Subject(s)
Acne Conglobata/genetics , Amyloid Precursor Protein Secretases/genetics , Hidradenitis Suppurativa/genetics , Membrane Glycoproteins/genetics , Mutation , Acne Conglobata/diagnosis , DNA Mutational Analysis , Family Health , Female , Frameshift Mutation , Gene Expression Profiling , Genetic Association Studies , Hidradenitis Suppurativa/diagnosis , Humans , Male , Phenotype , Receptors, Notch/metabolismABSTRACT
Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition characterized by swollen, painful, inflamed lesions in the axillae, groin, armpits and other parts of the body that contain apocrine glands. The aetiology of HS is unknown, and earlier reports indicate genetic locus responsible for this phenotype on chromosome 1p21.1-1q25.3, but no causative gene(s) have yet been identified. We studied two large multigeneration pedigrees (UR251 and UR252), in which the condition appeared to segregate as an autosomal dominant trait with 100% penetrance. No skipping of generations was observed in either family. Pedigrees consist of 96 individuals, including 25 affected individuals. Because of squamous cell carcinoma, a few deaths were reported in family UR0251. The locus on chromosome 1p21.1-1p25.3, known from previous studies is associated with HS, was excluded in both families by linkage and haplotype analyses. Further studies are in progress to identify the region that is associated with the phenotype in these families.
Subject(s)
Chromosomes, Human, Pair 1 , Hidradenitis Suppurativa/genetics , Female , Genes, Dominant , Genetic Heterogeneity , Genetic Predisposition to Disease , Humans , India , MaleABSTRACT
BACKGROUND: Stevens-Johnson Syndrome (SJS) and toxic epidermal necrolysis are severe cutaneous reactions caused by certain drugs, including antiepileptic carbamazepine. A strong association has been reported between human leucocyte antigen (HLA)-B*1502 and carbamazepine-induced SJS in Han Chinese patients. European studies suggested that HLA-B*1502 is not a universal marker but is ethnicity-specific for Asians. AIM: To study the association between HLA-B*1502 and carbamazepine-induced SJS in Indian patients. METHODS: Eight individuals who fulfilled the diagnostic criteria of SJS induced by carbamazepine were identified and HLA-B molecular typing was performed. HLA-B genotyping was carried out by polymerase chain reaction using sequence-specific primers. RESULTS: Out of eight patients studied for genotype, six patients were found to have the HLA-B*1502 allele. CONCLUSION: This study suggests an association between HLA-B*1502 and carbamazepine-induced SJS in Indian patients.
