Now Location：Home--Scientific Research--Individualized medication guidance and susceptibility gene screening Using genetic testing technology for personalized medication and screening the most suitable drugs is an effective way to avoid risks and reduce adverse reactions.According to statistics from the United Nations Health Organization, one-third of global deaths occur due to irrational drug use, rather than the disease itself. Adverse drug reactions can have their own severity and harmfulness. At present, many different diseases such as ankylosing spondylitis, rheumatoid arthritis, celiac disease, multiple sclerosis, etc. have also been extensively discussed in scientific research projects regarding the high correlation between diseases and HLA loci. Among them, the most classic clinical application is the auxiliary diagnosis of HLA-B * 27 gene testing in ankylosing spondylitis。Weihe Biotechnology can provide genetic typing testing for HLA series disease related detection sites.
HLA与自身免疫性疾病 | ||
学名 | 关联位点 | 星评 |
风湿性关节炎 Rheumatoid Arthritis | HLA-DQB1*02、DQB1*06、DPB1*0101、*0402和*0501与风湿性关节炎发生呈负相关，携带DQB1*04、DPB1*0401和*0601发生风湿性关节炎风险高 。 | ☆☆☆ |
Ⅰ型糖尿病 Type I Diabetes
| HLA-DQA1*0103、DQA1*0201、 DQA1*0401、DQB1*0301、DQB1*0402、DQB1*0501、DQB1*0503、DQB1*0601、DQB1*0602、DRB1*07、DRB1*08、DRB1*12、DRB1*13、 DRB1*14、DRB1*16、DRB1*0406与Ⅰ型糖尿病发生呈负相关，携带DQA1*0301、DQA1*0501、DQB1*0201、DQB1*0302、 DRB1*04、 DRB1*0301、 DRB1*0901 发生Ⅰ型糖尿病风险高。 | ☆☆☆ |
光化学性痒疹 Actinic Prurigo | 携带DRB1*03:01 发生光化学性痒疹风险高，OR=3.89。 | ☆☆☆ |
阿狄森氏病 Addison’s Disease | 携带DRB1*03:01 和DRB1*04:04发生阿狄森氏病风险高，其杂合组合后风险更高OR=22.13。 | ☆☆☆ |
强直性脊柱炎 Ankylosing Spondylitis | 携带 HLA-B27, 特别是HLA-B27*02和 HLA-B27*04是发生强直性脊柱炎的危险因素。 | ☆☆☆☆☆ |
白塞综合征 Behcet’s disease | 携带 HLA-B51是发生白塞综合征危险因素，OR=9.27。 | ☆☆☆☆☆ |
乳糜泻 Celiac Disease | 携带HLA-DQ2和HLA-DQ8是发生白塞综合征危险因素。HLA-DQ2和HLA-DQ8检测是排除乳糜泻常用的指标，应在未明确诊断乳糜泻前进行，如乳糜泻特异性抗体阴性或小肠近端活检标本轻度浸润改变。对于临床高度怀疑乳糜泻，存在特异性乳糜泻抗体，指南建议进行HLA-DQ2和HLA-DQ8分析，加强诊断力度。对于无症状的个体也可以先进行HLA检测，以决定是否需进行乳糜泻特异性抗体检测。HLA分型还可以用于对无谷蛋白膳食不敏感的乳糜泻患者的预测。 | ☆☆☆☆☆ |
溃疡性结肠炎 Ulcerative Colitis | HLA- DRB1*08与溃疡性结肠炎呈负相关，OR=0.12，携带HLA-DRB1*13是发生溃疡性结肠炎危险因素，OR=4.32。 | ☆☆☆ |
幼年特发性关节炎 Juvenile Idiopathic Arthritis | HLA-DRB1*12与幼年特发性关节炎呈负相关，OR=0.55， 携带HLA-DRB1*08 是发生幼年特发性关节炎危险因素，OR=2.26。 | ☆☆☆ |
多发性硬化症 Multiple sclerosis | 携带HLA-DRB1*1501是发生多发性硬化症危险因素，OR=3.06。 | ☆☆☆ |
重症肌无力 Myasthenia Gravis | HLA-DQB*03与重症肌无力呈负相关，携带HLA DQB1*05, DRB1*14和 DRB1*16 是发生重症肌无力危险因素。 | ☆☆☆ |
嗜睡症 Narcolepsy | 绝大多数嗜睡症为HLA- DQB1*06:02阳性，Han F等202 名中国南部嗜睡症患者均为HLA- DQB1*06:02阳性。 | ☆☆☆☆☆ |
银屑病 Psoriasis Vulgaris | HLA-DQA1*0501与银屑病呈负相关，携带HLA-DQA1*0104 (OR = 2.33), DQA1*0201 (OR = 3.36)是发生银屑病危险因素。 | ☆☆☆ |
系统性红斑狼疮 Systemic Lupus Erythematosus | HLA-DR4, DR11 和 DR14与系统性红斑狼疮呈负相关，携带HLA-DR3, DR9, DR15 是发生系统性红斑狼疮危险因素。 | ☆☆☆ |
