A case-control study of nonsyndromic oral clefts in Maryland

T. H. Beaty, H. Wang, J. B. Hetmanski, Y. T. Fan, J. S. Zeiger, K. Y. Liang, Y. F. Chiu, C. A. Vanderkolk, K. C. Seifert, E. A. Wulfsberg, Gerald Raymond, S. R. Panny, I. McIntosh

Research output: Contribution to journalArticle

92 Citations (Scopus)

Abstract

PURPOSE: Isolated, nonsyndromic oral clefts cases (n = 171) and unaffected controls (n = 182) were used to identify both genetic and environmental risk factors. METHODS: Infants born in Maryland between 1992 to 1998 with an isolated, nonsyndromic oral cleft [cleft lip (CL), cleft lip and palate (CLP), or cleft palate (CP)] were recruited and exposure plus family history data were collected. Controls were unaffected infants. DNA was collected from all cases and their parents, plus controls. RESULTS: No statistically significant association was found between any of the following: maternal smoking, vitamin use, urinary tract infection, or recreational drug use in either univariate analysis or after adjusting for maternal age and education. More control mothers reported alcohol use during the critical time period of pregnancy (one month before conception through the first trimester) as compared to case mothers. There was a 10-fold increase in risk to siblings of cases as compared to siblings of controls. Markers at four candidate genes were examined: transforming growth factor α (TGFα), transforming growth factor β3 (TGFβ3), MSX1, and BCL3. Only MSX1 showed significant differences in allele frequencies between CP cases and controls. MSX1 also showed significant evidence of linkage disequilibrium with a susceptibility gene controlling risk for CP. CONCLUSION: Most environmental risk factors examined here gave little evidence of association with risk to isolated, nonsyndromic oral clefts, although any alcohol consumption seemed protective. MSX1 showed evidence of linkage disequilibrium in both case-control and case-parent trio analysis.

Original languageEnglish (US)
Pages (from-to)434-442
Number of pages9
JournalAnnals of Epidemiology
Volume11
Issue number6
DOIs
StatePublished - Jul 26 2001

Fingerprint

Cleft Palate
Case-Control Studies
Cleft Lip
Linkage Disequilibrium
Mothers
Transforming Growth Factors
Siblings
Maternal Age
Street Drugs
First Pregnancy Trimester
Gene Frequency
Urinary Tract Infections
Vitamins
Alcohol Drinking
Genes
Parents
Smoking
Alcohols
Education
Pregnancy

All Science Journal Classification (ASJC) codes

  • Epidemiology

Cite this

Beaty, T. H., Wang, H., Hetmanski, J. B., Fan, Y. T., Zeiger, J. S., Liang, K. Y., ... McIntosh, I. (2001). A case-control study of nonsyndromic oral clefts in Maryland. Annals of Epidemiology, 11(6), 434-442. https://doi.org/10.1016/S1047-2797(01)00222-8
Beaty, T. H. ; Wang, H. ; Hetmanski, J. B. ; Fan, Y. T. ; Zeiger, J. S. ; Liang, K. Y. ; Chiu, Y. F. ; Vanderkolk, C. A. ; Seifert, K. C. ; Wulfsberg, E. A. ; Raymond, Gerald ; Panny, S. R. ; McIntosh, I. / A case-control study of nonsyndromic oral clefts in Maryland. In: Annals of Epidemiology. 2001 ; Vol. 11, No. 6. pp. 434-442.
@article{252f7b6d8f904fc9b15bebe4f5a16cdf,
title = "A case-control study of nonsyndromic oral clefts in Maryland",
abstract = "PURPOSE: Isolated, nonsyndromic oral clefts cases (n = 171) and unaffected controls (n = 182) were used to identify both genetic and environmental risk factors. METHODS: Infants born in Maryland between 1992 to 1998 with an isolated, nonsyndromic oral cleft [cleft lip (CL), cleft lip and palate (CLP), or cleft palate (CP)] were recruited and exposure plus family history data were collected. Controls were unaffected infants. DNA was collected from all cases and their parents, plus controls. RESULTS: No statistically significant association was found between any of the following: maternal smoking, vitamin use, urinary tract infection, or recreational drug use in either univariate analysis or after adjusting for maternal age and education. More control mothers reported alcohol use during the critical time period of pregnancy (one month before conception through the first trimester) as compared to case mothers. There was a 10-fold increase in risk to siblings of cases as compared to siblings of controls. Markers at four candidate genes were examined: transforming growth factor α (TGFα), transforming growth factor β3 (TGFβ3), MSX1, and BCL3. Only MSX1 showed significant differences in allele frequencies between CP cases and controls. MSX1 also showed significant evidence of linkage disequilibrium with a susceptibility gene controlling risk for CP. CONCLUSION: Most environmental risk factors examined here gave little evidence of association with risk to isolated, nonsyndromic oral clefts, although any alcohol consumption seemed protective. MSX1 showed evidence of linkage disequilibrium in both case-control and case-parent trio analysis.",
author = "Beaty, {T. H.} and H. Wang and Hetmanski, {J. B.} and Fan, {Y. T.} and Zeiger, {J. S.} and Liang, {K. Y.} and Chiu, {Y. F.} and Vanderkolk, {C. A.} and Seifert, {K. C.} and Wulfsberg, {E. A.} and Gerald Raymond and Panny, {S. R.} and I. McIntosh",
year = "2001",
month = "7",
day = "26",
doi = "10.1016/S1047-2797(01)00222-8",
language = "English (US)",
volume = "11",
pages = "434--442",
journal = "Annals of Epidemiology",
issn = "1047-2797",
publisher = "Elsevier Inc.",
number = "6",

