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Three novel structural variations at the major histocompatibility complex and IL12B predispose to psoriasis. 2022

Q Zhen, and Y Zhang, and Y Yu, and H Yang, and T Zhang, and X Li, and X Mo, and B Li, and J Wu, and Y Liang, and H Ge, and Q Xu, and W Chen, and W Qian, and H Xu, and G Chen, and B Bai, and J Zhang, and Y Lu, and S Chen, and H Zhang, and Y Zhang, and X Chen, and X Li, and X Jin, and X Lin, and L Yong, and M Fang, and J Zhao, and Y Lu, and S Wu, and D Jiang, and J Shi, and H Cao, and Y Qiu, and S Li, and X Kang, and J Shen, and H Ma, and S Sun, and Y Fan, and W Chen, and M Bai, and Q Jiang, and W Li, and C Lv, and S Li, and M Chen, and F Li, and Y Li, and L Sun
Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Hefei, China.

Structural variations (SVs; defined as DNA variants ≥ 50 base pairs) have been associated with various complex human diseases. However, research to screen the whole genome for SVs predisposing to psoriasis is lacking. To investigate the association of SVs and psoriasis. Using imputation, we performed a genome-wide screen of SVs on five independent cohorts with 45 386 participants from the Han Chinese population. Fine-mapping analysis, genetic interaction analysis and RNA expression analysis were conducted to explore the mechanism of SVs. In total, we obtained 4535 SVs and identified two novel deletions [esv3608550, odds ratio (OR) 2·73 (P < 2·00 × 10-308 ); esv3608542, OR 0·47 (P = 7·40 × 10-28 )] at 6q21·33 (major histocompatibility complex), one novel Alu element insertion [esv3607339; OR 1·22 (P = 1·18 × 10-35 )] at 5q33·3 (IL12B) and confirmed one previously reported deletion [esv3587563; OR 1·30 (P = 9·52 × 10-60 )] at 1q21·2 (late cornified envelope) for psoriasis. Fine-mapping analysis including single-nucleotide polymorphisms (SNPs) and small insertions/deletions revealed that esv3608550 and esv3608542 were independently associated with psoriasis, and a novel independent SNP [rs9378188; OR, 1·65 (P = 3·46 × 10-38 )] was identified at 6q21·33. By genetic interaction analysis and RNA expression analysis, we speculate that the association of two deletions at 6q21·33 with psoriasis might relate to their influence on the expression of HLA-C. We have constructed the most comprehensive SV map for psoriasis thus far and enriched the genetic architecture and pathogenesis of psoriasis, and highlight the non-negligible impact of SVs on complex diseases.

UI MeSH Term Description Entries
D008285 Major Histocompatibility Complex The genetic region which contains the loci of genes which determine the structure of the serologically defined (SD) and lymphocyte-defined (LD) TRANSPLANTATION ANTIGENS, genes which control the structure of the IMMUNE RESPONSE-ASSOCIATED ANTIGENS, HUMAN; the IMMUNE RESPONSE GENES which control the ability of an animal to respond immunologically to antigenic stimuli, and genes which determine the structure and/or level of the first four components of complement. Histocompatibility Complex,Complex, Histocompatibility,Complex, Major Histocompatibility,Complices, Histocompatibility,Complices, Major Histocompatibility,Histocompatibility Complex, Major,Histocompatibility Complices,Histocompatibility Complices, Major,Major Histocompatibility Complices
D011565 Psoriasis A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis. Palmoplantaris Pustulosis,Pustular Psoriasis of Palms and Soles,Pustulosis Palmaris et Plantaris,Pustulosis of Palms and Soles,Psoriases
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015236 HLA-C Antigens Class I human histocompatibility (HLA) antigens encoded by a small cluster of structural genes at the C locus on chromosome 6. They have significantly lower immunogenicity than the HLA-A and -B determinants and are therefore of minor importance in donor/recipient crossmatching. Their primary role is their high-risk association with certain disease manifestations (e.g., spondylarthritis, psoriasis, multiple myeloma). Antigens, HLA-C,HLA-C,Antigens, HLA C,HLA C Antigens
D053762 Interleukin-12 Subunit p40 A cytokine subunit that is a component of both interleukin-12 and interleukin-23. It binds to the INTERLEUKIN-12 SUBUNIT P35 via a disulfide bond to form interleukin-12 and to INTERLEUKIN-23 SUBUNIT P19 to form interleukin-23. IL-12p40,Interleukin-12 beta Chain,Interleukin-12,23 p40 Subunit,Interleukin-12b,Interleukin-23 Subunit p40,Chain, Interleukin-12 beta,Interleukin 12 Subunit p40,Interleukin 12 beta Chain,Interleukin 12,23 p40 Subunit,Interleukin 12b,Interleukin 23 Subunit p40,beta Chain, Interleukin-12,p40 Subunit, Interleukin-12,23,p40, Interleukin-23 Subunit
D020022 Genetic Predisposition to Disease A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. Genetic Predisposition,Genetic Susceptibility,Predisposition, Genetic,Susceptibility, Genetic,Genetic Predispositions,Genetic Susceptibilities,Predispositions, Genetic,Susceptibilities, Genetic
D020641 Polymorphism, Single Nucleotide A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population. SNPs,Single Nucleotide Polymorphism,Nucleotide Polymorphism, Single,Nucleotide Polymorphisms, Single,Polymorphisms, Single Nucleotide,Single Nucleotide Polymorphisms

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