1. SLC40A1 and CP single nucleotide polymorphisms in porphyria cutanea tarda patients of mixed ancestry
- Author
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Ronald Costa Neto, Adriana Paulino do Nascimento, Luís Cristóvão Porto, Dayse A. Silva, Isabella Brasil Succi, and João Carlos Macedo Fonseca
- Subjects
Adult ,Male ,Porphyria Cutanea Tarda ,0301 basic medicine ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Single-nucleotide polymorphism ,Polymorphism, Single Nucleotide ,Gastroenterology ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,parasitic diseases ,Genotype ,Genetics ,medicine ,Humans ,Porphyria cutanea tarda ,Allele ,Cation Transport Proteins ,Gene ,Alleles ,Genetics (clinical) ,Aged ,biology ,business.industry ,Racial Groups ,Case-control study ,Ceruloplasmin ,Middle Aged ,medicine.disease ,030104 developmental biology ,Case-Control Studies ,030220 oncology & carcinogenesis ,biology.protein ,Female ,HAMP ,business ,hormones, hormone substitutes, and hormone antagonists - 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
- Published
- 2018