Dataset Information

Role of interleukin-10 polymorphisms and haplotypes in polycystic ovary syndrome risk.

ABSTRACT: Polycystic ovary syndrome (PCOS) is one of the most frequently encountered endocrine malfunctions. The etiology of PCOS is complex and unclear. We aimed to investigate the role of three common SNPs (rs1800896, rs1800871 and rs1800872) of IL-10 in the development of PCOS in a Chinese population. We recruited 360 patients with PCOS and 360 healthy controls in this study. SNP genotyping of IL-10 rs1800896, rs1800871 and rs1800872 was implemented in a 384-well plate format on the Sequenom MassARRAY® System (Sequenom, San Diego, USA). Individuals carrying the GG genotype of rs1800872 were associated with an increased risk of PCOS when compared with the AA genotype (OR = 3.04, 95% CI = 1.62-5.69). No linkage disequilibrium was observed among IL-10 rs1800896, rs1800871 and rs1800872. The C-T-A (OR = 1.53, 95% CI = 1.05-2.35) haplotype indicated an increased risk of PCOS, while the A-C-G (OR = 0.72, 95% CI = 0.53-0.98) showed a reduced risk of PCOS. In summary, this study firstly estimates the association between IL-10 polymorphisms and haplotype and PCOS risk in the Chinese population.

SUBMITTER: Xing G

PROVIDER: S-EPMC6965280 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Role of interleukin-10 polymorphisms and haplotypes in polycystic ovary syndrome risk.

Xing Guanlin G Sun Yingpu Y Wang Fang F Gao Guozheng G Zhou Xiaojing X

International journal of clinical and experimental pathology 20170701 7

Polycystic ovary syndrome (PCOS) is one of the most frequently encountered endocrine malfunctions. The etiology of PCOS is complex and unclear. We aimed to investigate the role of three common SNPs (rs1800896, rs1800871 and rs1800872) of IL-10 in the development of PCOS in a Chinese population. We recruited 360 patients with PCOS and 360 healthy controls in this study. SNP genotyping of IL-10 rs1800896, rs1800871 and rs1800872 was implemented in a 384-well plate format on the Sequenom MassARRAY< ...[more]

PMID: 31966646

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Project description:ObjectiveInterleukin-10 (IL-10) is a multifunctional cytokine that exerts both pro- and anti-inflammatory effects on the immune system as well as in the pathogenesis of Guillain-Barré syndrome (GBS). We investigated whether the three common polymorphisms -1082 G/A(rs1800896), -819 C/T(rs1800871), and -592 C/A(rs1800872) in the promoter region of IL-10 have any influence on the susceptibility, severity, and clinical outcome of GBS.MethodsIL-10 promoter polymorphisms were investigated in 152 patients with GBS and 152 healthy controls from Bangladesh using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP), and allele-specific oligonucleotide-PCR (ASO-PCR). Haplotype patterns and frequencies were analyzed using Heatmaply R-package, chi-square, and Fisher's exact test. The serum level of IL-10 was measured through enzyme-linked immunosorbent assays. p-values < 0.05 were considered statistically significant.ResultsIL-10 promoter polymorphisms -1082 G/A, -819 C/T, and -592 C/A were not associated with GBS susceptibility. The homozygous -819 TT genotype showed a tendency with susceptibility (p = 0.029; pc = 0.08) and was prevalent in axonal variants of GBS compared to demyelinating subtypes and controls (p = 0.042, OR = 8.67, 95% CI = 1.03-72.97; pc = 0.123 and p = 0.005, OR = 4.2, 95% CI = 1.55-11.40; pc = 0.015, respectively). Haplotype analysis revealed 19 patterns of genotypes and high IL-10 expression haplotype combinations (GCC/GTA, GCC/ATA, and GCC/GCA) may have influence on disease severity (p = 0.026; pc = 0.078). Serum expression of IL-10 was elevated in GBS patients ([GBS, 12.16 ± 45.71] vs. [HC, 0.65 ± 5.17] pg/mL; p = 0.0027) and varied with disease severity ([severe-GBS, 15.25 ± 51.72] vs. [mild-GBS, 3.59 ± 19.79] pg/mL, p = 0.046).InterpretationThe -819 TT genotypes influence axonal GBS, and high frequency of IL-10 expression haplotype combination with elevated serum IL-10 may play an important role in disease severity.

Project description:The associations between TNF-? and Interleukin gene polymorphisms and polycystic ovary syndrome (PCOS) risk have been studied in numerous epidemiological studies, but the results remain controversial. To investigate whether these polymorphisms facilitate susceptibility to PCOS, we conducted a comprehensive systematic review and meta-analysis.PubMed, Embase, Web of Science, Medline, CNKI, and Google Scholar were searched to obtain the genetic association studies according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Odds ratios (OR) with corresponding 95 % confidence intervals (CI) were used to assess the strengths of the associations. Funnel plots and Egger's tests were performed to test for possible publication bias. All statistical analyses were performed using Review Manager 5.2 and STATA11.0.Eighteen articles were included in the final meta-analysis. The studies involved the following polymorphisms: TNF-? -308G?>?A, TNF-? -805C>T, TNF-? -1031 T>C, IL-1A -889C>T, IL-1B -511C>T, IL-1B +3953 T>C, IL-6 -174G>C, IL-10 -819C>T, IL-10 -1082A>G, IL-18 -607C>A, and IL-18 -137G>C. Our results show a significant association between PCOS risk and the TNF-? -1031 T>C polymorphism (For TC+CC vs. TT: OR=2.09, 95 % CI=1.58-2.76, p<0.0001. For C allele vs. T allele: OR=1.67, 95 % CI=1.33-2.09, p<0.0001) and between PCOS risk and the IL-6 -174>C polymorphism (For CC+GC vs. GG: OR=0.49, 95 % CI=0.25-0.95, p=0.03. For CC vs. GG: OR=0.48, 95 % CI=0.28-0.80, p=0.005. For C vs. G: OR=0.60, 95 % CI=0.42-0.87, p=0.007). No associations were found with the other genetic models.The results of the meta-analysis suggest positive associations between the TNF-? -1031 T>C and IL-6 -174G>C polymorphisms and the risk of PCOS. No associations are found between PCOS risk and the TNF-? -308G>A, TNF-? -805C>T, IL-1A -889C>T, IL-1B -511C>T, IL-1B +3953C>T, IL-10 -819C>T, IL-10 -1082 A>G, IL-18 -607C>A, and IL-18 -137G>C polymorphisms. However, due to the heterogeneity and low quality of the studies related to PCOS polymorphisms in the meta-analysis, the results should be interpreted with caution. Future multi-ethnicity studies of homogeneous populations of PCOS patients with larger sample sizes and well-matched controls are needed.

Dataset Information

Role of interleukin-10 polymorphisms and haplotypes in polycystic ovary syndrome risk.

Publications

Role of interleukin-10 polymorphisms and haplotypes in polycystic ovary syndrome risk.

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