北部湾人群Dectin-1的基因多态性与马尔尼菲青霉菌病易感性的相关性研究

目的:探讨北部湾人群C型凝集素-1(Dectin-1)基因多态性与马尔尼菲青霉菌病易感性的相关性。方法:选取北部湾地区的马尔尼菲青霉菌(PM)病患者71例为病例组,另选北部湾地区的71例体检正常者为对照组,直接测序检测rs16910526、rs16910527位点的基因型及等位基因频率,并分析其与马尔尼菲青霉菌病易感性的相关性。结果:(1)对照组和病例组之间rs16910526有三种基因型GG、GT、TT,两组之间基因型和等位基因频率比较差异不显著(P0.05)。(2)对照组和病例组之间rs16910527有三种基因型AA、AC、CC,且病例组AC的基因型频率显著高于对照组(P0.05)。(3)局限性、播散性PM患者rs16910526、rs16910527基因型和等位基因频率比较差异不显著(P0.05)。(4)rs16910526、rs16910527的4种单倍型:GT、AC、AT、TT,位于同一连锁不平衡区域内,且对照组和病例组A/C的分布频率比较差异具有统计学意义(P0.05)。结论:北部湾人群Dectin-1的rs16910527位点与马尔尼菲青霉菌病易感性相关,且A/C能提高马尔尼菲青霉菌病的易感性。     

肿瘤坏死因子α基因rs4645843C/T多态对多囊卵巢综合征患者血清中睾酮浓度的影响

目的:探讨肿瘤坏死因子α基因外显子3中rs4645843C/T多态对多囊卵巢综合征患者睾酮浓度的影响。方法:应用聚合酶链反应-SNP敏感性分子开关技术检测130例多囊卵巢综合征(PCOS)患者和175例对照组妇女肿瘤坏死因子-α外显子3中rs4645843C/T多态及其分布,比较rs4645843C/T等位基因与PCOS之间的关系,同时采用化学发光法分析测定血清T水平。结果:PCOS及对照组TNF-α基因rs4645843C/T多态分析均显示有CC,CT,TT三种基因型和C,T两种基因。PCOS组中CC,CT,TT三种基因型和C,T两种等位基因频率分别为34.6%、58.5%、6.9%和63.8%,36.2%,对照组中三种基因型和两种等位基因频率分别为43.4%,53.7%,2.9%和70.3%,29.7%,基因型频率和等位基因频率分布差异在两组中均无统计学意义(P=0.108;P=0.093)。在PCOS患者中,各等位基因及基因型频率分布在高雄激素血症组(T≥0.7ng/mL)和非高雄激素血症组(T<0.7ng/mL)差别亦无统计学意义(P=0.867)。方差分析发现CC,CT,TT三种基因型患者之间血清T...     

SCN9A基因多态与颞叶癫痫相关性

目的:探讨SCN9A基因多态与颞叶癫痫相关性。方法:搜集179例癫痫患者及正常对照组236例血样,提取全基因组DNA。聚合酶链反应-限制性片段长度多态(PCR-RFLP)、测序法检测四个标签SNPs多态性,比较两组各位点基因型和等位基因频率的差异。结果:SCN9A基因rs12620053和rs7588632位点多态在癫痫组与对照组间存在显著差异(P0.05),而rs2893013和rs4465779位点多态在癫痫组与对照组间无显著差异(P0.05)。结论:SCN9A基因rs12620053和rs7588632位点多态与癫痫易感性相关,而位点rs2893013和rs4465779与癫痫易感性无关。     

SLC2A9rs1014290位点基因多态性与北方汉族地区男性痛风发病的相关性研究

目的:探讨可溶性载体2家族成员9基因(SLC2A9)rs1014290位点的单核苷酸多态性与北方汉族地区男性原发性痛风的发病的相关性。方法:选取404例原发性痛风男性患者和412名健康体检者,分别检测其血清尿酸、血脂、肾功等生化指标,同时提取外周血DNA,应用连接酶检测反应(LDR)法分析其SLC2A9基因rs1014290位点基因型和等位基因频率。结果:痛风组空腹血糖、尿酸(UA)、甘油三酯(TG)、胆固醇(TC)、收缩压、BMI、肌酐(Cr)水平均显著高于对照组,差异有统计学意义(P0.05)。痛风组SLC2A9基因rs1014290位点各基因型频率(CC:12.8%;CT:53.5%;TT:38.7%)与对照组(CC:16.2%;CT:50.9%;TT:32.9%)相比差异有统计学意义(X2=3.978,P=0.041);两组的等位基因频率相比差异无统计学意义(X2=0.314,P=0.496)。结论:SLC2A9基因rs1014290位点多态性可能与我国北方汉族男性原发性痛风的易感性相关,携带TT基因型的个体更易患痛风。     

