramirez C, Rivera D, Lopez AM, Moreno MA, Hing A, Lammer EJ, Jones M, Christensen K, Lie RT, Jugessur A, Wilcox AJ, Chines P, Pugh E, Doheny K, Arcos-Burgos M, Marazita ML, Murray JC, Lidral AC. FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. Hum Mol Genet. 18(24):4879-96, 2009. PMID: 19779022.


Neiswanger K, Chirigos KW, Klotz CM, Cooper ME, Bardi KM, Brandon CA, Weinberg SM, Vieira AR, Martin RA, Czeizel AE, Castilla EE, Poletta FA, Marazita ML. Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate. Am J of Med Genet. Part A. 149A(12):2673-9, 2009. PMID: 19921634


Mohamed S, Schaa K, Cooper ME, Ahrens E, Alvarado A, Colaizy T, Marazita ML, Murray JC, Dagle JM, Genetic contributions to the development of retinopathy of prematurity. Pediatr Res, 65(2):193-7, 2009. PMID: 18787502