葡萄膜炎 Uveitis | HLA-B27阳性前葡萄膜炎是前葡萄膜炎最常见的类型，约占40%-70%，多见于男性，单眼或双眼交替发病。 | ☆☆☆☆☆ |
鸟枪弹样视网膜脉络膜病变 Birdshot retinochoroidopathy | 约96%鸟枪弹样视网膜脉络膜病变患者携带有HLA-A29，但很多携带HLA-A29并不会发生此病变，临床上HLA-A29基因用于鸟枪弹样视网膜脉络膜病变诊断。 | ☆☆☆☆☆ |
HLA与药物不良反应 | ||
drug | effect | Star review |
卡马西平 Carbamazepine | Carbamazepine is a commonly used first-line antiepileptic drug in clinical practice, and is widely used in the fields of neurology and psychiatry. Its main adverse reactions are manifested on the skin. The CPIC guidelines stipulate that taking carbamazepine requires testing for HLA-B * 15:02 and HLA-A * 31:01 loci, which are used to guide the clinical use of carbamazepine and avoid adverse drug reactions. | ☆☆☆☆☆ |
阿巴卡韦 Abacavir | Abacavir is a nucleoside reverse transcriptase inhibitor, which can reduce the viral load in AIDS patients. About 4.3% of patients have hypersensitivity reaction (HSR). The CPIC guidelines stipulate that taking abacavir requires testing for HLA-B * 5701, and carrying this site should avoid taking abacavir to avoid adverse drug reactions. | ☆☆☆☆☆ |
别嘌呤醇 Allopurinol | Allopurinol is an enzyme inhibitor widely used in clinical practice to treat related diseases such as hyperuricemia. The common adverse reaction is rash, with an incidence rate of about 10%, and severe drug rash is more common. The CPIC guidelines stipulate that taking allopurinol requires testing for HLA-B * 5801, and carrying this site should avoid taking allopurinol to avoid adverse drug reactions. | ☆☆☆☆☆ |
苯妥英 Phenytoin | Phenylphenytoin is an antiepileptic drug, and the common adverse reactions are rash, mostly maculopapular erythema, and there are also cases of polymorphic erythema, Stevens Johnson syndrome/toxic epidermal necrolysis. The CPIC guidelines stipulate that taking phenytoin requires testing for HLA-B * 1502. Patients carrying this site should avoid taking phenytoin to avoid adverse drug reactions. In addition, for patients who do not carry HLA-B * 1502 genotype, CYP2C9 genotype testing is also required. | ☆☆☆☆☆ |
拉莫三嗪 Lamotrigine | Lamotrigine is mainly used for anti epileptic treatment, for simple partial seizures, complex partial seizures, secondary generalized tonic clonic seizures, primary generalized tonic spasmodic seizures, and can also be used to treat syndromes in refractory epilepsy. Patients carrying HLA-B * 38:01 allele are at high risk of developing Stevens Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) when taking lamotrigine. | ☆☆☆ |
Remarks：
☆☆☆☆☆：The relevance of this HLA is already very clear, with guidelines, expert consensus, and international and domestic testing services already or needed
☆☆☆：The correlation of HLA is not yet very clear and can be used as a research direction.
