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1.
Clin Exp Dermatol ; 45(6): 699-704, 2020 Aug.
Article in English | MEDLINE | ID: mdl-32112449

ABSTRACT

BACKGROUND: Alopecia areata (AA) is a skin disease that produces hair loss in patches of skin. The underlying mechanism of AA is a loss of immune privilege of hair follicles, which are then attacked by natural killer (NK) cells. A previous genome-wide association study linked single nucleotide polymorphisms of the protein MHC class I chain-related A (MICA) to this disease. MICA is the ligand for the activating receptor NKG2D, expressed mainly by NK cells and CD8+ cytotoxic T cells. As the aforementioned study did not include short tandem repeats (STRs) of MICA, we decided to study these in relation to AA. AIM: To study the association of STRs with AA, alongside that of human leucocyte antigen (HLA) locus B, which is closely linked to MICA. METHODS: DNA amplicon size analysis was carried out, and HLA-B locus genomic typing was performed by PCR-sequence-specific oligonucleotide analysis. RESULTS: We observed an association between AA and both MICA*009 and HLA-B14; associations were also observed between HLA-B alleles and MICA alleles, which have both been previously found to be connected with AA, but never studied together. CONCLUSIONS: We conclude that it is important to study HLA-B and MICA together to avoid the influence of their association in experiments in which they are investigated separately.


Subject(s)
Alopecia Areata/genetics , HLA-B14 Antigen/genetics , Histocompatibility Antigens Class I/genetics , Microsatellite Repeats , Genetic Predisposition to Disease , Genotype , HLA-B Antigens/genetics , Humans , Polymorphism, Single Nucleotide , Sequence Analysis, DNA
2.
Clin Exp Immunol ; 184(3): 323-31, 2016 06.
Article in English | MEDLINE | ID: mdl-26940143

ABSTRACT

Ulcerative colitis (UC) is one of the two major forms of inflammatory bowel disease, the aetiology of which remains unknown. Several studies have demonstrated the genetic basis of disease, identifying more than 130 susceptibility loci. The major histocompatibility complex class I chain-related gene A (MICA) is a useful candidate to be involved in UC pathogenesis, because it could be important in recognizing the integrity of the epithelial cell and its response to stress. The aim of this study was to analyse the relationship between polymorphisms in the transmembrane domain of MICA and susceptibility to develop UC. A total of 340 patients with UC and 636 healthy controls were genotyped for MICA transmembrane polymorphism using a polymerase chain reaction (PCR) combined with fluorescent technology. Different MICA alleles were determined depending on the PCR product size. The allele MICA*A4 was less frequent in patients than in controls (P = 0·003; OR = 0·643), and this protective role is higher when it forms haplotype with B*27 (P = 0·002; OR = 0·294). The haplotype HLA-B*52/MICA*A6 was also associated with UC [P = 0·001; odds ratio (OR) = 2·914]. No other alleles, genotypes or haplotypes were related with UC risk. Moreover, MICA*A5.1 is associated independently with abscesses (P = 0·002; OR = 3·096) and its frequency is lower in patients diagnosed between ages 17 and 40 years (P = 0·007; OR = 0·633), meaning an extreme age on onset. No association with location, extra-intestinal manifestations or need for surgery was found.


Subject(s)
Abscess/immunology , Colitis, Ulcerative/immunology , Genetic Predisposition to Disease , Histocompatibility Antigens Class I/immunology , Polymorphism, Genetic/immunology , Abscess/diagnosis , Abscess/genetics , Abscess/pathology , Adult , Age of Onset , Alleles , Amino Acid Sequence , Case-Control Studies , Colitis, Ulcerative/diagnosis , Colitis, Ulcerative/genetics , Colitis, Ulcerative/pathology , Female , Gene Expression , Gene Frequency , HLA-B27 Antigen/genetics , HLA-B27 Antigen/immunology , HLA-B52 Antigen/genetics , HLA-B52 Antigen/immunology , Haplotypes , Histocompatibility Antigens Class I/genetics , Humans , Male , Middle Aged , Models, Molecular , Odds Ratio , Protein Domains , Protein Isoforms/genetics , Protein Isoforms/immunology , Sequence Alignment
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