雄激素受体基因第一外显子CAG重复序列多态性与男性代谢综合征及其组分的相关性
发布时间：2018-08-27 18:17
【摘要】：目的本研究从分子水平和遗传学角度,探讨宁夏地区回汉族人群AR基因CAG重复序列多态性与代谢综合征基因遗传性的关系,同时进一步探讨AR基因CAG重复序列多态性与代谢综合征各组分及相应疾病的相关性。方法本研究以整群抽样的方法对宁夏地区银川市与吴忠市社区居民进行选择,最终依据入组标准共纳入研究对象953名。测量所有研究对象的身高、体重和血压,检测各项生化指标,包括高密度脂蛋白(HDL-C)、总胆固醇(TC)、甘油三酯(TG)、低密底脂蛋白(LDL-C)、空腹血糖(FBG)、空腹胰岛素(FINS)以及各种性激素水平,运用公式分别计算体质量指数(BMI)、游离睾酮(FT)、胰岛素抵抗指数(HOMA-IR)、胰岛素敏感指数(HOMA-IS)和胰岛β细胞功能指数(HOMA-β),基于毛细管电泳法原理,通过3730XL测序仪检测目的片段AR基因CAG重复序列长度,使用Gene Mapper4.1软件识别测序结果。采用SPSS 23.0软件研究对象的的一般人口学和临床资料进行描述,并对AR基因CAG重复序列多态性与代谢综合征基因遗传性及其组成成分的相关性进行统计分析。结果1研究对象的一般情况1.1参照MS的诊断标准,MS患者共317例,占全部研究对象的33.26%;NMS共636例,其中无代谢紊乱人群107例(11.23%),有一种代谢紊乱人群247例(25.92%),有两种代谢紊乱人群282例(29.59%)。1.2与NMS组相比较,MS组的雌二醇(E2)、收缩压(SBP)、舒张压(DBP)、BMI、FBG、HOMA-IR、TG、TC指标增加,总睾酮(TT)、E2/TT、HDL-C、HOMA-IS和HOMA-β均减低。1.3伴随代谢紊乱组分的增加,SBP、DBP、BMI、FBG、HOMA-IR、TG和TC指标增加,HDL-C指标和HOMA-IS减低。2 AR基因第一外显子CAG重复多态性的检测结果及频率分布情况2.1所有研究对象CAG重复多态性的重复数范围是从10到35,平均长度为22.85±2.90,出现频率最高的是22。2.2 MS患者(317例)CAG重复数目最短重复数为14,最长为35,平均长度为22.78±2.96;代谢综合征患者(636例)CAG重复数目最短重复数为10,最长为35,平均长度为22.88±2.87;无代谢紊乱人群(107例)CAG重复数目最短重复数为10,最长为35,平均长度为22.95±3.31;一种代谢紊乱人群(147例)CAG重复数目最短重复数为15,最长为30,平均长度为22.90±2.85;两种代谢紊乱人群(282例)CAG重复数目最短重复数为10,最长为35,平均长度为22.84±2.71。以上各组出现频率最高的均是22。2.3 MS组、NMS组、无代谢紊乱组、一种代谢紊乱组和两种代谢紊乱组各组之间两两比较,AR基因CAG重复数目未见明显差异。3 AR基因第一外显子CAG重复多态性与MS基因遗传性的关系3.1短组(CAG重复数22)中MS患者为99例(36.3%),长组(CAG重复数≥22)中MS患者为218例(32.1%),AR基因CAG重复多态性对MS患病率的无影响。3.2短组(CAG重复数22)中无代谢紊乱共21例(7.7%),一种代谢紊乱共70例(25.6%),两种代谢紊乱共83例(30.4%);长组(CAG重复数≥22)中无代谢紊乱共86例(12.6%),一种代谢紊乱共177例(26.0%),两种代谢紊乱共199例(29.3%)。短组和长组间代谢紊乱组成成分的构成比无差异。4 AR基因第一外显子上CAG重复多态性与性激素水平、MS组分的相关性4.1 A R基因CAG重复次数与各性激素水平均不具有相关性;AR基因CAG重复数长组和短组之间各激素水平的均无差异。4.2 A R基因CAG重复次数与SBP和HDL-C显著相关,CAG重复次数与SBP呈负相关,此相关性独立于年龄、BMI、TT和FBG对SBP的影响之外;AR基因CAG重复次数与血清HDL-C水平呈显著正相关,此相关性独立于BMI、TG和TC对HDL-C的影响之外。AR基因CAG重复次数与DBP、TC、TG、LDL-C、FBG、FINS、HOMA-IR、HOMA-IS和HOMA-β均无相关性。4.3 C AG重复数22组的SBP明显高于CAG重复数≥22组,而CAG重复数22组HDL-C显著低CAG重复数≥22长组。而两组之间DBP、TC、TG、LDL-C、FBG、FINS、HOMA-IR、HOMA-IS和HOMA-β均无差异。4.4短组(CAG重复数22)中高血压患者为194例(71.1%),长组(CAG重复数≥22)中高血压患者为414例(60.9%),CAG重复数22组有更高的高血压患病率;经多因素Logistic回归分析,AR基因CAG重复数为高血压发生的影响因素,且AR基因CAG重复数22的人发生高血压的危险度是AR基因CAG重复数≥22的人的1.4倍。CAG重复数长短组对HDL-C或TG异常、超重及(或)肥胖、糖尿病以及高血糖的发生率均无影响。结论AR基因CAG重复多态性在无代谢紊乱组、一种代谢紊乱组、两种代谢紊乱组、MS组和NMS组的频率分布情况基本一致,AR基因CAG重复多态性与MS的基因遗传性无相关性;AR基因CAG重复序列长度与MS各组分的相关分析显示,AR基因CAG重复序列长度与HDL-C水平呈正相关,而与SBP水平呈负相关,校正年龄影响因素后,其相关性仍然存在;AR基因CAG重复长度不同分组间,HDL-C、SBP水平存在差异,CAG重复数22会引起HDL-C水平的降低和SBP水平的升高;AR基因CAG重复序列长度与MS各组分异常相应疾病的相关分析显示,AR基因CAG重复数22组高血压的患病率明显高于CAG重复≥22组,AR基因CAG重复数22的人发生高血压的危险度是AR基因CAG重复数≥22的人的1.4倍。
