title: Genetic variant in interleukin-18 is associated with idiopathic recurrent miscarriage in Chinese Han population.
abstract: Levels of IL-18 were significantly lower in women with recurrent miscarriage (RM) than those without idiopathic RM. IL-18 promoter single nucleotide polymorphisms were previously identified to have an impact on IL18 gene transcription activity and influence the level of IL-18 protein production. The aim of this study was to evaluate whether IL-18 gene polymorphisms are risk factors for idiopathic RM in Chinese Han population. Study subjects comprised of 484 idiopathic RM patients and 468 controls. Three polymorphisms (rs360717, rs187238, rs1946518) in IL-18 gene and serum IL-18 concentrations were assessed. rs187238 variant exhibits significant association with RM in additive and recessive genetic model (additive model p = 1.05 × 10(-4), dominant model p = 0.025, recessive model p = 2.43 × 10(-5)). In contrast, rs360717 and rs1946518 are not significantly associated with RM. Serum IL-18 levels are significantly lower in RM cases than in control (111.98 ± 93.13 versus 148.74 ± 130.51 pg/mL, p = 7.42 × 10(-7)). There are lower levels of serum IL-18 in rs187238 homozygous mutant (CC) than homozygous wild-type (GG) in this study population, including cases and control groups (98.31 ± 86.46 versus 131.87 ± 115.02 pg/mL, p = 0.015). These results suggest that reduced IL-18 levels and rs187238 variant may contribute to pathogenesis of idiopathic RM in Chinese Han population.
authors.affiliation: Department of Gynecology & Obstetrics, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, No. 32, Section 2, the Western First Round Road, Chengdu 610072, China. yuejunlinda@sina.com.
authors.forename: Jun
authors.initials: J
authors.lastname: Yue
authors.affiliation: Laboratory of Early Developmental and Injuries, West China Institute of Woman and Children's Health, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renmin Nanlu, Chengdu 610072, China. toyuer@gmail.com.|Key Laboratory of Gynecologic & Obstetric and Pediatric Diseases and Birth Defects of Ministry of Education, Chengdu 610072, China. toyuer@gmail.com.
authors.forename: Yu
authors.initials: Y
authors.lastname: Tong
authors.affiliation: Department of Laboratory Medicines, West China Hospital, Sichuan University, No. 37, Guo Xue Xiang, Chengdu 610072, China. zhoujing@163.com.
authors.forename: Jing
authors.initials: J
authors.lastname: Zhou
authors.affiliation: Laboratory of Early Developmental and Injuries, West China Institute of Woman and Children's Health, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renmin Nanlu, Chengdu 610072, China. Liuqingqing@163.com.|Key Laboratory of Gynecologic & Obstetric and Pediatric Diseases and Birth Defects of Ministry of Education, Chengdu 610072, China. Liuqingqing@163.com.
authors.forename: Qingqing
authors.initials: Q
authors.lastname: Liu
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, No. 32, Section 2, the Western First Round Road, Chengdu 610072, China. yangjiyun@yeah.net.|School of Medicine, University of Electronic Science and Technology of China, No. 32, Section 2, the Western First Round Road, Chengdu 610072, China. yangjiyun@yeah.net.
authors.forename: Jiyun
authors.initials: J
authors.lastname: Yang
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics* / Q000473:pathology; D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D002681:China; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D020382:Interleukin-18 / Q000097:blood / Q000235:genetics*; D016015:Logistic Models; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D012307:Risk Factors
chemical_list: D020382:Interleukin-18