Psoriasis

Psoriasis is a disease which causes red scaly patches to appear on the skin. See also psoriatic arthritis for overlap in associated SNPs.

rs1265181(G) or the equivalent and non ambiguous rs1265159(A) increases risk by 22x and marks the HLA-Cw*0602 (also known as HLA-C*06:02) allele.

rs4406273(A) is also reported to be a near-perfect proxy for the HLA-C*06:02 allele in multiple populations but it may not be present on microarrays in common use.

Numerous other SNPs have been linked to psoriasis, few have been unequivocally associated with it, with the exception of a major susceptibility locus on chromosome 6 that appears to be the HLA-Cw*0602 allele.[PMID 18021893] SNPs associated with the Class I region include:

• rs10484554, which lies 34.7 kb upstream of HLA-C
• rs2395029, encoding the G2V variant within the Class I HCP5 gene

Mutations in the CARD14 gene have been reported as associated with familial (dominantly inherited) forms of psoriaris, possibly varying by ethnicity:

• rs144475004, aka Asp176His, associated with generalized pustular psoriasis (only) in Asians [PMID 26203641]
• Pityriasis rubra pilaris was associated with three CARD14 mutations [PMID 22703878]:
  • rs387907240, aka Leu156Pro
  • and two mutations lacking rs#'s at this time
• Pustular psoriasis was reported as associated with three other CARD14 mutations [PMID 22521418]:
  • rs281875215, aka Gly117Ser, in a European family
  • rs587777763, aka c.349+5G>A, in a Taiwanese family
  • rs281875214, aka Glu138Ala, in a child with sporadic, early-onset, generalized pustular psoriasis
• Over 14 CARD14 variations were reported in one paper, with varying phenotypes [PMID 22521419]:
  • Reported as likely to be causative for psoriasis:
    • rs281875212, aka Glu142Lys
    • rs281875213, aka Glu142Gly
    • rs281875214, aka Glu138Ala, reported as "the generalized-pustular-psoriasis mutation"

23andMe blog psoriasis Europeans

• rs20541(G) 1.27
• rs610604(G) 1.19
• rs2066808(A) 1.34
• rs2201841(G) 1.13
• rs4112788(G) 1.41

Chinese

• rs1265159(A) 22.62 Proxy SNP for rs1265181
• rs3213094(C) 1.28
• rs4085613(G) 1.32

SNPs that have been reported other than these include:

• rs887466
• rs4379333
• rs734232
• The ACE gene I/D SNPs; see rs4340 for example
• rs11209026, in the IL23R gene
• rs6887695, in the IL12B gene
• rs7993214, on ch 13q13
• rs6701216
• rs3803369, on ch 15q21

[PMID 25009230] Intraindividual genome expression analysis reveals a specific molecular signature of psoriasis and eczema, based on expression of CCL27 and NOS2