Vitamin D receptor gene BsmI polymorphisms in Egyptian children and adolescents with systemic lupus erythematosus A case-control study

被引：17

作者：

Azab, Seham F. ^{[1
]}

Ali, Yasser F. ^{[1
]}

Farghaly, Mohsen A. A. ^{[2
]}

Hamed, Mohammed E. ^{[1
]}

Allah, Mayy A. N. ^{[1
]}

Emam, Ahmed A. ^{[1
]}

Abdelsalam, Nasser I. ^{[1
]}

Hashem, Mustafa I. A. ^{[1
]}

Gawish, Heba H. ^{[3
]}

Nabil, Rehab M. ^{[3
]}

Kamel, Lamiaa M. ^{[3
]}

Fahmy, Dalia S. ^{[4
]}

Alsayed, Salah F. ^{[5
]}

Al Azizi, Nashwa M.

Al-Akad, Ghada M.

Noah, Maha A. ^{[1
]}

Abdelrahman, Hind M. ^{[1
]}

Ahmed, Ahmed R. ^{[1
]}

Bendary, Eman A. ^{[1
]}

机构：

[1] Zagazig Univ, Dept Pediat, Fac Med, Zagazig, Egypt

[2] Aswan Univ, Dept Pediat, Fac Med, Aswan, Egypt

[3] Zagazig Univ, Fac Med, Dept Clin Pathol, Zagazig, Egypt

[4] Zagazig Univ, Fac Med, Dept Rheumatol, Zagazig, Egypt

[5] Zagazig Univ, Fac Med, Dept Internal Med, Zagazig, Egypt

来源：

MEDICINE | 2016年 / 95卷 / 46期

关键词：

adolescents; children; gene polymorphisms; systemic lupus erythematosus; vitamin D receptors; SERUM 25-HYDROXYVITAMIN D; DISEASE-ACTIVITY; RISK-FACTORS; D DEFICIENCY; 1,25-DIHYDROXYVITAMIN D-3; CHINESE PATIENTS; ASSOCIATION; EXPRESSION; SLE; PREVALENCE;

D O I：

10.1097/MD.0000000000005233

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease. The vitamin D receptor (VDR) gene is a candidate gene for susceptibility to autoimmune disorders. To date, only a few studies concerned the association of the VDR gene polymorphisms with childhood-onset SLE. In this study, we aimed to investigate the BsmI polymorphisms in the VDR gene, for the first time in Egyptian children and adolescents with SLE, to determine whether this polymorphism could be a marker of susceptibility to or severity of SLE and we also measured the serum level of 25-hydroxyvitamin D (25[OH]D) to assess its relation to such polymorphism. This was a case-control study including 100 patients with SLE and matched with age, sex, and ethnicity and 100 healthy controls. All subjects were genotyped for the VDR gene BsmI polymorphism by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), whereas the serum 25(OH)D levels were measured by enzyme-linked immunosorbent assay method. Compared to the contros subjects, the VDR BsmI BB genotype and B allele were overrepresented among SLE patients (odda ratio [OR]: 5.5; 95% confidence interval [CI]: 1.9-15.9; P=0.002 and OR: 1.84; 95% CI: 1.21-2.80; P=0.003; respectively). We found a significant association between VDR BsmI BB genotype with lupus nephritis (OR: 6.8; 95% CI: 1.18-50.5; P=0.001). However, we did not observe any significant association of studied polymorphisms with other clinical manifestations, laboratory profiles of SLE, or disease activity score. Our data revealed no association between VDR BsmI genotypes or alleles and serum 25-hydroxyvitamin D levels among studied patients with SLE (all P>0.05). We demonstrate for the first time, to the best of our knowledge, that the VDRBsmI gene polymorphisms may contribute to susceptibility to SLE in Egyptian children and adolescents. Moreover, we found that the BB genotype constituted a risk factor for the development of nephropathy among studied patients with SLE. However, we did not find any significant association of the VDR BsmI gene variants with other clinical manifestations, laboratory profiles of SLE, disease activity index score, or serum 25-hydroxyvitamin D levels.

引用

页数：7

共 49 条

[11] Modulatory effects of 1,25-dihydroxyvitamin D3 on human B cell differentiation [J].