[Abstract]:Objective To explore the relationship between the CAG repeat polymorphism of AR gene and the inheritance of metabolic syndrome gene in Hui and Han population in Ningxia from the molecular level and genetics, and to explore the relationship between the CAG repeat polymorphism of AR gene and the components of metabolic syndrome and the corresponding diseases. Methods 953 residents in Yinchuan and Wuzhong communities in Ningxia were selected and enrolled in the study according to the enrollment criteria. Height, weight and blood pressure were measured, and biochemical parameters including high density lipoprotein (HDL-C), total cholesterol (TC), triglyceride (TG), low density lipoprotein (LDL-C), fasting blood glucose (FBG) were measured. Body mass index (BMI), free testosterone (FT), insulin resistance index (HOMA-IR), insulin sensitivity index (HOMA-IS) and islet beta cell function index (HOMA-beta) were calculated by using the formula. Based on the principle of capillary electrophoresis, the target fragment of AR gene CAG was detected by 3730XL sequencer. The length of repeat sequence was identified by Gene Mapper 4.1 software. The general demographic and clinical data of the subjects were described by SPSS 23.0 software. The correlation between the CAG repeat polymorphism of AR gene and the inheritance of metabolic syndrome gene and its components was statistically analyzed. Status 1.1 According to the diagnostic criteria of MS, there were 317 patients with MS, accounting for 33.26% of all subjects; 636 patients with NMS, including 107 patients without metabolic disorders (11.23%), 247 patients with one metabolic disorder (25.92%) and 282 patients with two metabolic disorders (29.59%). Increased HOMA-IR, TG, TC, total testosterone (TT), E2/TT, HDL-C, HOMA-IS and HOMA-beta were all decreased.1.3 With the increase of metabolic disorder components, increased SBP, DBP, BMI, FBG, HOMA-IR, TG and TC, decreased HDL-C and HOMA-IS. 2.1 CAG repeat polymorphism and frequency distribution of the first exon of AR gene were detected in all subjects. The average length of CAG repeats ranged from 10 to 35, with the highest frequency of 22.2.2 MS (317 cases) and the shortest, longest and average length of CAG repeats ranged from 14 to 35. The shortest, longest and average length of CAG repeats ranged from 10 to 35 in patients with metabolic syndrome (636 cases). The shortest number of CAG repeats was 10, the longest was 35, and the average length was 22.95 (+ 3.31); the shortest number of CAG repeats was 15, the longest was 30, and the average length was 22.90 (+ 2.85) in one metabolic disorder group (147); the shortest number of CAG repeats was 10, the longest was 35, and the average length was 32.90 (+ 2.85) in two metabolic disorders groups (282). The highest frequency was 22.2.3 MS group, NMS group, no metabolic disorder group, one metabolic disorder group