Azizah M R, Ainol S S, Kong N C, Normaznah Y, Rahim M N
Biotechnology Centre, Institute for Medical Research, Jalan Pahang 50588 Kuala Lumpur, Malaysia.
Korean J Intern Med. 2001 Jun;16(2):123-31. doi: 10.3904/kjim.2001.16.2.123.
Studies have shown that certain genes within the major histocompatibility complex predispose to systemic lupus erythematosus (SLE) and may influence clinical and autoantibody expression. Thus, we studied the frequency of HLA-DR, -DQA, -DQB and -DPB alleles in ethnic Malays with SLE to determine the role of these genes in determining disease susceptibility and their association with clinical and immunological manifestations.
Fifty-six Malay SLE patients were enrolled into the study. Demographic, clinical and immunological findings were obtained from medical records. HLA-DR, DQ and DP typing were done using modified PCR-RELP. Controls were from ethnically-matched healthy individuals.
We found a strongly significant association of the DR2 and DQB1 0501 and DQB10601 (pcorr = 0.03, rr = 3.83, pcorr = 0.0036, rr = 4.56 and pcorr = 0.0048 and rr = 6.0, respectively). There was also a weak increase of DQB10.201 and DPB10.0901 with a weak decrease of DQA10601 and DQB10503 and 0301 which were not significant after corrections for multiple comparisons were made. There was a significant positive association of DR2 and DQB10501 with renal involvement and DR8 with alopecia. A nonsignificant increase of DQB10503 in patients with photosensitivity was noted. Significant autoantibody associations were also found: DQB10601 with anti-Sm/RNP, DR2 with antiSSA (Ro)/SSB (La), and DR2, DQB1*0501 and *0601 with antibodies to ds DNA. There was no specific DR, DQ or DP associations with age of disease onset (below 30 years or those at or above 30 years).
Our data suggests the role of the HLA class II genes in conferring SLE susceptibility and in clinical and autoantibody expression.
研究表明，主要组织相容性复合体中的某些基因易导致系统性红斑狼疮（SLE），并可能影响临床和自身抗体表达。因此，我们研究了马来西亚SLE患者中HLA - DR、- DQA、- DQB和 - DPB等位基因的频率，以确定这些基因在决定疾病易感性中的作用及其与临床和免疫学表现的关联。
56例马来西亚SLE患者纳入研究。从病历中获取人口统计学、临床和免疫学结果。使用改良的PCR - RELP进行HLA - DR、DQ和DP分型。对照组为种族匹配的健康个体。
我们发现DR2与DQB1 * 0501和DQB1 * 0601有极显著关联（校正后p值分别为0.03，相对危险度rr = 3.83；校正后p值为0.0036，rr = 4.56；校正后p值为0.0048，rr = 6.0）。DQB1 * 0.201和DPB1 * 0.0901也有微弱增加，而DQA1 * 0601、DQB1 * 0503和* 0301有微弱减少，经多重比较校正后无显著意义。DR2和DQB1 * 0501与肾脏受累有显著正相关，DR8与脱发有显著正相关。光敏患者中DQB1 * 0503有不显著增加。还发现了显著的自身抗体关联：DQB1 * 0601与抗Sm/RNP、DR2与抗SSA（Ro）/SSB（La）以及DR2、DQB1 * 0501和* 0601与抗双链DNA抗体相关。疾病发病年龄（30岁以下或30岁及以上）与特定的DR、DQ或DP无关联。
我们的数据表明HLA II类基因在赋予SLE易感性以及临床和自身抗体表达方面的作用。
