背景:人类白细胞抗原(HLA)等位基因频率与各种自身免疫性疾病的发病机理有关。
方法:我们招募了31名印度获得性皮肤黄斑色素沉着(ADMH)患者和60名无关患者,年龄和性别匹配的健康对照。经过病史和临床检查,收集EDTA小瓶中的5ml血液。对这些样品进行DNA提取和HLAA的表达,B,C,DR,DQ-A,并对DQ-B进行了研究。
结果:女性的性别比例为23:8,最常见的光型是FitzpatrickIV型(83.9%)。HLAA*03:01有显著关联(OR:5.8,CI:1.7-17.0,P=0.005),HLAB*07:02(OR:5.3,CI:1.9-14.6,P=0.003),HLAC*07:02(OR:4.3,CI:1.8-9.6,P=0.001),HLADRB1*10:01(OR:7.6,CI:1.7-38.00,P=0.022),与对照组相比,患者的HLADRB1*15:02(OR:31.0,CI:4.4-341.8,P<0.001),与对照组相比,HLADQB*03:01与患者的相关性较低(OR:0.2,CI:0.0-0.6,P=0.009)。
结论:ADMH患者更可能具有HLAA*03:01,HLAB07*02,HLAC*07:02,HLADRB1*10:01,HLADRB1*15:02,而不太可能具有HLADQB*03:01等位基因。因此,可以进行更大的队列研究,研究这些特定的等位基因。
BACKGROUND: Human leukocyte antigen (HLA) allele frequencies have a known association with the pathogenesis of various autoimmune diseases.
METHODS: We recruited 31 Indian patients of acquired dermal macular hyperpigmentation (ADMH) and 60 unrelated, age-and-gender-matched healthy controls. After history and clinical examination, 5 ml of blood in EDTA vials was collected. These samples were subjected to DNA extraction and the expression of HLA A, B, C, DR, DQ-A, and DQ-B was studied.
RESULTS: There was a predominance of females with a gender ratio of 23 : 8 and the most common phototype was Fitzpatrick type IV (83.9%). There was a significant association of HLA A*03:01 (OR: 5.8, CI: 1.7-17.0, P = 0.005), HLA B*07:02 (OR: 5.3, CI: 1.9-14.6, P = 0.003), HLA C*07:02 (OR: 4.3, CI: 1.8-9.6, P = 0.001), HLA DRB1*10:01 (OR: 7.6, CI: 1.7-38.00, P = 0.022), and HLA DRB1*15:02 (OR: 31.0, CI: 4.4-341.8, P < 0.001) with patients compared to controls, whereas HLA DQB*03:01 was less associated with patients compared to controls (OR: 0.2, CI: 0.0-0.6, P = 0.009).
CONCLUSIONS: Patients with ADMH are more likely to have the HLA A*03:01, HLA B 07*02, HLA C*07:02, HLA DRB1*10:01, HLA DRB1*15:02 and less likely to have the HLA DQB*03:01 allele. Larger cohort studies may thus be conducted studying these specific alleles.