Mary L. Marazita, PhD, FACMG


Email
marazita@pitt.edu

Phone
412-648-8380

Office
500 Cellomics/Bridgeside Point Building
100 Technology Drive
Pittsburgh, PA 15219

Position
Professor and Vice Chair, Department of Oral Biology
     School of Dental Medicine
Director, Center for Craniofacial and Dental Genetics

Professor, Human Genetics, Graduate School of Public Health
Professor, Psychiatry, School of Medicine


Research Interests

  1. Oral-facial cleft families: Phenotype and GeneticsOral-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.
  2. 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.
  3. Molecular genetic epidemiology of cleft lip and palate: 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. The birth prevalence of these disorders is highest in Asia. Therefore, the pur­pose of these studies is to identify genes involved in the etiology of cleft lip with or without cleft palate in the Philippines.
  4. 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.

Recent Publications

Marazita ML, Field LL, Tunçbilek G, Cooper ME, Goldstein T, Gürsu KG.  Genome-scan for loci involved in cleft lip with or without cleft palate in consanguineous families from Turkey.  American Journal of Medical Genetics, 126A:111-122, 2004

Schultz RE, Cooper ME, Daack-Hirsch S, Shi M, Nepomucena B, Graf KA, O’Brien EK, O’Brien SE, Marazita ML, Murray JC.  A targeted scan of fifteen regions for nonsyndromic cleft lip and palate in Filipino families.  Am J Med Genet, 125A(1);17-22, 2004.

Moreno LM, Arcos-Burgos M, Marazita ML, Krahn K, Maher BS, Cooper ME, Valencia C, Lidral AC.  Genetic analysis of candidate loci in nonsyndromic cleft lip families from Antioquia-Colombia and Ohio. American Journal of Medical Genetics, 125A:135-144, 2004.

Marazita ML, Murray JC, Lidral AC, Arcos-Bargos M, Cooper ME, Goldstein T, Maher BS, Daack-Hirsch S, Schultz R, Mansilla MA, Field LL, Liu Y-e, Prescott N, Malcolm S, Winter R, Ray A, Moreno L, Valencia C, Neiswanger K, Wyszynski DF, Bailey-Wilson JE, Albacha-Hejazi H, Beaty TH, McIntosh I, Hetmanski JB, Tuncbilek G, Edwards M, Harkin L, Scott R, Roddick L.   Meta-analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q and 2q.  American Journal of Human Genetics, 75:161-173, 2004.

Zubenko GS, Maher BS, Hughes HB, Zubenko WM, Stiffler JS, Marazita ML.  Genome-wide linkage survey for genetic loci that affect the risk of suicide attempts in families with recurrent, early-onset, major depression.  American Journal of Medical Genetics B (Neuropsychiatric Genetics) 129B:47-54, 2004.

Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomuceno B, Ribeiro L, Caprau D, Christensen K, Suzuki Y, Machida J, Natsume N, Yoshiura K, Vieira AR, Orioli IM, Castilla E, Moreno L, Arcos-Burgos M, Lidral AC, Field LL, Liu Y, Ray A, Goldstein TH, Schultz RD, Shi M, Johnson MK, Kondo S, Schutte B, Marazita ML, Murray JC. Interferon regulatory factor 6 (IRF6) gene variants confer risk for isolated cleft lip and palate.  New England Journal of Medicine 351(8):769-780, 2004.

Suzuki Y, Jezewski PA, Machida J, Watanabe Y, Shi M, Cooper M, Viet LT, Nguyen TDT, Hai H, Natsume N, Shimozato K, Marazita ML, Murray JC.  In a Vietnamese population, MSX1 variants contribute to cleft lip and palate.  Genetics in Medicine 6(3):117-125, 2004.

Weinberg SM, Scott NM, Neiswanger K, Brandon CA, Marazita ML.  Digital Three-dimensional photogrammetry: Evaluation of anthropometric precision and accuracy using a Genex 3D camera system.  Cleft Palate-Craniofacial Journal 41(5):507-518, 2004.

Ray AK, Marazita ML, Pathak R, Beever CL, Cooper ME, Goldstein T, Shaw DF, Field LL.  TP63 mutation and clefting modifier genes in an EEC syndrome family.  Clinical Genetics 66(3):217-222, 2004.

Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Curran ME, Silvestri JM, Marazita ML.  Sudden Infant Death Syndrome:  Case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development.  Pediatric Research 56(3):391-395, 2004.

