craniofacial anomalies

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Craniofacial anomalies. HuGENet NETWORK OF NETWORKS WORKSHOP October 2005. Julian Little Canada Research Chair in Human Genome Epidemiology Department of Epidemiology & Community Medicine University of Ottawa. Origins. WHO Human Genetics Programme, 2000 Financial support from NIDCR (US) - PowerPoint PPT Presentation

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  • Craniofacial anomaliesJulian LittleCanada Research Chair in Human Genome EpidemiologyDepartment of Epidemiology & Community MedicineUniversity of Ottawa

    HuGENet NETWORK OF NETWORKS WORKSHOP

    October 2005

  • OriginsWHO Human Genetics Programme, 2000Financial support from NIDCR (US)Five-year project designed to take forward international strategy on craniofacial anomalies

  • Objectives of WHO project

    to develop an international network for consensus building, planning and development for international collaborative biomedical, epidemiological and behavioural studies in the core areas of craniofacial anomalies researchto create a directory of research resources in craniofacial anomalies. to create the International Database on Craniofacial Anomalies (CFA)

  • Core areas

    genetic basis of CFA gene-environment interactions involved in CFA prevention of CFA optimal treatment of CFA

  • Consensus meetingsNov 2000 concurrent workshops on (1) genetic basis (2) g-e interaction (3) treatmentMay 2001 preventionDec 2001 global registry

  • 20032002

  • Consensus meetingsNov 2000 concurrent workshops on (1) genetic basis (2) g-e interaction (3) treatmentMay 2001 preventionDec 2001 global registryDec 2004 progress and future strategies________

  • Reported investigations on gene-environment interaction in aetiology of oral clefts

    Variants of

    Maternal exposure

    Smoking

    Vitamin

    Alcohol

    Occup

    exp

    Medication

    Supps

    A

    Folate/FA

    TGF

    8

    2

    1

    2

    TGF3

    4

    2

    MSX1

    3

    2

    BCL3

    1

    CYP1A1

    1

    EPHX1

    1

    GSTM1

    1

    1

    GSTT1

    1

    1

    NAT1

    1

    1

    1

    NAT2

    2

    1

    1

    RARA

    1

    1

    MTHFR

    2

    2

    RFC

    1

  • Gene-environment interaction and oral clefts: data and sample collections

    Area, period

    (ref)

    Design

    Genotyping

    of

    CL(P)

    n

    CP

    n

    Variants

    reported

    Maternal

    exposures

    reported

    Denmark, 1991-4

    (Christensen et al., 1999;

    Mitchell et al., 2001, 2003)

    Case-

    control

    Infant

    233

    83

    TGF

    TGF3

    MSX1

    RARA

    Smoking

    Alcohol

    Vitamins

    Liver

    Netherlands, 1997-2000

    (van Rooij et al., 2001, 2002,

    2003)

    Case-

    control

    Infant &

    maternal

    146

    n.s.

    CYP1A1

    GSTT1

    NAT2

    MTHFR

    Smoking

    Medications

    FA

    Folate

    Norway, 1996-8

    (Jugessur et al., 2003a,b)

    Case-

    parent

    trio

    Infant,

    maternal,

    paternal

    173

    88

    TGF

    MTHFR

    Smoking

    Alcohol

    Vitamins

    FA

    USA, California, 1987-9

    (Shaw et al., 1996, 1998a,b,

    1999, 2003a, b; Lammer

    et al., 2004a,b; Hartsfield

    et al., 2001)

    Case-

    control

    Infant

    447

    215

    TGF

    EPHX1

    GSTM1

    GSTT1

    NAT1/2

    MHFR

    RFC

    Smoking (& P)

    Vitamins

    13 occupational

    Chemical

    groups

    USA, Iowa, 1987-94

    (Romitti et al., 1999)

    Case-

    control

    Infant

    154

    60

    TGF

    TGF3

    MSX1

    Smoking

    Alcohol

    USA, Maryland, 1984-92

    (Hwang et al., 1995; Beaty

    et al., 1997, 2002; Maestri

    et al., 1997)

    Case-

    control &

    trio

    Infant,

    maternal,

    paternal

    186

    83

    TGF

    TGF3

    MSX1

    BCL1

    Smoking

  • Identifying teams

    List developed from WHO reports and literature searchesAsked those who attended WHO meetings (1) about concept (2) to review list and extend if possibleContact additional teams identified

  • Teamswith established data and sample collections with ongoing data and sample collectionsplanning to establish data and sample collections

  • Numbers of teams

    WHO regionEstablishedOngoingPlannedMulticountry in >1 region2 (trios and other familial)3 (trios and other familial)-AFR--1AMR8 (cc & trio)1 multicountry; 1 multistate; 12EMR--1EUR1 multicountry (trio);9 (cc & trio)1 cohortSEAR4 (cc & trio)-3

  • N of cases from cc studies; trios; samples; (studies)

    WHO regionEstablishedOngoingPlanned>1? + > 2000 trios3 (trios and other familial)-AFR--(1)AMR1343 cc (5); 324 trios (3); >7000 samples (1) 1 multicountry; 1 multistate 2100cc but bio samp from 600 only;(2)EMR--(1)EURmulticountry 1169 trios; 1227 cc (9); 651 trios (4)1 cohortSEAR259 cc (3) & 213 trios (2)-(3)

  • Co-ordinationOttawaDundee (Peter Mossey)Iowa (Jeff Murray)

  • Funding

  • Other issuesDifferent designsSamplesGovernanceFurther analyses possible?Outside country?Elsewhere within country?Only in own centre?

    May be overlap between cc and trio counts. Sometimes more controls than cases

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