Description
Presentation Blocks: 03-22-2018 - Thursday - 03:45 PM - 05:00 PM

Title: Association of IFT88 Polymorphisms in Nonsyndromic Multiplex Cleft Lip/Palate Families

Authors:

Amanda Barba, Center for Craniofacial Research, School of Dentistry, University of Texas Health Science Center at Houston, Houston, Texas, USA
Christian Urbina, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA
Lorena Maili, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA
Brett Chiquet, Center for Craniofacial Research, School of Dentistry, University of Texas Health Science Center at Houston, Houston, Texas, USA
Jacqueline Hecht, Center for Craniofacial Research, School of Dentistry, University of Texas Health Science Center at Houston, Houston, Texas, USA
Ariadne Letra (Presenter)
Center for Craniofacial Research, School of Dentistry, University of Texas Health Science Center at Houston, Houston, Texas, USA

Abstract:

Objectives: To investigate the association of IFT88 gene variants with NSCL/P in a large family dataset consisting of non-Hispanic white (NHW) and Hispanic families.

Methods: Eight SNPs in/nearby the IFT88 gene were genotyped in 481 NHW families and 301 Hispanic NSCL/P families. Genotyping was performed using TaqMan® chemistry in a ViiA7 sequence detection system. Analyses were performed for all families stratified by ethnicity, and then by ethnicity and family history of NSCL/P, using the Family Based Association Test (FBAT) and Haplotype Based Association Text (HBAT). Bonferroni correction was used to adjust for multiple testing and P-values ≤ 0.006 were considered statistically significant.

Results: Significant association was found between IFT88 rs9509311 and rs2497490 and NSCL/P in NHW all families (P=0.004 and 0.005, respectively), while nominal associations were found for rs7998361 and rs9509307 (P<0.05). Additionally, IFT88 marker haplotypes were also significantly associated with NSCL/P in the NHW all families, and in NHW multiplex families (P≤0.006). No association was found between SNPs in IFT88 and NSCL/P in the Hispanic dataset.

Conclusions: Our results suggest that variations in IFT88 may contribute to NSCL/P risk, particularly in multiplex families from a non-Hispanic white population.

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