Ding H, Wu X, Boström H, Kim I, Wong N, Tsoi B, O’Rouke M, Koh GY, Soriano P, Betsholtz C, Hart TC, Marazita ML, Field LL, Tam PPL, Nagy A.  A specific requirement for PDGF-C in palate formation and PDGFR-α signaling.  Nature Genetics 36:1111-1116, 2004.

Field LL, Ray A, Cooper ME, Goldstein T, Neiswanger K, Shaw DF, Marazita ML. Genome-scan for loci involved in nonsyndromic cleft lip with or without cleft palate in families from West Bengal, India.  American Journal of Medical Genetics 130A:265-271, 2004.

Neiswanger K, Cooper ME, Liu Y-e, Hu D-n, Melnick M, Weinberg SM, Marazita ML.  Bilateral asymmetry in Chinese families with cleft lip with or without cleft palate.  Cleft Palate-Craniofacial Journal, 42:192-196, 2005.

Weinberg SM, Scott NM, Neiswanger K, Marazita ML. Intraobserver error associated with measurements of the hand. Am J Human Biology 17(3):368-371, 2005.

Marazita ML, Murray JC, Zucchero T.  Response to Drs. Herring and Grundmann.  Genet Med 7(3):209-210, 2005.

Vieira AR, Murray JC, Trembath D, Orioli IM, Castilla EE, Cooper ME, Marazita ML, Lennon-Graham FL, Speer M.  Studies of reduced folate carrier 1 (RFC1) A80G and 5,10-Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with neural tube and orofacial cleft defects.  American Journal of Medical Genetics 135A:220-223, 2005.

Hart TC, Marazita ML and the Research, Science and Therapy Committee of the American Academy of Periodontology.  Implications of genetic technology for the management of periodontal diseases.  J of Periodontology 76(5):850-857, 2005

Scott NM, Weinberg SM, Daack-Hirsch S, Neiswanger K, O’Brien S, Nepomuceno B, Murray JC, Marazita ML.  Dermatoglyphic pattern types in nonsyndromic cleft lip with or without cleft palate (CL/P) and their relatives in the Philippines.  Cleft Palate-Craniofacial Journal 42:362-366, 2005

Scott NM, Weinberg SM, Neiswanger K, Brandon CA, Marazita ML.  Hair whorls and handedness: Informative phenotypic markers in nonsyndromic cleft lip with or without cleft palate (NS CL/P) cases and their unaffected relatives.  American Journal of Medical Genetics (A) 136A:158-161, 2005.

Slayton RL, Cooper ME, Marazita ML.   Tuftelin, Mutans Streptococci and dental caries susceptibilityJournal of Dental Research, 84(8):711-714, 2005.

Weese-Mayer DE, Berry-Kravitz EM, Marazita ML.  In pursuit (and discovery) of a genetic basis for Congenital Central Hypoventilation Syndrome.  Respiration Physiology and Neurobiology 149(1-3):73-82, 2005 Jul 28 [Epub ahead of print]

Scott NM, Weinberg SM, Neiswanger K, Brandon CA, Daack-Hirsch S, Murray JC, Liu Y-e, Marazita ML.  Dermatoglyphic phenotypic heterogeneity among individuals with nonsyndromic cleft lip with or without cleft palate (CL/P) and their unaffected relatives in China and the Philippines.  Human Biology 77(2):257-266, 2005.

Vieira AR, Avila JR, Daack-Hirsch, Dragan E, Félix TM, Rahimov F, Harrington J, Schultz RR, Watanabe Y, Johnson M, Fang J, O’Brien SE, Orioli IM, Castilla EE, FitzPatrick DR, Jiang R, Marazita ML, Murray JC. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. Public Library of Science Genetics 2005 Dec2;1(6):e64, 2005

Cooper ME, Goldstein GH, Maher BS, Marazita ML.  Identifying genomic regions for fine-mapping using Genome Scan Meta-Analysis (GSMA) to identify the Minimum Regions of Maximum Significance (MRMS) across populations. BioMed Central Genetics, 6(Suppl 1):S42 (30 December 2005), 2005.

Brock GN, Maher BS, Goldstein GH, Cooper ME, Marazita ML.  Methods for Detecting Gene-Gene Interaction in Multiplex Extended Pedigrees.  BioMed Central Genetics, 6(Suppl 1):S144 (30 December 2005), 2005

Todd ES, Weinberg SM, Berry-Kravis EM, Silvestri JM, Kenny AS, Rand CM, Zhou L, Maher BS, Marazita ML, Weese-Mayer DE.  Facial phenotype in children and young adults with PHOX2B-determined Congenital Central Hypoventilation Syndrome:  Quantitative pattern of dysmorphology.  Pediatric Research 59(1):39-45, 2006 (Epub 2005, Dec 2).