and two metabolic disorder groups. There was no significant difference in the number of CAG repeats in AR gene. 3 The relationship between CAG repeat polymorphism in the first exon of AR gene and the inheritance of MS gene was 3.1 short group (CAG repeat). Among the 22 patients, 99 (36.3%) had MS, and 218 (32.1%) had MS in the long group (CAG repeats (> 22). There was no effect of CAG repeat polymorphism on the prevalence of MS. 21 (7.7%) had no metabolic disorder in the short group (CAG repeats 22), 70 (25.6%) had one metabolic disorder, 83 (30.4%) had two metabolic disorders, and no generation in the long group (CAG repeats (> 22). There were 86 cases (12.6%) with metabolic disorders, 177 cases (26.0%) with one metabolic disorder and 199 cases (29.3%) with two metabolic disorders. The CAG repeats of AR gene were significantly correlated with SBP and HDL-C. The CAG repeats of AR gene were negatively correlated with SBP, independent of age, BMI, TT and FBG. The CAG repeats of AR gene were positively correlated with serum HDL-C levels. The correlation was independent of the effects of BMI, TG and TC on HDL-C. The number of CAG repeats of AR gene was not correlated with DBP, TC, TG, LDL-C, FBG, FINS, HOMA-IR, HOMA-IS and HOMA-beta. The number of SBP in 22 groups of HOMA-IS repeats was significantly higher than that in 22 groups of CAG repeats, while the number of HDL-C repeats in 22 groups of CAG repeats was significantly lower than that in 22 groups of CAG repeats. There was no significant difference among - C, FBG, FINS, HOMA - IR, HOMA - IS and HOMA - beta. Among the short group (CAG repeats 22), 194 (71.1%) were hypertensive, 414 (60.9%) were hypertensive in the long group (CAG repeats more than 22), and 22 (CAG repeats more than 22) had a higher prevalence of hypertension. The risk of hypertension was 1.4 times higher in patients with CAG repeat 22 of AR gene than in those with CAG repeat 22 of AR gene. The length of CAG repeat had no effect on the incidence of HDL-C or TG abnormalities, overweight and/or obesity, diabetes mellitus and hyperglycemia. There was no correlation between the CAG repeat polymorphism of AR gene and the genetic inheritance of MS. The correlation analysis between the CAG repeat length of AR gene and the components of MS showed that the CAG repeat length of AR gene was positively correlated with HDL-C level, but negatively correlated with SBP level. The correlation between the CAG repeat length of AR gene and the disease related to the abnormal components of MS showed that the prevalence of hypertension was significant in 22 groups of AR gene CAG repeat length. The risk of hypertension was 1.4 times higher in group 22 than in group 22.