COL1A1及IGF-1基因与中国北方汉族人群高度近视相关性研究

目的:探讨I型胶原α1链(collagen I alpha-1,COL1A1)基因和类胰岛素生长因子-1 (insulin-like growth factors-1, IGF-1)基因与中国北方汉族人群高度近视的相关性。方法:收集2011年10月~2017年1月经我院眼科视光学中心诊疗的高度近视眼患者286例(病例组)及正常对照者201例(对照组),病例组按照眼球中轴长度分为A组(眼轴长度≥27 mm)126例和B组(眼轴长度27 mm)160例。用血液基因组DNA提取试剂盒提取受试者外周静脉抗凝血中的基因组DNA,采用多重PCR反应和基因测序得到目标片段COL1A1基因的多态位点rs2075555、rs2075554、rs2269336、rs1107946、rs1007086,IGF-1基因的多态位点rs12423791、rs10860860、rs2946834、rs6214的碱基序列,用卡方检验和Logistic回归分析的方法分析病例组和对照组之间各基因分布的差异。结果:病例组和正常对照组COL1A1基因的单核苷酸多态性位点的基因型频率和等位基因频率均无显著性差异(P0.05)。病例组和正常对照组IGF-1基因的rs12423791位点的基因型频率和等位基因频率有统计学差异(P=0.016),其他3个位点的单核苷酸多态性位点均无显著性差异(P0.05)。病例A组和对照组及A组和B组之间COL1A1基因的5个单核苷酸多态性位点分布均无显著性差异(P0.05),IGF-1基因的rs12423791位点有统计学差异(P=0.033)。结论:胶原类基因COL1A1的多态性与中国北方汉族人群高度近视的发生无显著相关性,IGF-1基因的rs12423791位点的多态性与中国北方汉族人群高度近视的发生有显著相关性。     

TGF-beta1 基因rs200482214 位点多态性与黑龙江省汉族人群慢性牙周炎的相关性研究

目的:探讨转移生长因子β1(transforminggrowth factor beta-l,TGF-β1)位点rs200482214基因多态性与黑龙江省汉族人群慢性牙周炎的易感性的相关性。方法:选取2012年3月至2013年7月在哈尔滨医科大学附属口腔医院牙周科就诊的135例轻、中、重度慢性牙周炎汉族患者(牙周炎组)和108例汉族健康对照者(健康对照组)作为研究对象,基因组DNA来自口腔颊粘膜拭子,采用多重单碱基延伸SNP分型技术(Multiplex SNaPshot technique)对所有受试者TGF-β1基因rs200482214位点进行检测,比较两组间此位点基因型分布和等位基因频率的差异。结果:(1)TGF-β1基因rs200482214位点各基因型(GG、GA、AA)分布均符合Hardy-Weinberg遗传平衡定律(P>0.05);(2)TGF-β1基因rs200482214位点GG、GA、AA在牙周炎组和健康对照组的分布频率分别为61.5%、30.4%、8.1%和63.0%、28.7%、8.3%,两组人群基因型分布频率差异无统计学意义(P>0.05);等位基因G、A在牙周炎组和健康对照组分布频率分别为76.7%、23.3%和77.3%、22.7%,两组人群的等位基因分布频率差异亦无统计学意义(P>0.05)。结论:TGF-β1位点rs200482214基因多态性与黑龙江省汉族人群慢性牙周炎的易感性不具有相关性。     

白细胞介素8 基因-251A/T 多态与子宫内膜异位症的相关性研究

目的:探讨白细胞介素8基因(IL-8)-251A/T多态性在子宫内膜异位症发生中的作用。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和焦磷酸测序方法,研究152例子宫内膜异位症患者和134例正常子宫内膜中IL-8基因-251A/T多态性的分布情况。结果:IL-8基因-251A/T多态位点的AA、AT和TT基因型在子宫内膜异位症组中分别为12.5%、46.1%、41.5%,等位基因A和T的频率分别为35.5%、64.5%;在对照组中AA、AT和TT三种基因型分布频率分别为24.6%、41.0%、34.3%,等位基因A和T的频率分别为45.1%、54.9%。IL-8基因-251A/T单核苷酸多态是子宫内膜异位症发病的独立的危险因素(P<0.05);A等位基因携带者患子宫内膜异位症的风险增高(P<0.05)。结论:在中国北方汉族人群中IL-8基因-251A/T单核苷酸多态性与子宫内膜异位症的发病具有相关性,A等位基因是子宫内膜异位症发病重要的遗传学标记。     