Weinberg SM, Neiswanger K, Martin RA, Mooney MP, Kane AA, Wenger SL, Losee J, Deleyiannis F, Ma L, de Salamanca JE, Czeizel AE, Marazita ML.  The Pittsburgh Oral-Facial Cleft (POFC) Study: Expanding the Cleft Phenotype. Background and Justification.  Cleft Palate-Craniofacial Journal 43:7-20, 2006.

Mansilla MA, Cooper ME, Goldstein T, Castilla EE, Camelo JS, Marazita ML, Murray JC.  Contributions of PTCH gene variants to isolated cleft lip and palate. Cleft Palate-Craniofacial Journal 43(1):21-29, 2006

Weinberg SM, Maher BS, Marazita ML. Parental craniofacial morphology in cleft lip with or without cleft palate as determined by cephalometry: a meta-analysis. Orthod Craniofacial Res 9:18-30, 2006

Neiswanger K, Deleyiannis FWB, Avila JR, Cooper ME, Brandon CA, Vieira AR, Noorchashm N, Weinberg SM, Bardi KM, Murray JC, Marazita ML. Candidate genes for oral-facial clefts in Guatemalan families. Annals of Plastic Surgery 56(5):518-521, 2006.

Maher BS, Marazita ML, Rand C, Zhou L, Berry-Kravis EM, Weese-Mayer DE.  3’ UTR Polymorphism of the Serotonin Transporter Gene and Sudden Infant Death Syndrome:  Haplotype Analysis. American Journal of  Medical Genetics A 140:1447-1452, 2006

Rand CM, Weese-Mayer DE, Mahaer BS, Zhou L, Marazita ML, Berry-Kravis EM.  Nicotine Metabolizing Genes GSTT1 and CYP1A1 in Sudden Infant Death Syndrome.  American Journal of Medical Genetics A 140:1453-1457, 2006

Weinberg SM, Naidoo S, Govier DP, Martin RA, Kane AA, Marazita ML.  Anthropometric precision and accuracy of digital three-dimensional photogrammetry: Comparing the GENEX and 3DMD imaging systems to one another and to direct anthropometry.  Journal of Craniofacial Surgery 17:477-483, 2006

Todd ES, Scott NM, Weese-Mayer DE.,Weinberg SM, Berry-Kravis EM, Silvestri JM, Kenny AS, Hauptman SA, Zhou L, Marazita ML. Characterization of dermatoglyphic pattern types in children and young adults with Congenital Central Hypoventilation Syndrome (CCHS).  Pediatrics 118:e408-414, 2006

Rand CM, Weese-Mayer DE, Zhou L, Maher BS, Cooper ME, Marazita ML, Berry-Kravis EM.  Sudden Infant Death Syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene.  American Journal of Medical Genetics A 140A:1687-1691, 2006.

Cooper ME, Ratay JS, Marazita ML. Asian oral-facial cleft birth prevalence. Cleft Palate-Craniofacial Journal 43(5):580-589, 2006

Weinberg SM, Jenkins EA, Marazita ML, Maher BS.  Minor physical anomalies in schizophrenia: a meta-analysis. Schizophrenia Research 89:72-85 [Oct 30, 2006; Epub ahead of print], 2007

Jenkins EA, Maher BS, Marazita ML, Tarter RE, Ganger JB, Watt-Morse M, Vanyukov MM. Pittsburgh Registry of Infant Multiplets (PRIM): An Update. Twin Research and Human Genetics 9(6):1006-1008, 2006

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

IN PRESS:

Vieira AR, Murray JC, Trembath D, Orioli IM, Castilla EE, Cooper ME, Marazita ML, Lennon-Graham FL, Speer M.  Studies of reduced folate carrier 1 (RFC1) A80G and 5,10-Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with neural tube and orofacial cleft defects,  In press, American Journal of Medical Genetics, 2007.

Weese-Mayer D, Ackerman M, Marazita ML, Berry-Kravis, E.  SIDS: review of implicated genetic factors.  In press, American Journal of Medical Genetics, 2007

Marazita, ML.  Subclinical Features in Nonsyndromic Cleft Lip with or without Cleft Palate (CL/P): Review of the Evidence that Subepithelial Orbicularis Oris Muscle Defects are Part of an Expanded Phenotype for CL/P. In press, Orthodontics and Craniofacial Research, 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.  In press, American Journal of Medical Genetics, 2007