Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations.

Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. Abstract Text:

Ji Wan Park,Iain McIntosh,Jacqueline B Hetmanski,Ethylin Wang Jabs,Craig A Vander Kolk,Yah-Huei Wu-Chou,Philip K Chen,Samuel S Chong,Vincent Yeow,Sun Ha Jee,Beyoung Yun Park,M Daniele Fallin,Roxann Ingersoll,Alan F Scott,Terri H Beaty,

PURPOSE: The interferon regulatory factor 6 (IRF6), the gene that causes van der Woude syndrome has been shown to be associated with nonsyndromic cleft lip with or without palate in several populations. This study aimed to confirm the contribution of IRF6 to cleft lip with or without palate risk in additional Asian populations. METHODS: A set of 13 single nucleotide polymorphisms was tested for association with cleft lip with or without palate in 77 European American, 146 Taiwanese, 34 Singaporean, and 40 Korean case-parent trios using both the transmission disequilibrium test and conditional logistic regression models. RESULTS: Evidence of linkage and association was observed among all four populations; and two specific haplotypes [GC composed of rs2235373-rs2235371 (p.V274I) and AAG of rs599021-rs2235373-rs595918] showed the most significant over- and undertransmission among Taiwanese cases (P=9x10(-6) and P=5x10(-6), respectively). The AGC/CGC diplotype composed of rs599021-rs2235373-rs2013162 showed almost a 7-fold increase in risk among the Taiwanese sample (P<10(-3)). These results confirmed the contribution of this gene to susceptibility of oral clefts across different populations; however, the specific single nucleotide polymorphisms showing statistical significance differed among ethnic groups. CONCLUSION: The high-risk genotypes and diplotypes identified here may provide a better understanding of the etiological role of this gene in oral clefts and potential options for genetic counseling.

Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. Publishing Authors By Initials

JW Park,I McIntosh,JB Hetmanski,EW Jabs,CA Vander Kolk,YH Wu-Chou,PK Chen,SS Chong,V Yeow,SH Jee,BY Park,MD Fallin,R Ingersoll,AF Scott,TH Beaty,

For similar persons: population groups research abstracts see: persons: population groups research

PUBMED ID PMID:

MEDLINE DATE:

Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Genetics in medicine : official journal of the Ame

VOLUME: 9

Page Numbers: 219-27

Journal Abbreviation:

ISSN: 1098-3600

DAY: 3

MONTH: Apr

YEAR: 2007

Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 9815831

Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. Keywords Mesh Terms:

KEYWORDS: Population Groups

MESH TERMS: genetics

Chemical & Substance for Abstract: Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. Information

Substance Name: Interferon Regulatory Factors

Registry Number: 0

Grant and Affiliation Information for Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations.

AFFILIATION: Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland 21205, USA, and Department of Medical Research and Craniofacial Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.

Country: United States

AGENCY: United States NIDCR

GRANT: R01-DE014581

ACRONYM: DE

MEDLINETA: Genet Med

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations Related Publications

• Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations.
• Complete cDNA and deduced amino acid sequence of the chaperonin containing T-complex polypeptide 1 (CCT) delta subunit from Aedes triseriatus mosquitoes.
• Creative nursing so far: a history.
• Dengue virus circulation and evolution in Mexico: a phylogenetic perspective.
• Dengue virus type 2: replication and tropisms in orally infected Aedes aegypti mosquitoes.
• Diagnosis of pulmonary contusions and a bronchial laceration after a fall.
• Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations.
• Effect of La Crosse virus infection on insemination rates in female Aedes triseriatus (Diptera: Culicidae).
• Entomological studies along the Colorado Front Range during a period of intense West Nile virus activity.
• Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations.
• Family-based linkage disequilibrium tests using general pedigrees.
• Gastric perforation: a complication of inadvertent esophageal intubation.
• Genetic analysis workshop IV: summary of two-point and multipoint mapping of 11p.
• Incorporation of covariates into multipoint linkage disequilibrium mapping in case-control studies.
• Multipoint mapping: determining the order of the beta-globin, ADJ, insulin and c-Ha-ras-1 loci.
• Progressive valgus deformity after curettage of benign lesions of the proximal tibia.
• Protein and antibody in lavage fluid of guinea pigs with Legionella pneumophila pneumonia.
• Rapid field immunoassay for detecting antibody to sin nombre virus in deer mice.
• Thoughts on health-care reform: ignored global considerations.
• Transphyseal anterior cruciate ligament reconstruction using mesenchymal stem cells.
• Unusual doesn't mean unusable: why information about uncommon injuries or conditions is important.