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首页> 外文期刊>Annals of Human Genetics >Association of single nucleotide polymorphisms in TPM1 rs11071720, rs3803499, rs12148828, and rs1972041 with the risk of nonsyndromic cleft lip with or without cleft palate in a sample of the Iranian population, a preliminary report
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Association of single nucleotide polymorphisms in TPM1 rs11071720, rs3803499, rs12148828, and rs1972041 with the risk of nonsyndromic cleft lip with or without cleft palate in a sample of the Iranian population, a preliminary report

机译：TPM1 RS11071720中的单核苷酸多态性，RS3803499，RS12148828和RS1972041的风险，伊朗人群样本中具有或没有腭裂的唇腭裂，初步报告

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摘要

Several lines of evidence support an association between tropomyosin 1 (TPM1) and the risk of nonsyndromic cleft lip with or without cleft palate (NSCL/P). The present study aimed to investigate the association between TPM1 polymorphisms and the risk of NSCL/P in an Iranian population. This case-control was done on 105 NSCL/P patients and 110 unrelated healthy controls. TPM1 rs11071720, rs3803499, rs12148828, and rs1972041 polymorphisms were genotyped by the polymerase chain reaction-restriction fragment length polymorphism method. The finding showed that rs11071720 polymorphism significantly increased the risk of NSCL/P in homozygous codominant (odds ratio [OR] = 2.54, 95% confidence interval [CI] = 1.14-5.69, p = 0.023, TT vs. CC), recessive (OR = 2.33, 95% CI = 1.06-5.18, p = 0.021, TT vs. CT + CC), and allele (OR = 1.53, 95% CI = 1.02-2.30, p = 0.030, T vs. C). The rs12148828 polymorphism was associated with protection against NSCL/P in codominant (OR = 0.27, 95% CI = 0.15-0.48, p < 0.001, TC vs. TT) and allele (OR = 0.38, 95% CI = 0.22-0.64, p < 0.001, C vs. T). Regarding rs3803499, the findings proposed that this polymorphism significantly increased the risk of NSCL/P in codominant (OR = 3.86, 95% CI = 1.19-12.56, p = 0.025, CC vs. TT) and recessive (OR = 3.74, 95% CI = 1.09-14.15, p = 0.018, CC vs. CT + TT). No significant association was practical between rs1972041 polymorphism and NSCL/P. In conclusion, the findings proposed that TPM1 polymorphisms may contribute to the etiology of NSCL/P in a sample of the Iranian population.
机译：几种证据支持Tropomyosin 1（TPM1）之间的关联以及没有腭裂（NSCl / P）的非合成型唇裂的风险。本研究旨在探讨TPM1多态性与伊朗人群中NSCL / P的风险之间的关联。这种情况对照是在105个NSCL / P患者和110个无关的健康对照中进行的。 TPM1 RS11071720，RS3803499，RS12148828和RS1972041多态性通过聚合酶链反应限制片段长度多态性方法进行基因分型。该发现表明，RS11071720多态性显着提高了纯合的纯合型Codominant中Nscl / p的风险（差异[或] = 2.54,95％置信区间[C 1] = 1.14-5.69，P = 0.023，TT与Vs.CC），隐性（或= 2.33,95％CI = 1.06-5.18，P = 0.021，TT与CT + CC）和等位基因（或= 1.53,95％CI = 1.02-2.30，P = 0.030，T Vs. C）。 Rs12148828多态性与Codominant（或= 0.27,95％CI = 0.15-0.48，P <0.001，TC与TT）和等位基因（或= 0.38,95％CI = 0.22-0.64， P <0.001，c Vs.T）。关于RS3803499，该研究结果提出这种多态性在Codominant（或= 3.86,95％CI = 1.19-12.56，P = 0.025，CC Vs. TT）和隐性（或= 3.74,95％ CI = 1.09-14.15，P = 0.018，CC与CT + TT）。 RS1972041多态性和NSCL / P之间没有显着关联。总之，调查结果提出，TPM1多态性可能有助于伊朗人群样本中NSCL / P的病因。

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