Association of transforming growth factor-β1 gene variants with risk of coal workers pneumoconiosis
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Graphical Abstract
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Abstract
Objective:?The?aim?of?this?case-control?study?was?to?explore?whether?five?tagging?single?nucleotide?poly-morphisms?(tSNPs)?within?the?transforming?growth?factor-β1?(TGF-β1)?gene?were?involved?in?manifestation?of?inflammatory?and?fibrotic?processes?associated?with?coal?workers'?pneumoconiosis?(CWP).?Methods:?The?study?included?508?CWP?patients?and?526?controls?who?were?underground?coal?miners?from?Xuzhou?Mining?Business?Group.?Five?tSNPs?were?selected?from?the?HapMap?and?detected?by?polymerase?chain?reaction-restriction?frag-ment?length?polymorphism?(PCR-RFLP)?method.?Results:?The?single?SNP?analysis?showed?that?the?genotype?frequencies?of?SNP2?(rs1800470,?+869T/C,?extron?1)?and?SNP5?(rs11466345,?intron?5)?in?CWP?cases?were?sig-nificantly?different?from?those?in?controls.?Multivariate?logistic?regression?analysis?revealed?that?SNP2?(rs1800470)?CC?genotype?was?associated?with?decreased?risk?of?CWP?(OR?=?0.50,?95%?CI?=?0.32-0.78),?which?was?evident?among?subgroups?of?those?never?smoke?(OR?=?0.40,?95%CI?=?0.24-0.66),?cases?with?stage?Ⅱ?(OR?=?0.41,?95%CI?=?0.22-0.76)?and?exposure?period?(28?y:?OR?=?0.54,?95%CI?=?0.31-0.95;?≥28?y:?OR?=?0.52,?95%CI?=?0.32-0.96).?However,?the?SNP5?(rs11466345)?GG?genotype?was?associated?with?an?increased?risk?of?CWP?(OR?=?2.5,?95%CI?=?1.36-4.57),?and?further?stratification?analysis?showed?that?the?risk?of?CWP?was?increased?in?both?smoking?and?nonsmoking?groups,?shorter?and?longer?exposure?groups,?while?the?risk?of?CWP?was?only?increased?in?patients?with?stage?Ⅰ?andⅡ.?Conclusion:?This?study?suggests?that?TGF-β1?polymorphisms?may?contribute?to?susceptibility?of?CWP.
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