# HLA Association among Thai Patients with Diffuse and Limited Cutaneous Systemic Sclerosis **Authors:** Worawit Louthrenoo, Nuntana Kasitanon, Antika Wongthanee, Yuko Okudaira, Asuka Takeuchi, Hiroshi Noguchi, Hidetoshi Inoko, Fujio Takeuchi PMC · DOI: 10.3390/biomedicines12061347 · 2024-06-18 ## TL;DR This study explores the link between HLA genes and two types of systemic sclerosis in Thai patients, finding different HLA associations for each disease subtype. ## Contribution The study identifies specific HLA alleles and haplotypes associated with diffuse and limited cutaneous systemic sclerosis in the Thai population. ## Key findings - HLA Class II alleles like DRB1*15:02:01 and DQB1*05:01:24 are significantly associated with diffuse cutaneous systemic sclerosis. - HLA Class I alleles such as A*24:02:01 and B*27:06 show a possible role in limited cutaneous systemic sclerosis. - A protective association was found for DPB1*05:01:01 in limited cutaneous systemic sclerosis. ## Abstract This study aimed to clarify the association of HLA Class I and II with dcSSc and lcSSc in Thais. HLA typing for 11 gene loci (Class I: HLA-A, B and C, and Class II [HLA-DR, DP and DQ]) was carried out using the Next Generation DNA Sequencing method (three fields) in 92 Thai patients with systemic sclerosis (55 dcSSc, 37 lcSSc) and 135 healthy controls (HCs). The distribution of HLA alleles in patients with dcSSc and lcSSc was compared. When compared with HCs, the AF of A*24:02:01, A*24:07:01, B*27:04:01 and B*27:06 showed an increasing trend in lcSSc patients without statistical significance. DRB1*15:02:01, DRB5*01:02:01, DQA1*01:01:01, DQB1*05:01:24, DPA1*02:01:01 and DPB1*13:01:01 increased significantly in dcSSc patients. DQB1*05:01:24 and DPB1*13:01:01 also increased significantly in lcSSc patients, but less significantly than in dcSSc patients. The association of DPB1*05:01:01 with lcSSc was significantly protective. HLA-A*24:02:01, B*27:06 and C*03:04:01 formed a three-locus haplotype that also constituted an eight-locus haplotype with DRB1*15:02:01, DQA1*01:01:01, DQB1*05:01:24, DPA1*02:01:01 and DPB1*13:01:01. There was a possibility that HLA Class I would play a role in the pathogenesis of lcSSc, while Class II played more of a role in the dcSSc in Thai patients. ## Linked entities - **Genes:** HLA-A (major histocompatibility complex, class I, A) [NCBI Gene 3105], HLA-B (major histocompatibility complex, class I, B) [NCBI Gene 3106], HLA-C (major histocompatibility complex, class I, C) [NCBI Gene 3107], HLA-DPA1 (major histocompatibility complex, class II, DP alpha 1) [NCBI Gene 3113], HLA-DRB1 (major histocompatibility complex, class II, DR beta 1) [NCBI Gene 3123], HLA-DRB5 (major histocompatibility complex, class II, DR beta 5) [NCBI Gene 3127], HLA-DQA1 (major histocompatibility complex, class II, DQ alpha 1) [NCBI Gene 3117], BOLA-DQB1 (MHC class II antigen) [NCBI Gene 539241], HLA-DPA1 (major histocompatibility complex, class II, DP alpha 1) [NCBI Gene 3113], HLA-DPB1 (major histocompatibility complex, class II, DP beta 1) [NCBI Gene 3115] - **Diseases:** systemic sclerosis (MONDO:0005100), diffuse cutaneous systemic sclerosis (MONDO:0016356), limited cutaneous systemic sclerosis (MONDO:0016358) ## Full-text entities - **Genes:** HLA-DPB1 (major histocompatibility complex, class II, DP beta 1) [NCBI Gene 3115] {aka DPB1, HLA-DP, HLA-DP1B, HLA-DPB}, HLA-DQB1 (major histocompatibility complex, class II, DQ beta 1) [NCBI Gene 3119] {aka CELIAC1, HLA-DQB, IDDM1}, HLA-DRB1 (major histocompatibility complex, class II, DR beta 1) [NCBI Gene 3123] {aka DRB1, HLA-DR1B, HLA-DRB, SS1}, HLA-A (major histocompatibility complex, class I, A) [NCBI Gene 3105] {aka HLAA}, HLA-DQA1 (major histocompatibility complex, class II, DQ alpha 1) [NCBI Gene 3117] {aka CELIAC1, DQ-A1, DQA1, HLA-DQA, HLA-DQA1*} - **Diseases:** systemic sclerosis (MESH:D012595), Diffuse and Limited Cutaneous Systemic Sclerosis (MESH:D045743) - **Species:** Homo sapiens (human, species) [taxon 9606] --- Source: https://tomesphere.com/paper/PMC11201995