State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & Dept. of cleft lip and palate, West China Hospital of Stomatology, Sichuan University, Chengdu, China.
Cleft Palate Craniofac J. 2024 Aug;61(8):1275-1282. doi: 10.1177/10556656231163398. Epub 2023 Mar 15.
Paired box 7 () has been considered as a candidate gene for non-syndromic cleft lip with or without palate (NSCL/P). However, there is no research for the XXX, and previous studies concentrated on limited variants. This study aimed to conduct sufficiently dense and powerful scans of variants at and explored the roles of variants at in NSCL/P among the XXX.
Targeted region sequencing was performed to thoroughly screen variations, followed by a two-phase association analysis. 159 NSCL/P cases and 542 controls were analyzed in phase 1. Then in phase 2, the validation study was performed using 1626 cases and 2255 controls. We also explored the roles of variants at gene in NSCL/P subtypes. Additionally, indirect associations were found by calculating LD and haplotypes.
The study was conducted in XXX.
PATIENTS, PARTICIPANTS: 159 NSCL/P cases and 542 controls were analyzed in phase 1. Then in phase 2, the validation study was performed using 1626 cases and 2255 controls.
Blood samples were collected.
To explore the association analysis between variants at and NSCL/P in XXX.
The results showed that rs2236810, rs114882979 and rs2236804 were significantly associated with NSCL/P, which were predicted to have regulatory functions. Besides, variants at function differently in the NSCL/P subtypes. We also discovered a missense variant, NM_001135254 p.A369 V (NM_002584.2:c.1106C > T).
In summary, we confirmed 3 SNPs at were significantly associated with NSCL/P in XXX and identified a missense variant, NM_001135254 p.A369 V (NM_002584.2:c.1106C > T).
配对盒基因 7 () 被认为是伴有或不伴有腭裂的非综合征性唇裂（NSCL/P）的候选基因。然而，目前还没有关于 XXX 的研究，以前的研究集中在有限的变体上。本研究旨在对 XXX 中 基因的变体进行充分密集和强大的扫描，并探讨变体在 NSCL/P 中的作用。
进行靶向区域测序以彻底筛选变异，然后进行两阶段关联分析。在第 1 阶段分析了 159 例 NSCL/P 病例和 542 例对照。然后在第 2 阶段，使用 1626 例病例和 2255 例对照进行验证研究。我们还探讨了变体在 NSCL/P 亚型中的作用。此外，通过计算 LD 和单倍型发现了间接关联。
研究在 XXX 进行。
患者/参与者：在第 1 阶段分析了 159 例 NSCL/P 病例和 542 例对照。然后在第 2 阶段，使用 1626 例病例和 2255 例对照进行验证研究。
采集血样。
探讨 XXX 中 基因变异与 NSCL/P 的关联分析。
结果表明，rs2236810、rs114882979 和 rs2236804 与 NSCL/P 显著相关，这些变体被预测具有调节功能。此外， 基因中的变体在 NSCL/P 亚型中的作用不同。我们还发现了一个错义变体，NM_001135254 p.A369V（NM_002584.2:c.1106C>T）。
总之，我们在 XXX 中证实了 3 个与 NSCL/P 显著相关的 基因 SNPs，并鉴定出一个错义变体，NM_001135254 p.A369V（NM_002584.2:c.1106C>T）。
