Replication of 13q31.1 association in nonsyndromic cleft lip with cleft palate in Europeans

American Journal of Medical Genetics. Part a
Zhong-Lin JiaJeffrey Murray

Abstract

Genome wide association (GWA) studies have successfully identified at least a dozen loci associated with orofacial clefts. However, these signals may be unique to specific populations and require replication to validate and extend findings as a prelude to etiologic SNP discovery. We attempted to replicate the findings of a recent meta-analysis of orofacial cleft GWA studies using four different ancestral populations. We studied 946 pedigrees (3,436 persons) of European (US white and Danish) and Asian (Japanese and Mongolian) origin. We genotyped six SNPs that represented the most significant P-value associations identified in published studies: rs742071 (1p36), rs7590268 (2p21), rs7632427 (3p11.1), rs12543318 (8q21.3), rs8001641 (13q31.1), and rs7179658 (15q22.2). We directly sequenced three non-coding conserved regions 200 kb downstream of SPRY2 in 713 cases, 438 controls, and 485 trios from the US, Mongolia, and the Philippines. We found rs8001641 to be significantly associated with nonsyndromic cleft lip with cleft palate (NSCLP) in Europeans (P-value = 4 × 10(-5), ORtransmission = 1.86 with 95% confidence interval: 1.38-2.52). We also found several novel sequence variants in the conserved regions in Asian and European sampl...Continue Reading

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Citations

Jun 19, 2015·Human Molecular Genetics·Stephen R F Twigg, Andrew O M Wilkie
Sep 9, 2016·American Journal of Medical Genetics. Part a·Nicholas J MariniGary M Shaw
Nov 11, 2017·Genetic Epidemiology·Jenna C CarlsonElizabeth J Leslie
Apr 24, 2018·Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology·Bi-He ZhangZhong-Lin Jia
Aug 2, 2017·Birth Defects Research·Jenna C CarlsonElizabeth J Leslie
May 8, 2019·American Journal of Medical Genetics. Part a·Nicholas J MariniGary M Shaw
Jun 8, 2019·Oral Diseases·Agnieszka GaczkowskaAdrianna Mostowska
Oct 3, 2018·Journal of Dental Research·R ZhouT H Beaty
Feb 17, 2019·International Journal of Environmental Research and Public Health·Ren ZhouTerri H Beaty
Nov 9, 2018·Frontiers in Genetics·Caryl Wilson-NagraniLavinia Paternoster

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