RESUMEN
The etiology of recurrent miscarriage (RM) is extremely heterogeneous, including genetic, immunologic, anatomic, endocrinological, and infectious anomalies. About 50% of RM is unexplained or poorly understood, which is called idiopathic recurrent miscarriage (IRM). The primary aim of this study was to identify the genetic loci that might be susceptible to IRM. Forty-four Han Chinese patients with IRM during the first trimester of their pregnancies and 44 healthy sex- and ethnic-matched controls were enrolled in this study. A case-control and genome-wide study was performed and 430 polymorphic microsatellite markers were analyzed. Three loci, 6q27 (D6S446, P = .028), 9q33.1 (D9S1776, P = .037), and Xp22.11 (DXS1226, P = .008), significantly associated with IRM were found. This work identified 3 genetic regions that might harbor genes predisposed to IRM and provided new insights for future genetic and etiological study of IRM. Further study is required to confirm it.
Asunto(s)
Aborto Habitual/genética , Polimorfismo Genético , Estudios de Casos y Controles , China , Etnicidad/genética , Femenino , Sitios Genéticos , Marcadores Genéticos , Estudio de Asociación del Genoma Completo , Humanos , Proyectos Piloto , Factores de RiesgoRESUMEN
Objective To study the genotype distribution of insulin receptor substrate-2(IRS-2)gene 1057G/A polymorphism in Han population from Southwest China,and to explore its association with the metabolism of glucose and lipids,insulin resistance and islet?-cell function in type 2 diabetic patients and subjects with impaired glucose tolerance(IGT).Methods A total of 929 Hans[462 patients with type 2 diabetes(DM group) and 164 subjects with IGT(IGT group)and 303 normal controls(NC group)]from Chongqing and nearby regions were screened for 1057G/A polymorphism of IRS-2 gene by PCR-RFLP assay.Body mass index(BMI),plasma glucose,serum insulin and lipid profile,high-sensitive C-reactive protein(hsCRP)and non-esterified fatty acid were measured.Homeostasis model assessment of insulin resistance(HOMA-IR)and disposition index(DI)were used to estimate insulin resistance and?-cell function respectively.Results In DM group,A allele frequency was significantly lower than that in NC group(0.326 vs 0.388,X~2=6.19,P=0.01).Compared with NC group,AA genotype frequeney was lower and GG genotype frequeney was higher in DM group(0.104 vs 0.135 and 0.452 vs 0.360 respectively,X~2=6.80,P