Integrated Analysis of the Association Between Variants at PAX7 and NSCL/P in the Han Population.

IF 1.2 4区医学 Q3 DENTISTRY, ORAL SURGERY & MEDICINE

Cleft Palate-Craniofacial Journal Pub Date : 2024-08-01 Epub Date: 2023-03-15 DOI:10.1177/10556656231163398

Cheng-Wei Yang, Yue You, Jia-Lin Sun, Bing Shi, Zhong-Lin Jia

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引用次数: 0

Abstract

Objective: Paired box 7 (PAX7) 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 PAX7 and explored the roles of variants at PAX7 in NSCL/P among the XXX.

Design: 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 PAX7 gene in NSCL/P subtypes. Additionally, indirect associations were found by calculating LD and haplotypes.

Setting: 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.

Interventions: Blood samples were collected.

Main outcome measures: To explore the association analysis between variants at PAX7 and NSCL/P in XXX.

Results: The results showed that rs2236810, rs114882979 and rs2236804 were significantly associated with NSCL/P, which were predicted to have regulatory functions. Besides, variants at PAX7 function differently in the NSCL/P subtypes. We also discovered a PAX7 missense variant, NM_001135254 p.A369 V (NM_002584.2:c.1106C > T).

Conclusions: In summary, we confirmed 3 SNPs at PAX7 were significantly associated with NSCL/P in XXX and identified a missense variant, NM_001135254 p.A369 V (NM_002584.2:c.1106C > T).

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汉族人群中 PAX7 基因变异与 NSCL/P 基因变异之间关联的综合分析

目的：配对框 7（PAX7）被认为是非综合征性唇裂伴或不伴腭裂（NSCL/P）的候选基因。然而，目前还没有针对 XXX 的研究，以往的研究也主要集中在有限的变异上。本研究旨在对 PAX7 的变异进行足够密集和强大的扫描，并探讨 PAX7 的变异在 XXX 人 NSCL/P 中的作用：设计：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。第一阶段分析了 159 例 NSCL/P 病例和 542 例对照。然后在第二阶段使用1626例病例和2255例对照进行了验证研究。我们还探讨了 PAX7 基因变异在 NSCL/P 亚型中的作用。此外，我们还通过计算LD和单倍型发现了间接关联：研究在 XXX 进行：第一阶段分析了 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：干预措施：采集血样：主要结果测量：探讨XXX中PAX7变异与NSCL/P之间的关联分析：结果：结果显示，rs2236810、rs114882979和rs2236804与NSCL/P显著相关，这些变异被认为具有调控功能。此外，PAX7变体在NSCL/P亚型中的功能不同。我们还发现了一个PAX7错义变异，NM_001135254 p.A369 V (NM_002584.2:c.1106C>T)：总之，我们证实了 PAX7 的 3 个 SNP 与 XXX 的 NSCL/P 显著相关，并发现了一个错义变异 NM_001135254 p.A369 V (NM_002584.2:c.1106C > T)。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Cleft Palate-Craniofacial Journal 医学-外科

CiteScore

2.70

自引率

36.40%

发文量

215

期刊介绍： The Cleft Palate-Craniofacial Journal (CPCJ) is the premiere peer-reviewed, interdisciplinary, international journal dedicated to current research on etiology, prevention, diagnosis, and treatment in all areas pertaining to craniofacial anomalies. CPCJ reports on basic science and clinical research aimed at better elucidating the pathogenesis, pathology, and optimal methods of treatment of cleft and craniofacial anomalies. The journal strives to foster communication and cooperation among professionals from all specialties.