TGFA 和 IRF6 导致中国东北地区非综合征型唇裂伴或不伴腭裂的发病风险增加。
TGFA and IRF6 contribute to the risk of nonsyndromic cleft lip with or without cleft palate in northeast China.
机构信息
Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning, Shenyang, China.
出版信息
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。
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