RESUMEN
OBJECTIVE: A steep rise in the incidence of autoimmune diseases over the decades has been observed, which is simply not explainable with population-level genetic changes, indicating thereby that environmental factors play an important role in their causation. Then again, how air pollution affects the immune system is still not completely elucidated. This study intends to check the presence of autoantibodies and inflammatory markers in normal adults residing for more than 10 years in a highly polluted region. METHODS: In this observational cross-sectional study design, 1,500 subjects residing in Delhi, India, for more than 10 years were screened, of whom 500 were recruited for the study. Distance from the main road to an individual's house was calculated, which was taken as a proxy for traffic pollution exposure. These subjects were analyzed for autoantibodies and inflammatory markers. RESULTS: The mean age of our cohort was 31.0±8.3 years. Autoantibody positivity was observed in 18% of the subjects, whereas inflammatory markers were elevated in 68% of the subjects. Subjects residing within 200 m of the main road had a higher prevalence of autoantibodies antinuclear antibody (12.5% vs 6.5% p=0.03) and rheumatoid factor (9.6% vs 4.5% p=0.02) than the subjects residing at or more than 250 m away from the main road. CONCLUSION: A total of 18% of normal subjects had autoantibody positivity. The odds of developing antinuclear antibodies were twice higher in subjects who resided within 200 m of the main road where the exposure to pollution was higher.
RESUMEN
Polycystic ovary syndrome (PCOS) is the most common and a complex female endocrine disorder, and is one of the leading cause of female infertility. Here, we aimed to investigate the association of single-nucleotide polymorphism of INS, INSR, IRS1, IRS2, PPAR-G and CAPN10 gene in the pathogenesis of PCOS. A hospital-based, observational case-control study was carried on 169 PCOS and 169 control women in the southern region of India. Genotype was carried out by real-time polymerase chain reaction. A chi-square (χ2) test was performed and the genotypes were verified to comply with the Hardy- Weinberg equilibrium. Odds ratio and 95% confidence interval were calculated to assess the relative risk. Comparison of clinical characteristics of women with PCOS and controls reveal an increase in body mass index (BMI), luteinizing hormone / follicle stimulating hormone (LH/FSH) ratio, glucose levels, insulin, testosterone, hirsutism and antral follicular count in PCOS women. The variant rs1801278 (P = 0.002; OR = 2.88; 95% CI = 1.43, 5.80) show an association with PCOS. In the genotypic (P = 0.0002) and allelic models (P = 0.000), significance persisted even after Bonferroni correction. The genotypes of SNPs strongly influence BMI, LH, LH/FSH ratio, ovarian volume and antral follicular count in PCOS women. The study results were suggestive of a positive association between Gly972Arg of IRS1 and PCOS in the south Indian population, while INS, IRS2, PPAR-G and CAPN10 failed to show any association with PCOS in our studied population. Further studies focussing the role of IRS1 are warranted to delineate its implication towards PCOS.
Asunto(s)
Calpaína/genética , Proteínas Sustrato del Receptor de Insulina/genética , Insulina/genética , PPAR gamma/genética , Síndrome del Ovario Poliquístico/genética , Polimorfismo de Nucleótido Simple , Receptor de Insulina/genética , Adulto , Alelos , Biomarcadores , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Persona de Mediana Edad , Oportunidad Relativa , Fenotipo , Síndrome del Ovario Poliquístico/sangre , Adulto JovenRESUMEN
BACKGROUND: Polycystic ovary syndrome must be recognized as a serious issue due to its implication on long term health regardless of an individual's age. PCOS and insulin resistance are interlinked, as approximately 40 % of women with PCOS are insulin resistant. However, the detailed molecular basis for insulin resistance that is coupled with PCOS remains poorly understood. OBJECTIVE: To review the published evidence that polymorphisms in genes that are involved in insulin secretion and action are associated with an increased risk of PCOS. METHODS: We reviewed articles published through November 2012 which concerned polymorphisms of genes related to insulin signaling and glucose homeostasis as well as their associations with PCOS. The articles were identified via Medline searches. CONCLUSIONS: No consistent evidence emerged of a strong association between the risk of PCOS and any known gene that is related to insulin signaling and glucose homeostasis. Moreover, recent genome-wide association studies are inconsistent in identifying the associations between PCOS and insulin metabolism genes. Many of the studies reviewed were limited by heterogeneity in the PCOS diagnosis and by not have having a sufficient number of study participants. Further studies are warranted to determine predisposing risk factors which could modify environmental factors and thus reduce the risk of PCOS. Large genome-wide association studies devoted solely to PCOS will be necessary to identify new candidate genes and proteins that are involved in PCOS risk.