TGF-β1基因rs200482214位点多态性与黑龙江省汉族人群慢性牙周炎的相关性研究

目的:探讨转移生长因子β1(transforminggrowth factor beta-l,TGF-β1)位点rs200482214基因多态性与黑龙江省汉族人群慢性牙周炎的易感性的相关性。方法:选取2012年3月至2013年7月在哈尔滨医科大学附属口腔医院牙周科就诊的135例轻、中、重度慢性牙周炎汉族患者(牙周炎组)和108例汉族健康对照者(健康对照组)作为研究对象,基因组DNA来自口腔颊粘膜拭子,采用多重单碱基延伸SNP分型技术(Multiplex SNaPshot technique)对所有受试者TGF-β1基因rs200482214位点进行检测,比较两组间此位点基因型分布和等位基因频率的差异。结果:(1)TGF-β1基因rs200482214位点各基因型(GG、GA、AA)分布均符合Hardy-Weinberg遗传平衡定律(P0.05);(2)TGF-β1基因rs200482214位点GG、GA、AA在牙周炎组和健康对照组的分布频率分别为61.5%、30.4%、8.1%和63.0%、28.7%、8.3%,两组人群基因型分布频率差异无统计学意义(P0.05);等位基因G、A在牙周炎组和健康对照组分布频率分别为76.7%、23.3%和77.3%、22.7%,两组人群的等位基因分布频率差异亦无统计学意义(P0.05)。结论:TGF-β1位点rs200482214基因多态性与黑龙江省汉族人群慢性牙周炎的易感性不具有相关性。     

中国北方人群TCF7L2 基因多态性与血脂谱的相关性

目的:研究中国北方人群TCF7L2基因rs11196218和rs290487多态性的分布特点及其与血脂谱的相关性。方法:对1255例中国北方人群TCF7L2基因进行单核苷酸多态性检测,同时检测其血脂水平,分析血脂水平与上述基因的相关性。结果:在中国北方人群中TCF7L2基因rs11196218位点AA,AG和GG基因型频率分别为6.61%,39.68%和53.71%,等位基因A、G频率分别为26.45%和73.55%;而rs290487位点TT,CT和CC基因型频率分别为37.45%,45.98%和16.57%,等位基因T,C频率分别为60.44%和39.56%。rs11196218A/G与血清低密度脂蛋白、总胆固醇水平具有相关性(P≤0.05),而rs290487C/T与血脂水平无相关性(P0.05)。结论:在中国北方人群中存在TCF7L2基因rs11196218A/G和rs290487C/T单核苷酸多态性,且其变异频率大,rs11196218A/G与血脂异常相关。     

MTHFR、MTRR和MTR基因多态性与唐氏综合征发生的相关性研究

应用PCR-RFLP方法分析31例唐氏综合征（Down＇s syndrome, DS）患儿母亲和68例正常生育女性叶酸代谢相关基因：MTHFR 677C〉T、MTRR 66A〉G和MTR 2756A〉G多态性,探讨其与唐氏综合征DS发生的关系。采用Pearson χ^2 检验基因和基因型频率分布,并分析各基因之间的相互作用,计算比值比评价相对危险度。MTHFR基因T等位基因频率在病例组和对照组中具有显著性差异（P〈0.05）,而MTRR和MTR基因G等位基因频率在病例组和对照组中的差异无显著性。MTHFR TT基因型母亲生育DS风险显著增加（OR=3.51,95 %CI=1.04-11.85,P〈0.05）。MTRR GG基因型生育DS的风险增加3.57倍（OR=3.57,95 %CI=1.19-10.73,P〈0.05）。MTR突变基因型AG和GG与生育DS的风险无显著关系。MTHFR （CT＋TT）/MTRR GG、MTHFR （CT＋TT）/MTR AA和MTRR GG/MTR AA联合基因型与DS发生风险显著相关。结果表明,MTHFR 677C〉T、MTRR 66A〉G位点变异是生育DS的独立风险因子,尚不能认为MTR 2756A〉G多态与DS发生相关。基因与基因多态位点之间存在交互和修饰效应。     

Association of the FTO rs9939609 polymorphism with obesity in Roma/Gypsy population

