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首页> 外文期刊>Annals of Human Genetics >SLC40A1 SLC40A1 and CP CP single nucleotide polymorphisms in porphyria cutanea tarda patients of mixed ancestry
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SLC40A1 SLC40A1 and CP CP single nucleotide polymorphisms in porphyria cutanea tarda patients of mixed ancestry

机译：SLC40A1 SLC40A1和CP CP CP CP单核苷酸多态性在卟啉区Cutanea Tarda患者混合祖先患者

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Abstract Porphyria cutanea tarda (PCT) is a multifactorial disease; clinical expression depends on both genetic and acquired factors. Few studies have examined the connection between PCT and the regulation of iron metabolism genes other than the HFE gene. We selected five polymorphisms in the CYBRD1 , CP , SLC40A1 , and HAMP genes to determine whether these polymorphisms can act as genetic modulators in patients with sporadic PCT. None of the 29 patients carried the C282Y mutation. Genomic DNA from 29 PCT patients was isolated. Alleles were discriminated using the ABI StepOnePlus Real‐Time PCR System using TaqMan Assays. The results were compared with 107 healthy individuals matched for genetic ancestry, gender, and age. European ancestry was prevalent among PCT patients (68.3%). The frequency of the TT genotype of rs13015236 in the SLC40A1 gene was higher in PCT patients (44.8%) than in controls (20.6%) ( P ??0.02). The C allele was more frequent among healthy individuals (53.3%) compared with patients (34.5%) ( P ??0.01). The rs17838832 G allele of the CP gene was more common among PCT patients (14.3%) compared with controls (4.9%) ( P ??0.05). There was no statistically significant difference concerning the three remaining polymorphisms. Our data highlight a possible role for the rs17838832 single nucleotide polymorphisms in CP in causing PCT (higher frequency of the G variant in patients). Regarding the rs13015236 single nucleotide polymorphisms in SLC40A1 , the presence of a C allele could protect against PCT.
机译：摘要卟啉区塔巴（PCT）是多因素疾病;临床表达取决于遗传和获得的因素。少数研究已经检查了PCT与除HFE基因以外的铁代谢基因之间的联系。我们在CyBRD1，CP，SLC40A1和HAMP基因中选择了五种多态性，以确定这些多态性是否可以作为散发性PCT患者的遗传调节剂。 29名患者中没有一个均导致C282Y突变。分离来自29个PCT患者的基因组DNA。使用Taqman测定，使用ABI StealOneplus实时PCR系统对等位基因进行区分。将结果与107名健康个体进行比较，符合遗传血统，性别和年龄。欧洲祖先在PCT患者中普遍存在（68.3％）。 PCT患者的SLC40A1基因RS13015236的TT基因型的频率高于对照（20.6％）（p≤0.02）。与患者相比，C等位基因更频繁（53.3％）（53.3％）（34.5％）（p≤≤0.01）。 CP基因的RS17838832 G等位基因在PCT患者（14.3％）中更常见（14.3％）与对照（4.9％）（p≤≤0.05）。关于三种剩余多态性没有统计学显着的差异。我们的数据突出显示CP的RS17838832单核苷酸多态性的可能作用，导致PCT（患者G变体的较高频率）。关于SLC40A1中的RS13015236单核苷酸多态性，C等位基因的存在可以防止PCT。

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