title: Contribution of protein Z gene single-nucleotide polymorphism to systemic lupus erythematosus in Egyptian patients.
abstract: Protein Z has been reported to exert an important role in inhibiting coagulation. Polymorphisms in the protein Z gene (PROZ) may affect protein Z levels and thus play a role in thrombosis. This study aimed to investigate the prevalence and clinical significance of protein Z gene G79A polymorphism in Egyptian patients with systemic lupus erythematosus (SLE). We studied the distribution of the protein Z gene (rs17882561) (G79A) single-nucleotide polymorphism by PCR-restriction fragment length polymorphism in 100 Egyptian patients with SLE and 100 age, sex, and ethnically matched controls. There was no statistically significant difference in the distribution of the genotypes between SLE patients and the control group in our study (P = 0.103). But a statistically significant difference in the frequency of the alleles between SLE patients and controls was observed (P = 0.024). Also a significant association was detected between protein Z genotypes (and also A allele) and thrombosis, which is one of the manifestations of SLE (P = 0.004 and P = 0.001, respectively). Moreover, we observed a significant association between the protein Z AA and GA genotypes (and also A allele) and the presence of anticardiolipin antibodies (P = 0.016 and P = 0.004, respectively). The minor A allele of the G79A polymorphism in the protein Z gene might contribute to the genetic susceptibility of SLE in Egyptian patients. Also, an influence for this polymorphism on some of the disease manifestations has been elucidated, so protein Z G79A AG/AA may be a risk factor for thrombosis.
authors.affiliation: aDepartment of Clinical Pathology bDepartment of Rheumatology and Rehabilitation, Kasr Al Ainy Hospital, Cairo University, Cairo, Egypt.
authors.forename: Sherif M
authors.initials: SM
authors.lastname: Yousry
authors.forename: Rasha M H
authors.initials: RM
authors.lastname: Shahin
authors.forename: Rasha M
authors.initials: RM
authors.lastname: El Refai
mesh_terms: D000328:Adult; D000483:Alleles; D017153:Antibodies, Anticardiolipin / Q000097:blood; D001798:Blood Proteins / Q000235:genetics* / Q000378:metabolism; D016022:Case-Control Studies; D004534:Egypt; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D013927:Thrombosis / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
chemical_list: D017153:Antibodies, Anticardiolipin; D001798:Blood Proteins; C026080:plasma protein Z