Kamila Skretkowicz-Szarmach

PubMed2006

[Genetics in systemic sclerosis].

Systemic sclerosis (SSc) is chronic autoimmune disease that may affect many organs. Genetic and environmental factors are implicated in the pathogenesis of SSc. Systemic sclerosis prevalence is connected with sex, autoimmune diseases or phenomena, several ethnic groups and families. In this study we describe numerous genetic phenomena that may be implicated in the etiopathogenesis of SSc. i.e. antigens of major histocompatibility complex, microchimerism, polymorphism of several genes coding extracellular matrix components, receptors, adhesion molecules and cytokines. Genetic background plays an important role in this disorder and is connected with multiple genes.

Humans↗

PubMedDate not supplied

Acetylation genotype and phenotype in patients with systemic lupus erythematosus.

UNLABELLED: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease affecting various tissues and organs. In the studies on SLE etiopathogenesis, a potential role of genetically determined impairment of xenobiotic metabolism has been emphasized. N-acetyltransferase 2 enzyme (NAT2) exhibits gene polymorphism and the acetylation rate with NAT2 involvement varies from person to person. The study on acetylation phenotype was carried out using isonicotinic acid hydrazide (isoniazid) as a model drug, while NAT2 alleles were determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assays. Among patients with SLE, NAT2*4/NAT2*6 and NAT2*5/NAT2*5 genotypes occurred most frequently, while NAT2*4/NAT2*6 and NAT2*5/NAT2*6 prevailed in the control group. The concordance of 96.8% was achieved between acetylation phenotype and NAT2 genotype in the group of SLE patients studied. CONCLUSION: Acetylation polymorphism appears not to be an important risk factor in SLE.

Acetylation↗