Interleukin 1 beta (IL-1β) promoter C [−511] T polymorphism but not C [+3953] T polymorphism is associated with polycystic ovary syndrome

Abstract

PCOS is a complex multifactorial disorder involving a number of genetic and environmental factors. One of the genetic factors that has been associated with PCOS is Interleukin 1 beta (IL-1β), is an important inflammatory cytokine that plays a regulatory role in both the body's immune and the inflammatory responses. All these responses appear to be are also affected in at least some women with PCOS. To investigate the possible association of polymorphisms of the IL-1β gene with the occurrence and clinical characteristics of PCOS, we evaluated two common polymorphisms of the IL-1β gene (promoter C [-511] T and exon 5 position [+3953]) in 200 Chinese women with PCOS and 177 healthy Chinese controls. We found the frequency of IL-1β C/C [-511] genotype in PCOS was significantly higher than that in the controls (χ(2) = 15.48, df = 1, P < 0.001 OR = 2.73 95% CI: 1.64-4.56 by genotype; χ(2) = 10.21, df = 1, P = 0.001 by allele). However in contrast, no association between genotype and relative allele frequencies was observed for the C [+3953] T polymorphism for Chinese women with PCOS when compared to that for a similar group of Chinese women without PCOS (P = 0.35).

Associations between TNF-α and interleukin gene polymorphisms with polycystic ovary syndrome risk: a systematic review and meta-analysis

“…Eight publications were excluded for insufficient or uncorrelated data according to our inclusion criteria [9,11,10,14,13,23,24,30]. Finally, 18 articles met the inclusion criteria and were selected [8,7,27,12,28,18,15,17,20,19,22,21,25,26,29,31,16]. The study selection process is shown in Fig.…”

“…For IL-1A -889C>T (rs1800587), 310 cases and 279 controls from 2 studies [25,20] were analyzed. For IL-1B -511C>T (rs16944), we looked at 482 cases and 421 controls from 4 studies [25,8,18,16]. For the IL-1B +3953C>T polymorphism (rs1143634) in exon 5, 223 cases and 188 controls from 2 studies were included [18,25].…”

Effects of polymorphisms in gonadotropin and gonadotropin receptor genes on reproductive function

“…Indeed, recent studies have identified several genes that might be relevant in PCOS pathogenesis [14], such as anti-Müllerian hormone [82,83]; gonadotropin-releasing hormone [71], aromatase [84], androgen receptors [85], 17β-hydroxysteroid dehydrogenase type 5 and type 6 [86], interleukins [87,88], vascular endothelial growth factor [89] or genes involved in folliculogenesis [90].…”

Common Genetic Aspects Between Polycystic Ovary Syndrome and Diabetes Mellitus

“…Italian [171] Turkish [172,173] HLA-A (6p21.3, major histocompatibility complex class I, A) A11 Japanese [174] HLA-B (6p21.3, major histocompatibility complex class I, B) B39 Japanese [174] HLA-C (6p21.3, major histocompatibility complex class I, C) All alleles Japanese [174] HLA-DRB1 (6p21.3, major histocompatibility complex class I, DR beta 1) *0403 Japanese [174] HFE (6p21.3, haemochromatosis protein) rs1799945, rs1800562 Spanish [175] HMGCR (5q13.3-q14, HMG-CoA reductase) rs4629571 North American [176] IL1A (2q14, interleukin 1 ) rs1800587 Austrian [177] Chinese [178] rs16944 Chinese [179,180] Austrian [177] IL1B (2q14, interleukin 1 ) rs1143634…”

“…Chinese [179] Austrian [177] Chinese [180] IL1R ( 2q12, interleukin 1 receptor) VNTR Chinese [111] rs1800797 Spanish [181] rs1800796 Spanish [181] …”