}

Beaty, TH, Wang, H, Hetmanski, JB, Fan, YT, Zeiger, JS, Liang, KY, Chiu, YF, Vanderkolk, CA, Seifert, KC, Wulfsberg, EA, Raymond, G, Panny, SR & McIntosh, I 2001, 'A case-control study of nonsyndromic oral clefts in Maryland', Annals of Epidemiology, vol. 11, no. 6, pp. 434-442. https://doi.org/10.1016/S1047-2797(01)00222-8

A case-control study of nonsyndromic oral clefts in Maryland. / Beaty, T. H.; Wang, H.; Hetmanski, J. B.; Fan, Y. T.; Zeiger, J. S.; Liang, K. Y.; Chiu, Y. F.; Vanderkolk, C. A.; Seifert, K. C.; Wulfsberg, E. A.; Raymond, Gerald; Panny, S. R.; McIntosh, I.

In: Annals of Epidemiology, Vol. 11, No. 6, 26.07.2001, p. 434-442.

Research output: Contribution to journalArticle

TY - JOUR

T1 - A case-control study of nonsyndromic oral clefts in Maryland

AU - Beaty, T. H.

AU - Wang, H.

AU - Hetmanski, J. B.

AU - Fan, Y. T.

AU - Zeiger, J. S.

AU - Liang, K. Y.

AU - Chiu, Y. F.

AU - Vanderkolk, C. A.

AU - Seifert, K. C.

AU - Wulfsberg, E. A.

AU - Raymond, Gerald

AU - Panny, S. R.

AU - McIntosh, I.

PY - 2001/7/26

Y1 - 2001/7/26

N2 - PURPOSE: Isolated, nonsyndromic oral clefts cases (n = 171) and unaffected controls (n = 182) were used to identify both genetic and environmental risk factors. METHODS: Infants born in Maryland between 1992 to 1998 with an isolated, nonsyndromic oral cleft [cleft lip (CL), cleft lip and palate (CLP), or cleft palate (CP)] were recruited and exposure plus family history data were collected. Controls were unaffected infants. DNA was collected from all cases and their parents, plus controls. RESULTS: No statistically significant association was found between any of the following: maternal smoking, vitamin use, urinary tract infection, or recreational drug use in either univariate analysis or after adjusting for maternal age and education. More control mothers reported alcohol use during the critical time period of pregnancy (one month before conception through the first trimester) as compared to case mothers. There was a 10-fold increase in risk to siblings of cases as compared to siblings of controls. Markers at four candidate genes were examined: transforming growth factor α (TGFα), transforming growth factor β3 (TGFβ3), MSX1, and BCL3. Only MSX1 showed significant differences in allele frequencies between CP cases and controls. MSX1 also showed significant evidence of linkage disequilibrium with a susceptibility gene controlling risk for CP. CONCLUSION: Most environmental risk factors examined here gave little evidence of association with risk to isolated, nonsyndromic oral clefts, although any alcohol consumption seemed protective. MSX1 showed evidence of linkage disequilibrium in both case-control and case-parent trio analysis.

AB - PURPOSE: Isolated, nonsyndromic oral clefts cases (n = 171) and unaffected controls (n = 182) were used to identify both genetic and environmental risk factors. METHODS: Infants born in Maryland between 1992 to 1998 with an isolated, nonsyndromic oral cleft [cleft lip (CL), cleft lip and palate (CLP), or cleft palate (CP)] were recruited and exposure plus family history data were collected. Controls were unaffected infants. DNA was collected from all cases and their parents, plus controls. RESULTS: No statistically significant association was found between any of the following: maternal smoking, vitamin use, urinary tract infection, or recreational drug use in either univariate analysis or after adjusting for maternal age and education. More control mothers reported alcohol use during the critical time period of pregnancy (one month before conception through the first trimester) as compared to case mothers. There was a 10-fold increase in risk to siblings of cases as compared to siblings of controls. Markers at four candidate genes were examined: transforming growth factor α (TGFα), transforming growth factor β3 (TGFβ3), MSX1, and BCL3. Only MSX1 showed significant differences in allele frequencies between CP cases and controls. MSX1 also showed significant evidence of linkage disequilibrium with a susceptibility gene controlling risk for CP. CONCLUSION: Most environmental risk factors examined here gave little evidence of association with risk to isolated, nonsyndromic oral clefts, although any alcohol consumption seemed protective. MSX1 showed evidence of linkage disequilibrium in both case-control and case-parent trio analysis.

UR - http://www.scopus.com/inward/record.url?scp=0034933328&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0034933328&partnerID=8YFLogxK

U2 - 10.1016/S1047-2797(01)00222-8

DO - 10.1016/S1047-2797(01)00222-8

M3 - Article

C2 - 11454503

AN - SCOPUS:0034933328

VL - 11

SP - 434

EP - 442

JO - Annals of Epidemiology

JF - Annals of Epidemiology

SN - 1047-2797

IS - 6

ER -

Beaty TH, Wang H, Hetmanski JB, Fan YT, Zeiger JS, Liang KY et al. A case-control study of nonsyndromic oral clefts in Maryland. Annals of Epidemiology. 2001 Jul 26;11(6):434-442. https://doi.org/10.1016/S1047-2797(01)00222-8