Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning, Shenyang, China.
PLoS One. 2013 Aug 6;8(8):e70754. doi: 10.1371/journal.pone.0070754. Print 2013.
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) are common birth defects with a complex etiology. Multiple interacting loci and possible environmental factors influence the risk of NSCL/P. 12 single nucleotide polymorphisms (SNPs) in 7 candidate genes were tested using an allele-specific primer extension for case-control and case-parent analyses in northeast China in 236 unrelated patients, 185 mothers and 154 fathers, including 128 complete trios, and 400 control individuals. TGFA and IRF6 genes showed a significant association with NSCL/P. In IRF6, statistical evidence of an association between rs2235371 (p = 0.003), rs2013162 (p<0.0001) and NSCL/P was observed in case-control analyses. Family based association tests (FBATs) showed over-transmission of the C allele at the rs2235371 polymorphism (p = 0.007). In TGFA, associations between rs3771494, rs3771523 (G3822A), rs11466285 (T3851C) and NSCL/P were observed in case-control and FBAT analyses. Associations between other genes (BCL3, TGFB3, MTHFR, PVRL1 and SUMO1) and NSCL/P were not detected.
非综合征性唇裂伴或不伴腭裂（NSCL/P）是一种常见的出生缺陷，具有复杂的病因。多个相互作用的基因座和可能的环境因素影响 NSCL/P 的风险。在对中国东北地区的 236 名无亲缘关系的患者、185 名母亲和 154 名父亲（包括 128 个完整的三核苷酸）进行病例对照和病例-父母分析时，使用等位基因特异性引物延伸法检测了 7 个候选基因中的 12 个单核苷酸多态性（SNP）。TGFA 和 IRF6 基因与 NSCL/P 有显著关联。在 IRF6 基因中，rs2235371（p=0.003）和 rs2013162（p<0.0001）与 NSCL/P 的关联在病例对照分析中得到了统计学证据。基于家庭的关联测试（FBAT）显示 rs2235371 多态性的 C 等位基因过度传递（p=0.007）。在 TGFA 基因中，rs3771494、rs3771523（G3822A）和 rs11466285（T3851C）与 NSCL/P 的关联在病例对照和 FBAT 分析中均得到观察。在其他基因（BCL3、TGFB3、MTHFR、PVRL1 和 SUMO1）与 NSCL/P 之间未检测到关联。
