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

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. K E Y W O R D Snonsyndromic cleft, NSCL/P, polymorphism, tropomyosin 1 (TPM1) 256

Association between Genetic Polymorphisms of miR-1307, miR- 1269, miR-3117 and Breast Cancer Risk in a Sample of South East Iranian Women

“…A Single Nucleotide Polymorphism (SNP) is a replacement of a nucleotide at several positions in the human genome (Kitts and Sherry, 2002). Studies by Dr. Hashemi's research team showed that there had been relationships between SNPs and different diseases, including breast cancer (Hassanzarei et al, 2017), prostate cancer (Hassanzarei et al, 2017;Sattarifard et al, 2019), lung cancer , colorectal cancer , bladder cancer (Sadeghi-Bojd et al, 2019), nephrotic syndrome (Sadeghi-Bojd et al, 2019), nonsyndromic cleft lip (Rafighdoost et al, 2015;Rafighdoost et al, 2017;Rafighdoost et al, 2018;Rafighdoost et al, 2019), and nonalcoholic fatty liver disease (Hashemi et al, 2013).…”

Genetic Analysis of TPM1 Gene Polymorphism (rs11071720) in Patients with Non-Syndromic Cleft Lip/Palate in the South Indian Population. A Case Control Study

“…Existing studies on the influence of TPM1 gene in the development of non syndromic cleft lip and palate have established some association between a few SNP and NSCL/P in different ethnic population (23)(24)(25)(26). SNPs rs1972041GA, rs197204, rs11071720, rs3803499, rs 1873147 and rs12148828 were studied in the Chinese population for its influence in the development of NSCL/P (24,25).…”

“…SNPs rs1972041GA, rs197204, rs11071720, rs3803499, rs 1873147 and rs12148828 were studied in the Chinese population for its influence in the development of NSCL/P (24,25). SNPs rs11071720, rs12148828, rs3803499 and rs1972041 have been evaluated for association NSCL/P in the Iranian polymorphism (23). European-descent population-based studies found significant associations between isolated cleft lip only and fetal SNPs near TPM1 gene (26).…”