The rs9939609 SNP located in the first intron of the fat mass and obesity associated gene (FTO) has been found to be associated with common obesity mainly in populations of European descent. The Roma/Gypsy population as an ethnic minority of Asian Indian origin is well known for its adverse health status with a high prevalence of obesity. The main aim of this study was to examine the contribution of the rs9939609 FTO polymorphism to the high prevalence of obesity in the Roma/Gypsy population. Following a number of anthropometric measurements, the FTO rs9939609 polymorphism was genotyped in 312 Roma/Gypsy individuals. We observed significant differences in body mass index (BMI), waist circumference, and waist-to-hip ratio between different genotypes (P = 0.003, P = 0.012, and P = 0.03, respectively). The waist circumference in the subjects with AA genotype was about 7.1 cm larger than in those with TT genotypes (P = 0.005). However, the strongest association of minor allele A of the rs9939609 FTO polymorphism was found with BMI (odds ratio, 1.55; 95% confidence interval, 1.129-2.128; P = 0.007), even after adjusting for age, sex, and smoking status. This study provides the first report of allele and genotype frequencies for the rs9939609 polymorphism and also the first evidence of the association of the FTO variant with obesity in the Roma/Gypsy population.     

Association Study between Polycystic Ovarian Syndrome and the Susceptibility Genes Polymorphisms in Hui Chinese Women

IntroductionPolycystic ovary syndrome (PCOS) is one of the most common endocrine-metabolic disorders. Evidence of familial aggregation analysis and different clinical traits among different regions and ethnicities indicated that the pathogenesis of PCOS is associated with multiple genetic and environmental factors. Our previous research had identified three susceptibility loci (rs2479106, DENND1A; rs13405728, LHCGR; rs13429458, THADA) for PCOS in Han Chinese women. The overall aim of this study was to investigate the relationship between three susceptibility gene polymorphisms and PCOS in Hui ethnic women.Methods151 patients with PCOS (case group) and 99 healthy women (control group) were recruited from the Reproductive Medicine Center of the General Hospital of Ningxia Medical University. Clinical data and serum hormone characteristics of case and control groups were collected and analyzed. The three susceptibility single-nucleotide polymorphisms have been replicated in both case and control groups. Gene polymorphisms were detected by direct sequencing after polymerase chain reaction.ResultsThe Body Mass Index, LH, LH/FSH ratio and total testosterone were significantly elevated in PCOS patients compared to control group (P<0.05). The frequencies of genotype and allele in rs13405728 were significantly different between the PCOS and the control groups (P<0.05). Of the SNP rs13405728, the PCOS cases with TT genotype stayed at a higher level of total testosterone, TG and LDL than those with the CC and CT genotypes. In contrary, there was no statistical difference between the two groups for SNP rs13429458 and rs2479106 (P>0.05).ConclusionThe present study suggested that the SNP rs13405728 in the LHCGR gene was associated with PCOS in Hui ethnic women, and its TT genotype characterized with higher level of TT, TG and LDL.     

LKB1基因多态性与2型糖尿病相关性研究

目的:探讨陕西汉族人群中LKB1基因位点rs741765(380CT)及rs6510599(459GA)单核苷酸多态性(SNPs)与2型糖尿病遗传易感性及相关临床代谢指标的关系。方法:采用等位基因特异性引物PCR(SASP-PCR)对2型糖尿病患者130例及健康对照组100例进行LKB1基因内含子6 rs741765(380CT)及内含子1 rs6510599(459GA)两个位点进行基因多态性筛查,并测序鉴定,分析其基因多态性位点与2型糖尿病临床代谢指标关系。结果:rs741765(380CT)基因突变情况:2型糖尿病患者TT基因型频率显著高于健康对照组(P=0.023);TT基因2型糖尿病组中糖化血红蛋白水平及低密度脂蛋白胆固醇水平在型中明显升高(P=0.030;P=0.002);健康对照组中,空腹血糖水平在TT基因型中明显升高(P=0.011)。rs6510599(459GA)基因突变情况:AA基因型频率在2型糖尿病组及健康对照组间无显著性差异(P0.05);该基因位点与临床指标亦无相关性(P0.05)。结论:陕西汉族人群中LKB1基因内含子6 rs741765(380CT)及内含子1 rs6510599(459GA)存在基因多态性。LKB1基因内含子6 rs741765(380CT)基因多态性与2型糖尿病的发病有相关性。LKB1基因内含子1 rs6510599(459GA)基因多态性与2型糖尿病的发病无相关性。     

