Zhu Jiang-Hui, Ren Ai-Guo, Hao Ling, Pei Li-Jun, Zhang Bo-Lan, Zhou Min-Xia, Sun Xia-Mei, Jiang Mei-Fang, Chen Hai-Lan, Li Zhu
Institute of Reproductive and Child Health, National Reference Laboratory on Reproductive Health Research, Ministry of Health, Peking University, Beijing 100083, China.
Zhonghua Yu Fang Yi Xue Za Zhi. 2006 Nov;40(6):409-14.
To study the association between transforming growth factor alpha gene (TGFalpha) TaqI variant and nonsyndromic cleft lip with or without cleft palate (nsCL/P) in Chinese population, and the interaction with parental smoking.
TGFalpha TaqI variant was detected using RFLP-PCR for DNA samples of the 170 triads with nsCL/P affected child. We performed the transmission/disequilibrium test (TDT) and the family-based association study (FBAT) to test the associations between this variant and risk of nsCL/P.
It was not found significant distortion of C2 allele at TGFalpha TaqI locus in nsCL/P groups (P > 0.05), however, by stratified analysis, we found that the rate of C2 allele transmission among nuclear families whose fathers were smoking was 1/5 (0.062 - 0.711) as compared with that among nuclear families whose fathers were not smoking, and the OR of interaction between TGFalpha variant and parental smoking is 0.102 (0.017 - 0.619).
The parental smoking may interact with TGFalpha variants of Chinese populations in occurrence of nsCL/P, but it remains to have more investigations.
研究转化生长因子α基因（TGFα）TaqI 变异与中国人群非综合征性唇裂伴或不伴腭裂（nsCL/P）之间的关联，以及与父母吸烟的相互作用。
采用 RFLP-PCR 检测 170 个有 nsCL/P 患儿的三联体的 DNA 样本中 TGFα TaqI 变异。我们进行传递不平衡检验（TDT）和基于家系的关联研究（FBAT）来检测该变异与 nsCL/P 风险之间的关联。
在 nsCL/P 组中未发现 TGFα TaqI 位点 C2 等位基因有显著畸变（P > 0.05），然而，通过分层分析，我们发现父亲吸烟的核心家庭中 C2 等位基因传递率为 1/5（0.062 - 0.711），而父亲不吸烟的核心家庭中该传递率与之相比，TGFα 变异与父母吸烟之间相互作用的 OR 为 0.102（0.017 - 0.619）。
父母吸烟可能在 nsCL/P 的发生中与中国人群的 TGFα 变异相互作用，但仍需更多研究。
