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Association analysis of GWAS and candidate gene loci in a Pakistani population with psoriasis.

Artikel i vetenskaplig tidskrift
Författare Saeeda Munir
Simeen Ber Rahman
Sadia Rehman
Nusrat Saba
Wasim Ahmad
Staffan Nilsson
Kehkashan Mazhar
Åsa Torinsson Naluai
Publicerad i Molecular immunology
Volym 64
Nummer/häfte 1
Sidor 190-4
ISSN 1872-9142
Publiceringsår 2015
Publicerad vid Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik
Institutionen för matematiska vetenskaper, matematisk statistik
Sidor 190-4
Språk en
Länkar dx.doi.org/10.1016/j.molimm.2014.11...
Ämnesord Autoimmunity; Psoriasis; Systemic immunity; Molecular mechanisms; Genetic risk factors; HLA
Ämneskategorier Molekylär medicin (genetik och patologi)

Sammanfattning

Psoriasis is a common inflammatory and hyper proliferative condition of the skin and a serious chronic systemic autoimmune disease. We undertook an association study to investigate the genetic etiology of psoriasis in a Pakistani population by genotyping single-nucleotide polymorphisms (SNPs) previously reported to be associated in genome-wide association (GWAS) or in candidate gene studies of psoriasis. Fifty seven single-nucleotide polymorphisms (SNPs) from 42 loci were genotyped in 533 psoriasis patients and 373 controls. Our results showed genome wide significant association of the MHC region (rs1265181 being the most significant from five SNPs used with overall OR=3.38; p=2.97E-18), as well as nominally significant associations at ten other loci (p<0.05) in the Pakistani population (LCE3B, REL, IL13/IL4, TNIP1, IL12B, TRAF3IP2, ZC3H12C, NOS2 and RNF114 from GWAS and PRR9 from a previous candidate gene study). Overall, only nine SNPs out of the 42 GWAS loci, displayed an odds ratio in the opposite allelic direction and only three did not reach similar odds ratio within 95% confidence interval as previously reported (SLC45A1/TNFRSF9, ELMO1 and IL28RA). This indicates similar genetic risk factors and molecular mechanisms behind disease in Pakistani psoriasis patients as in other populations. In addition, we show that the MHC and TNIP1 regions are significantly different in patients with psoriasis onset before the age of 40 (type I) compared to after 40 years of age (type II). MHC being associated mainly with type I while TNIP1 with type II patients.

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