Acetylation genotype and phenotype in patients with systemic lupus erythematosus.
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.


CONCLUSIONS
Acetylation polymorphism appears not to be an important risk factor in SLE.
Rychlik-Sych
Mariola
M
Department of Pharmacogenetics, Medical University of Łódź, Muszyńskiego 1, PL 90-151 Łódź, Poland. mrychlik@pharm.am.lodz.pl
Skretkowicz
Jadwiga
J
Gawrońska-Szklarz
Barbara
B
Górnik
Wanda
W
Sysa-Jedrzejowska
Anna
A
Skretkowicz-Szarmach
Kamila
K
D000107:Acetylation; D000293:Adolescent; D000328:Adult; D000368:Aged; D001191:Arylamine N-Acetyltransferase / Q000235:genetics* / Q000378:metabolism; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007538:Isoniazid / Q000378:metabolism; D008180:Lupus Erythematosus, Systemic / Q000201:enzymology / Q000209:etiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017354:Point Mutation; D011110:Polymorphism, Genetic; D015262:Xenobiotics / Q000378:metabolism
D015262:Xenobiotics; D001191:Arylamine N-Acetyltransferase; C478900:NAT2 protein, human; D007538:Isoniazid