IRF5, PTPN22, CD28, IL2RA, KIF5A, BLK and TNFAIP3 genes polymorphisms and lupus susceptibility in a cohort from the Egypt Delta; relation to other ethnic groups

Ashraf A Elghzaly; Shereen S Metwally; Farha A El-Chennawi; Maha A Elgayaar; Youssef M Mosaad; Ehab E El-Toraby; Mohsen M Hegab; Saleh M Ibrahim

doi:10.1016/j.humimm.2015.06.001

IRF5, PTPN22, CD28, IL2RA, KIF5A, BLK and TNFAIP3 genes polymorphisms and lupus susceptibility in a cohort from the Egypt Delta; relation to other ethnic groups

Hum Immunol. 2015 Jul;76(7):525-31. doi: 10.1016/j.humimm.2015.06.001. Epub 2015 Jun 17.

Authors

Ashraf A Elghzaly¹, Shereen S Metwally², Farha A El-Chennawi³, Maha A Elgayaar⁴, Youssef M Mosaad⁵, Ehab E El-Toraby⁶, Mohsen M Hegab⁷, Saleh M Ibrahim⁸

Affiliations

¹ Clinical Pathology Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt. Electronic address: drashrafantar@mans.edu.eg.
² Clinical Pathology Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt. Electronic address: shereen_salah@ymail.com.
³ Clinical Pathology Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt. Electronic address: dr_farha@mans.edu.eg.
⁴ Dermatology and Andrology Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt. Electronic address: elgayar_m@yahoo.com.
⁵ Clinical Pathology Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt. Electronic address: youssefmosaad@yahoo.com.
⁶ Internal Medicine Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt. Electronic address: Ehabeltoraby@yahoo.com.
⁷ Molecular Medicine Group, Department of Reproductive Medicine, Division of Medical Research, National Research Center, Egypt. Electronic address: mohsenhegab@gmail.com.
⁸ Dermatology Department, Lübeck University, Lübeck, Germany. Electronic address: Saleh.Ibrahim@uksh.de.

PMID: 26092158
DOI: 10.1016/j.humimm.2015.06.001

Abstract

Objective: To replicate a single nucleotide polymorphism (SNP) of known genes for lupus (IRF5 rs10488631, PTPN22 rs2476601, BLK rs2736340 and TNFAIP3 rs5029939) and other autoimmune diseases (CD28 rs1980422, IL2RA rs2104286 and KIF5A rs1678542) on a newly studied Egyptian cohort to investigate the genetic disparity with different studied ethnic groups in relation to lupus susceptibility.

Methods: 170 Egyptian patients from Egypt Delta with SLE and 241 matched healthy controls were genotyped by Taqman real time PCR for the selected SNPs.

Results: The results revealed significant association with IRF5 (p<0.0001) and PTPN22 (p=0.008) and insignificant association with KIF5A, CD28, IL2RA, BLK and TNFAIP3 genes.

Conclusions: This study may provide an additional evidence for the association between IRF5 and PTPN22 and lupus susceptibility and may exclude it for CD28, IL2RA, and KIF5A.

Keywords: Association; Egyptians; Ethnicity; Genetics; Lupus.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

CD28 Antigens / genetics
Case-Control Studies
DNA-Binding Proteins / genetics
Genetic Predisposition to Disease*
Humans
Interferon Regulatory Factors / genetics
Interleukin-2 Receptor alpha Subunit / genetics
Intracellular Signaling Peptides and Proteins / genetics
Kinesins / genetics
Lupus Erythematosus, Systemic / ethnology
Lupus Erythematosus, Systemic / etiology
Lupus Erythematosus, Systemic / genetics*
Nuclear Proteins / genetics
Polymorphism, Single Nucleotide*
Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics
Tumor Necrosis Factor alpha-Induced Protein 3
src-Family Kinases / genetics

Substances

CD28 Antigens
DNA-Binding Proteins
IRF5 protein, human
Interferon Regulatory Factors
Interleukin-2 Receptor alpha Subunit
Intracellular Signaling Peptides and Proteins
KIF5A protein, human
Nuclear Proteins
BLK protein, human
src-Family Kinases
PTPN22 protein, human
Protein Tyrosine Phosphatase, Non-Receptor Type 22
TNFAIP3 protein, human
Tumor Necrosis Factor alpha-Induced Protein 3
Kinesins