BRCA1 和 BRCA2 基因突变与非综合征性唇腭裂。
BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate.
机构信息
Center for Craniofacial Research, UTHealth School of Dentistry at Houston, Houston TX, USA.
Department of Pediatrics, UTHealth McGovern Medical School, Houston TX, USA.
出版信息
Birth Defects Res. 2018 Jul 17;110(12):1043-1048. doi: 10.1002/bdr2.1346. Epub 2018 Jun 19.
BACKGROUND
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a debilitating condition that not only affects the individual, but the entire family. The purpose of this study was to investigate the association of BRCA1 and BRCA2 genes with NSCL/P.
METHODS
Twelve polymorphisms in/nearby BRCA1 and BRCA2 were genotyped using Taqman chemistry. Our data set consisted of 3,473 individuals including 2,191 nonHispanic white (NHW) individuals (from 151 multiplex and 348 simplex families) and 1,282 Hispanic individuals (from 92 multiplex and 216 simplex families). Data analysis was performed using Family-Based Association Test (FBAT), stratified by ethnicity and family history of NSCL/P.
RESULTS
Nominal associations were found between NSCL/P and BRCA1 in Hispanics and BRCA2 in NHW and Hispanics (p < .05). Significant haplotype associations were found between NSCL/P and both BRCA1 and BRCA2 (p ≤ .004).
CONCLUSIONS
Our results suggest a modest association between BRCA1 and BRCA2 and NSCL/P. Further studies in additional populations and functional studies are needed to elucidate the role of these genes in developmental processes and signaling pathways contributing to NSCL/P.
背景
非综合征性唇裂伴或不伴腭裂（NSCL/P）是一种使人衰弱的疾病，不仅影响个体，还影响整个家庭。本研究的目的是调查 BRCA1 和 BRCA2 基因与 NSCL/P 的关联。
方法
使用 Taqman 化学法对 BRCA1 和 BRCA2 中的 12 个多态性进行基因分型。我们的数据集中包括 3473 个人，其中 2191 名非西班牙裔白人（NHW）个体（来自 151 个多态性和 348 个单纯性家庭）和 1282 名西班牙裔个体（来自 92 个多态性和 216 个单纯性家庭）。数据分析采用基于家庭的关联检验（FBAT），按种族和 NSCL/P 的家族史进行分层。
结果
在西班牙裔人群中发现 NSCL/P 与 BRCA1 之间存在名义关联，在 NHW 和西班牙裔人群中发现 BRCA2 与 NSCL/P 之间存在名义关联（p<.05）。在 NSCL/P 与 BRCA1 和 BRCA2 之间发现了显著的单倍型关联（p≤.004）。
结论
我们的结果表明 BRCA1 和 BRCA2 与 NSCL/P 之间存在适度的关联。需要在其他人群中进行进一步的研究和功能研究，以阐明这些基因在导致 NSCL/P 的发育过程和信号通路中的作用。
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