Influences of FTO gene on onset age of adult overweight

FTO affects changes in BMI during both childhood and adulthood. However, its effect on onset age of overweight in adulthood is not known. To address this question, we conducted a study to examine effects of FTO tag SNPs on censored age of overweight in the longitudinal Bogalusa Heart Study (BHS) cohort, which began in 1973–1974. Of participating subjects, 658 whites (308 males and 350 females) with genotype data were selected for the study. The FTO gene was examined by a survival analysis of 30 tag SNPs regarding their association with left, interval and right-censored adult overweight. After adjustment for birth weight and sex, SNP rs9939609 has a small nominal p value of 0.004 for the association with onset age, which has an expected proportion of false positives of 9.6?% after adjusting for multiple tests. It was estimated that genotypes AA, AT and TT have onset age (standard error) of 22.82 (1.07), 28.96 (1.04) and 27.76 (1.04)?years, respectively, for a 50?% cumulative proportion of overweight in the population. Genotypes AA, AT and TT, respectively, have estimated survival probability of 65.8, 78.7 and 76.8?% at the age of 18; and survival probability of 6.5, 11.8 and 10.7?% at the age of 60. The odds ratios of survival beyond age ≥18?years are 0.52 for AA versus AT and 0.58 for AA versus TT. We thus concluded that risk genetic variants at FTO gene can accelerate the onset age and influence the survival odds of overweight in younger adults.     

血清白介素8基因多态性与食管鳞癌根治术后的相关性分析

摘要 目的：探讨与分析血清白细胞介素8（IL-8）基因多态性与食管鳞癌（ESCC）根治术后的相关性。方法：2017年8月到2020年6月选择在本院诊治的食管鳞癌患者98例作为研究对象,检测血清IL-8表达水平。所有患者都给予根治手术治疗,随访患者的预后并进行相关性分析。结果：所有患者术后随访到2021年7月,平均随访时间为25.69±2.58个月,死亡28例,死亡率为28.6 %（死亡组）。两组血清IL-8表达水平表达具有差异（P<0.05）。所有患者的基因型频率均符合Hardy-Weinberg这一平衡法则,表明本文所选取的样本均具有群体代表性。IL-8基因启动子rs4073A/T的AA基因型较死亡组高,TT基因型较死亡组低,两组A、T等位基因频率分布对比有差异（P<0.05）。直线相关性分析显示：IL-8基因启动子rs4073A/T的AA基因型、A等位基因、血清IL-8表达水平与预后死亡率存在相关性（P<0.05）。多因素logistic回归分析显示：IL-8基因启动子rs4073A/T的AA基因型、A等位基因、血清IL-8表达水平为导致患者随访死亡的主要因素（OR=2.051,3.094,P<0.05）。结论：食管鳞癌根治术后患者依然存在一定的死亡率,患者死亡与血清IL-8基因多态性存在相关性,同时多伴随有IL-8的高表达。IL-8基因启动子rs4073A/T的AA基因型、A等位基因、血清IL-8表达水平为导致患者死亡的主要因素。     

The rs9939609 polymorphism in the fat mass and obesity associated (FTO) gene is associated with obesity in Tunisian population

Abstract

Context: Variations in the fat mass and obesity-associated gene (FTO) has been associated with obesity in many populations, but the results are conflicting.

Objective: The aim of this study was to evaluate the effect of the rs9939609 polymorphism in the FTO gene on obesity risk and plasma leptin, adiponectin, insulin and lipid concentrations in Tunisians.

Materials and methods: Four hundred and ninety-four subjects with obesity and 334 non-obese participated in this study. The rs9939609 (T/A) genotype was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.

Results: Significant differences in genotype frequencies were observed between cases and controls. In the separate analysis by gender, the association between the AA genotype and obesity was statistically significant in women but not in men. After stratification by obesity class this association remains only with obesity class III.

Discussion: Our study is in agreement with studies on Caucasian, Portuguese and Cebu Filipino populations where a gender-specific association was found between rs9939609 polymorphism and obesity. It is also in agreement with studies on Mexican, Spanish and European populations, where an association was found with obesity class III.

Conclusion: The rs9939609 polymorphism of FTO gene is associated with obesity, especially obesity class III in women.     

