Please use this identifier to cite or link to this item: http://nopr.niscair.res.in/handle/123456789/33096
Title: Association of estrogen receptor 1 (ESR1) haplotypes with risk for systemic lupus erythematosus among South Indians
Authors: Rupasree, Yedluri
Naushad, Shaik Mohammad
Rajasekhar, Liza
Uma, Addepally
Kutala, Vijay Kumar
Keywords: Genetic polymorphisms;IFN-α;Interferons;Interleukins;IL-10;IL-12;TNF-α
Issue Date: Nov-2015
Publisher: NISCAIR-CSIR, India
Abstract: Systemic lupus erythematosus (SLE) is a complex autoimmune disorder involving genetic, epigenetic and environmental factors and has higher incidence in women. In this study, we explored the association of estrogen receptor 1 (ESR1) rs2234693 (PvuII) and rs9340799 (XbaI) polymorphisms with susceptibility to SLE. PCR-RFLP and ELISA were used for genetic analysis and determination of specific autoantibodies, respectively. The univariate analysis showed no independent association of rs2234693 (OR: 1.14, 95% CI: 0.87 - 1.49, p = 0.36) and rs9340799 (OR: 0.87, 95% CI: 0.66-1.14, p = 0.34). The haplotype analysis using SHEsis platform revealed strong linkage disequilibrium between these two polymorphisms (D': 0.81, r2: 0.55). Among the four haplotype groups, the C-A haplotype (rs2234693-rs9340799) was strongly associated with the risk for SLE (OR: 2.10, 95% CI: 1.32 - 3.34, p = 0.001). The homozygous variant genotype of rs2234693 exhibited elevated TNF-α and depleted IFN-α, while the effects of rs9340799 were contradictory. The wild genotype of rs2234693 exhibited lower levels of IL-12 with number of rs9340799 variant alleles pronouncing this effect. From this study, it is concluded that the ESR1 haplotypes may influence the Th2 cytokine profile and susceptibility to SLE among the South Indians.
Page(s): 714-718
URI: http://hdl.handle.net/123456789/33096
ISSN: 0975-1009 (Online); 0019-5189 (Print)
Appears in Collections:IJEB Vol.53(11) [November 2015]

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