OBJECTIVE: To explore the association of single nucleotide polymorphisms (SNPs) of the vitamin D receptor gene ( VDR) with circulating lipids considering gender differences. METHODS: Of the Han Chinese adults recruited from a health examination center for inclusion in the study, the circulating lipids, 25-hydroxyvitamin D (25OHD), and other parameters were measured. The VDR SNPs of Cdx2 (rs11568820), Fok1 (rs2228570), Apa1 (rs7975232), and Taq1 (rs731236) were genotyped with a qPCR test using blood DNA samples, and their associations with lipids were analyzed using logistic regression. RESULTS: In the female participants ( n = 236 with dyslipidemia and 888 without dyslipidemia), multiple genotype models of Fok1 indicated a positive correlation of B (not A) alleles with LDLC level ( P < 0.05). In the male participants ( n = 299 with dyslipidemia and 564 without dyslipidemia), the recessive model of Cdx2 and the additive and recessive models of Fok1 differed ( P < 0.05) between the HDLC-classified subgroups, respectively, and Fok1 BB and Cdx2 TT presented interactions with 25OHD in the negative associations with HDLC ( P < 0.05). CONCLUSION In the Chinese Han adults included in the study, the Fok1 B-allele of VDR was associated with higher LDLC in females, and the Fok1 B-allele and the Cdx2 T-allele of VDR were associated with lower HDLC in males. The interaction of VD and Fok1 BB or Cdx2 TT in males synergistically decreased HDLC levels.
Adult ; Alleles ; Asians/genetics* ; China/ethnology* ; Dyslipidemias/genetics* ; Female ; Genetic Predisposition to Disease/genetics* ; Genotype ; Humans ; Lipids/blood* ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Receptors, Calcitriol/genetics* ; Sex Factors ; Vitamin D/blood*

BACKGROUND: Interleukin (IL)-37, also called IL1F7, is a natural inhibitor of inflammatory and immune responses. It is involved in the pathogenesis of rheumatoid arthritis (RA). This study aimed to investigate the role of IL1F7 gene polymorphism in RA susceptibility in a large cohort of patients. METHODS: Five selected single-nucleotide polymorphisms in IL1F7 genes (rs2723186, rs3811046, rs4241122, rs4364030, and rs4392270) were genotyped by TaqMan Allelic Discrimination in Northern Chinese Han population. The allele and the genotype were compared between patients with RA and healthy controls. Association analyses were performed on the entire data set and on different RA subsets based on the status of the anti-cyclic citrullinated peptide antibody and the rheumatoid factor by logistic regression, adjusting for age and gender. RESULTS: Trend associations were detected between rs2723186, rs4241122, rs4392270, and RA in Stage I (160 patients with RA; 252 healthy controls). Further validation in Stage II comprised 730 unrelated patients with RA (mean age: 54.9 ± 12.6 years; 81.6% females) and 778 unrelated healthy individuals (mean age: 53.5 ± 15.7 years; 79.5% females). No significant differences in the distributions of alleles and genotypes were observed between the case and control groups in both the entire set and the different RA subsets. Disease activity and age of RA onset were also not associated with genotype distributions. CONCLUSION IL1F7 gene polymorphism does not significantly influence RA susceptibility in the Northern Chinese Han population.
Adult ; Aged ; Arthritis, Rheumatoid ; genetics ; Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; China ; ethnology ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Interleukin-1 ; genetics ; Male ; Middle Aged ; Polymorphism, Single Nucleotide

Adaptor Proteins, Signal Transducing ; genetics ; Adult ; Asian Continental Ancestry Group ; China ; ethnology ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Polymorphism, Single Nucleotide ; Vitiligo ; genetics

