本文選題：肥胖 + 配對盒基因　； 參考：《臨床兒科雜志》2017年12期

【摘要】：目的研究配對盒4(PAX4)基因rs3824004(574CA;R192S)、rs2233580(575GA;R192H)多態(tài)性與兒童青少年肥胖及代謝指標的相關(guān)性。方法隨機選取103例肥胖兒童,平均年齡(10.82±2.57)歲,體質(zhì)指數(shù)(BMI)(26.82±4.57)kg/m2;同期體檢的100例正常體質(zhì)量兒童為對照組,年齡(10.60±2.84)歲,BMI(16.79±2.13)kg/m2。測量并比較兩組血壓、體格指標以及血代謝指標。肥胖組兒童行口服葡萄糖耐量試驗(OGTT)和胰島素釋放試驗,計算穩(wěn)態(tài)模型胰島素抵抗指數(shù)(HOMA-IR)和總體胰島素敏感指數(shù)(WBISI)。應(yīng)用聚合酶鏈反應(yīng)(PCR)檢測PAX4 rs3824004、rs 2233580多態(tài)性,分析多態(tài)位點的等位基因頻率和基因型頻率及組間差異,以及不同基因型與代謝指標的相關(guān)性。結(jié)果肥胖組的身高、體質(zhì)量、BMI、收縮壓、舒張壓、腰圍、臀圍、腰圍身高比(WHt R)、空腹血糖(FPG)、總膽固醇(TC)、低密度脂蛋白(LDL)、三酰甘油(TG)、丙氨酸轉(zhuǎn)氨酶(ALT)及天冬氨酸轉(zhuǎn)氨酶(AST)均高于對照組,高密度脂蛋白(HDL)低于對照組;差異均有統(tǒng)計學意義(P0.05)�；蚍植碱l率符合Hard-Weinberg平衡,rs3824004肥胖組和對照組的A等位基因頻率分別為4.9%和5.0%,CA基因型頻率分別為9.7%和10.0%;兩組差異均無統(tǒng)計學意義(P0.05)。rs 2233580肥胖組的GA基因型頻率為25.2%,高于對照組(11.0%);A等位基因頻率為12.6%,也高于對照組(5.5%),差異均有統(tǒng)計學意義(P0.05)。rs2233580 GA基因型的BMI及腰圍高于GG基因型,差異均有統(tǒng)計學意義(P0.05),但logistic回歸分析顯示PAX 4 rs 2233580基因型與代謝指標并無相關(guān)性(P均0.05)。肥胖組PAX 4 rs 2233580不同基因型間HOMA-IR和WBISI差異無統(tǒng)計學意義(P均0.05)。結(jié)論 PAX 4 rs 2233580影響B(tài)MI及腰圍,可能參與兒童肥胖的發(fā)生,但不是兒童青少年肥胖發(fā)生的獨立影響因素。
[Abstract]:Objective to study the association between polymorphism of pairing box 4 (PAX4) gene rs3824004 (574CAR19s) rs2233580 (575GAANGR19H) and obesity and metabolism in children and adolescents. Methods 103 obese children with average age of (10.82 鹵2.57) years and BMI (BMI) of (26.82 鹵4.57) kg / m ~ (2) were randomly selected as control group, and 100 healthy children with BMI (16.79 鹵2.13) kg 路m ~ (2) of age (10.60 鹵2.84) years were selected as control group. Blood pressure, physical parameters and blood metabolism were measured and compared between the two groups. Oral glucose tolerance test (OGTT) and insulin release test were performed in obese children. The homeostasis model insulin resistance index (HOMA-IR) and total insulin sensitivity index (WBISI) were calculated. The polymorphism of PAX4 rs3824004 rs3824004rrs 2233580 was detected by polymerase chain reaction (PCR). The allelic frequency, genotypic frequency and differences among groups of polymorphic loci were analyzed, as well as the correlation between different genotypes and metabolic indexes. Results the height, body mass, systolic blood pressure, diastolic blood pressure, waist circumference, hip circumference of obesity group, The waistline height ratio (WHTR), fasting blood glucose (FPG), total cholesterol (TC), low density lipoprotein (LDL), triglyceride (TG), alanine aminotransferase (alt) and aspartate aminotransferase (AST) were higher than those in the control group, and high density lipoprotein (HDL) was lower than the control group (P0.05). The frequencies of A allele in the obese group and control group were 4.9% and 5.0%, respectively, and the frequencies of CA genotype were 9.7% and 10.0, respectively. There was no significant difference between the two groups (P0.05). In the control group (11.0%), the allele frequency was 12.6%, which was higher than that in the control group (5.5%). The difference was statistically significant (P0.05). The BMI and waist circumference of the GA genotype was higher than that of the GG genotype. The difference was statistically significant (P0.05), but the logistic regression analysis showed that there was no correlation between the genotype of PAX4rs 2233580 and the metabolic index (P0. 05). There was no significant difference in HOMA-IR and WBISI between different genotypes of PAX4 rs 2233580 in obese group (P 0.05). Conclusion PAX4rs 2233580 may play an important role in the development of obesity in children, but it is not an independent factor of obesity in children and adolescents.
【作者單位】： 浙江大學醫(yī)學院附屬第一醫(yī)院兒科;
【基金】：國家自然科學基金面上項目(No.11571309) 國家重點研發(fā)計劃重大慢性非傳染性疾病防控研究(No.2016YFC1305301)
【分類號】：R723.14

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