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  • Title: 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.
    Author: Rafighdoost H, Tabatabaei F, Bahari G, Hashemi M.
    Journal: Ann Hum Genet; 2019 Jul; 83(4):256-265. PubMed ID: 30888054.
    Abstract:
    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.
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