【学位授予单位】：宁夏医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R589
本文编号：2208055
[Abstract]:Objective To explore the relationship between the CAG repeat polymorphism of AR gene and the inheritance of metabolic syndrome gene in Hui and Han population in Ningxia from the molecular level and genetics, and to explore the relationship between the CAG repeat polymorphism of AR gene and the components of metabolic syndrome and the corresponding diseases. Methods 953 residents in Yinchuan and Wuzhong communities in Ningxia were selected and enrolled in the study according to the enrollment criteria. Height, weight and blood pressure were measured, and biochemical parameters including high density lipoprotein (HDL-C), total cholesterol (TC), triglyceride (TG), low density lipoprotein (LDL-C), fasting blood glucose (FBG) were measured. Body mass index (BMI), free testosterone (FT), insulin resistance index (HOMA-IR), insulin sensitivity index (HOMA-IS) and islet beta cell function index (HOMA-beta) were calculated by using the formula. Based on the principle of capillary electrophoresis, the target fragment of AR gene CAG was detected by 3730XL sequencer. The length of repeat sequence was identified by Gene Mapper 4.1 software. The general demographic and clinical data of the subjects were described by SPSS 23.0 software. The correlation between the CAG repeat polymorphism of AR gene and the inheritance of metabolic syndrome gene and its components was statistically analyzed. Status 1.1 According to the diagnostic criteria of MS, there were 317 patients with MS, accounting for 33.26% of all subjects; 636 patients with NMS, including 107 patients without metabolic disorders (11.23%), 247 patients with one metabolic disorder (25.92%) and 282 patients with two metabolic disorders (29.59%). Increased HOMA-IR, TG, TC, total testosterone (TT), E2/TT, HDL-C, HOMA-IS and HOMA-beta were all decreased.1.3 With the increase of metabolic disorder components, increased SBP, DBP, BMI, FBG, HOMA-IR, TG and TC, decreased HDL-C and HOMA-IS. 2.1 CAG repeat polymorphism and frequency distribution of the first exon of AR gene were detected in all subjects. The average length of CAG repeats ranged from 10 to 35, with the highest frequency of 22.2.2 MS (317 cases) and the shortest, longest and average length of CAG repeats ranged from 14 to 35. The shortest, longest and average length of CAG repeats ranged from 10 to 35 in patients with metabolic syndrome (636 cases). The shortest number of CAG repeats was 10, the longest was 35, and the average length was 22.95 (+ 3.31); the shortest number of CAG repeats was 15, the longest was 30, and the average length was 22.90 (+ 2.85) in one metabolic disorder group (147); the shortest number of CAG repeats was 10, the longest was 35, and the average length was 32.90 (+ 2.85) in two metabolic disorders groups (282). The highest frequency was 22.2.3 MS group, NMS group, no metabolic disorder group, one metabolic disorder group and two metabolic disorder groups. There was no significant difference in the number of CAG repeats in AR gene. 3 The relationship between CAG repeat polymorphism in the first exon of AR gene and the inheritance of MS gene was 3.1 short group (CAG repeat). Among the 22 patients, 99 (36.3%) had MS, and 218 (32.1%) had MS in the long group (CAG repeats (> 22). There was no effect of CAG repeat polymorphism on the prevalence of MS. 21 (7.7%) had no metabolic disorder in the short group (CAG repeats 22), 70 (25.6%) had one metabolic disorder, 83 (30.4%) had two metabolic disorders, and no generation in the long group (CAG repeats (> 22). There were 86 cases (12.6%) with metabolic disorders, 177 cases (26.0%) with one metabolic disorder and 199 cases (29.3%) with two metabolic disorders. The CAG repeats of AR gene were significantly correlated with SBP and HDL-C. The CAG repeats of AR gene were negatively correlated with SBP, independent of age, BMI, TT and FBG. The CAG repeats of AR gene were positively correlated with serum HDL-C levels. The correlation was independent of the effects of BMI, TG and TC on HDL-C. The number of CAG repeats of AR gene was not correlated with DBP, TC, TG, LDL-C, FBG, FINS, HOMA-IR, HOMA-IS and HOMA-beta. The number of SBP in 22 groups of HOMA-IS repeats was significantly higher than that in 22 groups of CAG repeats, while the number of HDL-C repeats in 22 groups of CAG repeats was significantly lower than that in 22 groups of CAG repeats. There was no significant difference among - C, FBG, FINS, HOMA - IR, HOMA - IS and HOMA - beta. Among the short group (CAG repeats 22), 194 (71.1%) were hypertensive, 414 (60.9%) were hypertensive in the long group (CAG repeats more than 22), and 22 (CAG repeats more than 22) had a higher prevalence of hypertension. The risk of hypertension was 1.4 times higher in patients with CAG repeat 22 of AR gene than in those with CAG repeat 22 of AR gene. The length of CAG repeat had no effect on the incidence of HDL-C or TG abnormalities, overweight and/or obesity, diabetes mellitus and hyperglycemia. There was no correlation between the CAG repeat polymorphism of AR gene and the genetic inheritance of MS. The correlation analysis between the CAG repeat length of AR gene and the components of MS showed that the CAG repeat length of AR gene was positively correlated with HDL-C level, but negatively correlated with SBP level. The correlation between the CAG repeat length of AR gene and the disease related to the abnormal components of MS showed that the prevalence of hypertension was significant in 22 groups of AR gene CAG repeat length. The risk of hypertension was 1.4 times higher in group 22 than in group 22.
【学位授予单位】：宁夏医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R589
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