FTO polymorphisms are associated with obesity but not diabetes risk in postmenopausal women

The FTO gene was recently identified as a susceptibility locus for both obesity and type 2 diabetes by whole-genome association analyses of several European populations. We tested for an association between FTO risk alleles and obesity and diabetes in a well-characterized multiethnic cohort of postmenopausal women in the United States. We genotyped two most significantly associated single-nucleotide polymorphisms (SNPs) (rs9939609 and rs8050136) in intron 1 of FTO gene in a nested case-control study of 1,517 diabetes cases and 2,123 controls from the Women's Health Initiative-Observational Study (WHI-OS). The allelic frequencies of either rs9939609 or rs8050136 differed widely across four ethnic groups. The frequency of the rare allele A of rs9939609 among controls was much lower in Asians/Pacific Islanders (17%) than in blacks (45%), whites (40%), and Hispanics (31%). We found significant associations of rs9939609 with BMI and waist circumference in white and Hispanic women, but not among black and Asian/Pacific Islander women. On average, each copy of the risk-allele A at rs9939609 was significantly associated with 0.45 kg/m(2) increase in BMI (95% confidence interval (CI): 0.16-0.74; P = 0.004) and 0.97 cm increase in waist circumference (95% CI: 0.21-0.65; P = 0.0002). Similar results were observed for rs8050136. However, we found no significant genetic associations with diabetes risk, either within the full study sample or in any ethnic group. In conclusion, common genetic variants in the intron 1 of FTO gene may confer a modest susceptibility to obesity in an ethnicity-specific manner, but may be unlikely to contribute to a clinically significant diabetes risk.     

Effects of FTO genotype on weight loss and metabolic risk factors in response to calorie restriction among Japanese women

Effects of gene variants in the fat-mass and obesity-associated (FTO) gene (primarily rs9939609) on weight loss induced by lifestyle intervention are controversial. The aim of this study was to investigate whether FTO gene variations are associated with weight-reduction and changes in metabolic risk factors in response to a 14-week calorie restriction. In total, 204 Japanese women (aged 24-66 years; BMI ≥ 25 kg/m(2)) enrolled as subjects and attended dietary lectures instructing them on how to consume a nutritionally balanced diet of 1,200 kcal/day. Fat mass, both at baseline (P = 0.100) and after the intervention (P = 0.020), was higher in subjects with the AA genotype (n = 15; 7.3%) than in those with TT (n = 114; 55.9%) and TA (n = 75; 36.8%) genotypes. The change in fat-mass tended to be smaller in subjects with the AA genotype than in those with other genotypes (P = 0.065). However, the subjects with the risk allele could still decrease their body weight and improve metabolic risk factors significantly. Our data suggest that the impact of FTO rs9939609 in Japanese women may not be great enough to change body weight or metabolic risk factors in response to calorie restriction. Environmental and behavioral factors may overcome the effects of genes on weight reduction.     

The Effects of Genetic Variation in FTO rs9939609 on Obesity and Dietary Preferences in Chinese Han Children and Adolescents

The association of the rs9939609 single nucleotide polymorphism in FTO gene with obesity has been extensively investigated in studies of populations of European, African, and Asian ancestry. However, inconsistent results have been reported in Asian populations, and the relationship of FTO variation and dietary behaviors has only rarely been examined in Chinese children and adolescents. The aim of this study was to assess the association of rs9939609 with obesity and dietary preferences in childhood in a Chinese population. Epidemiological data including dietary preferences were collected in interviews using survey questionnaires, and rs9939609 genotype was determined by real-time PCR. The associations of rs9939609 genotypes with obesity and dietary preferences were analyzed by multivariate logistic regression using both additive and dominant models. The results showed that subjects with a TA or AA genotype had an increased risk of obesity compared with the TT participants; the odds ratios (ORs) were 1.47 (95% CI: 1.25–1.71, P = 1.73×10⁻⁶), and 3.32 (95% CI: 2.01–5.47, P = 2.68×10⁻⁶), respectively. After adjusting for age and gender, body mass index, waist circumference, hip circumference, systolic blood pressure, diastolic blood pressure, fasting blood glucose, triglycerides, and low-density lipoprotein cholesterol were higher, and high-density lipoprotein cholesterol was lower in TA and AA participants than in those with the TT genotype. After additionally controlling for body mass index, the association remained significant only for systolic blood pressure (P = 0.005). Compared with TT participants, those with the AA genotype were more likely to prefer a meat-based diet (OR = 2.81, 95% CI: 1.52–5.21). The combined OR for obesity in participants with TA/AA genotypes and preference for a meat-based diet was 4.04 (95% CI: 2.8–5.81) compared with the TT participants who preferred a plant-based diet. These findings indicate the genetic variation of rs9939609 is associated with obesity and dietary preferences in Chinese children and adolescents.