OBJECTIVE: This study aims to investigate the association between human leucocyte antigen (HLA)-DQB1 allele polymorphisms and the presence dental caries among the Uygur and Han children in Xinjiang. METHODS: HLA-DQB1 allele in the Uygur and Han children with dental caries and healthy control in Xinjiang was tested (n=40) using the polymerase chain reaction-sequence specific primer (PCR-SSP) DNA parting technology. RESULTS: A total of five specific loci were detected in the HLA-DQB1 locus among the Uygur and Han children. The frequency of the HLA-DQB1*02 allele in the Han group with severe caries (12.5%) was significantly lower than in the control group (32.5%) (P<0.05, OR=0.297). Moreover, the frequency of the HLA-DQB1*05 allele in the Uygur group with severe caries (37.5%) was significantly higher than in the control group (17.5%) (P<0.05, OR=2.829). CONCLUSIONS Caries susceptibility among the Uygur and Han children in Xinjiang is related to the HLA-DQB1 allele. The HLA-DQB1*02 allele may protect against caries among the Han children, whereas the HLA-DQB1*05 allele may be responsible for the susceptibility of the Uygur children to caries.
Alleles ; Asian Continental Ancestry Group ; Child ; China ; Dental Caries ; ethnology ; genetics ; Gene Frequency ; Genetic Predisposition to Disease ; HLA-DQ beta-Chains ; genetics ; Humans ; Polymerase Chain Reaction ; Polymorphism, Genetic

BACKGROUND: The rs1520220 polymorphism in the insulin-like growth factor 1 (IGF1) gene has been reported to affect cancer susceptibly in several studies. However, the results of the relevant studies are inconsistent. We conduct a current meta-analysis to investigate the association between rs1520220 and cancer susceptibly. METHODS: Three databases (PubMed, Embase, and Web of Science) were searched for studies regarding the relationship between rs1520220 and cancer susceptibly. Odds ratios (ORs) and the related 95% confidence intervals (CIs) were employed to assess the strength of the associations. A stratified analysis was performed according to cancer type, ethnicity, and quality score, and when results were obtained from no fewer than two studies, these results were pooled. RESULTS: There was no positive association between rs1520220 and overall cancer risk. However, the analysis stratified by ethnicity revealed that rs1520220 significantly increased cancer susceptibility in Asian populations (allele model OR = 1.10, 95%Cl = 1.00-1.21, p = 0.040; homozygote model OR = 1.22, 95%Cl = 1.01-1.47, p = 0.040; dominant model OR = 1.19, 95%Cl = 1.01-1.39, p = 0.033). No significantly association was detected in Caucasian populations. The analysis stratified by cancer type suggested that rs1520220 was not associated with susceptibility to breast cancer. CONCLUSIONS The results of our meta-analysis demonstrate that the role of IGF1 rs1520220 in cancer susceptibility varies by ethnicity and cancer type and that rs1520220 increases cancer susceptibility in Asian populations.
Asian Continental Ancestry Group ; Continental Population Groups ; Gene Frequency ; Genetic Predisposition to Disease ; Humans ; Insulin-Like Growth Factor I ; genetics ; Neoplasms ; ethnology ; genetics ; Odds Ratio ; Polymorphism, Single Nucleotide

OBJECTIVETo assess the association of programmed cell death 1 (PDCD1) gene polymorphisms with the susceptibility and/or progression of colorectal cancer.

METHODSA hospital-based case-control study was carried out, which recruited 426 colorectal cancer patients and 500 healthy individuals. Five single nucleotide polymorphisms, namely rs36084323, rs11568821, rs2227981, rs2227982 and rs10204525, were selected for the study and genotyped with a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay.

RESULTSThe G allele of rs36084323 under a dominant model was associated with increased risk of advanced TNM staging of colorectal cancer progression (OR=1.59, 95%CI=1.02-2.48). Haplotypes G-G-C-T-A and A-G-C-C-G of the rs36084323, rs11568821, rs2227981, rs2227982, and rs10204525 were negatively associated with the occurrence of colorectal cancer.

CONCLUSIONThe G allele of rs36084323 is associated with increased risk of advanced TNM staging of colorectal cancer. Conversely, the incidence of colorectal cancer is negatively associated with the haplotypes G-G-C-T-A and A-G-C-C-G of rs36084323, rs11568821, rs2227981, rs2227982, and rs10204525.

Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; China ; ethnology ; Colorectal Neoplasms ; genetics ; pathology ; Genetic Predisposition to Disease ; Haplotypes ; Humans ; Neoplasm Staging ; Polymorphism, Single Nucleotide ; Programmed Cell Death 1 Receptor ; genetics

Objective: To describe the study design, the characteristics of participants as well as the pedigrees included in the baseline survey of Fujian Tulou Family Cohort Study. Methods: Fujian Tulou Family Cohort Study was a prospective open cohort study with a biological sample bank. A baseline survey was conducted in Tulou areas of Nanjing county in Fujian province from 2015 to 2018, including questionnaire survey, physical and biochemical indicators examinations, and blood sample collection in adults aged ≥18 years. In addition, family relationship of the participants was also recorded. The pedigree information of the juveniles under 18 years old were also collected. Results: The baseline survey included 2 727 individuals in two clans, of whom 2 373 (87.0%) were adults, and 2 126 participants completed questionnaires, physical examinations and biochemical tests. The average age of the 2 126 participants was (57.9±13.3) years, with 39.4% being males. The current smoking rates in male and female participants were 41.2% and 2.1%, respectively. The corresponding rates of current alcohol consumption were 19.0% and 2.6%. For common chronic diseases, the prevalence rates were 51.3% for hypertension, 9.7% for diabetes and 26.7% for hyperlipemia according to the self-reported disease diagnoses, health examination results and biochemical examination results in class Ⅱ or Ⅲ hospitals. Based on the family relationship information and genealogical data, 710 pedigrees were finally identified, consisting of 5 087 family members. The numbers of five, four, three, and two generations pedigrees were 3, 88, 238 and 381, respectively. The pairs of the first to the fifth degree relatives were 12 039, 2 662, 1 511, 202 and 31, respectively. Conclusion: The establishment of Fujian Tulou Family Cohort provides valuable resources for exploring the genetic risk factors, environmental risk factors and gene-environment interactions contributing to the risk of common chronic diseases.
Adolescent ; Adult ; Aged ; China/epidemiology* ; Chronic Disease/ethnology* ; Cohort Studies ; Diabetes Mellitus/ethnology* ; Family Health ; Female ; Gene-Environment Interaction ; Genetic Predisposition to Disease/ethnology* ; Humans ; Hyperlipidemias/ethnology* ; Hypertension/ethnology* ; Male ; Middle Aged ; Pedigree ; Prospective Studies ; Risk Factors ; Surveys and Questionnaires

OBJECTIVETo assess the association of four single nucleotide polymorphisms (SNPs) (rs12190359C>T, rs562047C>G, rs1008438G>T, and rs1043618G>C) of HSPA1A gene with the development of cervical cancer among ethnic Han Chinese from Yunnan.

METHODSOne hundred and thirty patients with CIN III, 444 patients with cervical cancer, and 548 healthy individuals were recruited, and the genotypes of the above SNPs were determined with a Taqman assay. Haplotypes were constructed, and their association with the development of cervical cancer was analyzed.

RESULTSThe frequencies of G and T alleles of rs1008438G>T were significant different between the CIN III and control groups, as well as between the cancer and control groups (P=0.022 and P=0.030, respectively). There was a significant difference in genotypic frequency of rs1008438G>T between the CIN III and control groups (P=0.047). The allelic and genotypic frequencies of rs12190359C>T, rs562047C>G, and rs1043618G>C did not significantly differ between the CIN III, cervical cancer and control groups (P> 0.05). The frequencies of haplotypes formed by rs562047C>G, rs1008438G>T and rs1043618G>C also did not significantly differ between the CIN III, cancer and control groups (P> 0.05).

CONCLUSIONThe G allele of rs1008438G>T may be a protective factor for cervical cancer among ethnic Han Chinese from Yunnan.

China ; ethnology ; Female ; Genetic Predisposition to Disease ; Genotype ; HSP70 Heat-Shock Proteins ; genetics ; Haplotypes ; Humans ; Polymorphism, Single Nucleotide ; Uterine Cervical Neoplasms ; etiology ; genetics

OBJECTIVETo explore the association of KIR-HLA gene polymorphism with chronic myeloid leukemia (CML) among ethnic Hans from southern China.

METHODSA total of 172 adult CML patients and 480 unrelated healthy controls were screened for the presence of KIR with sequence-specific primers-PCR (PCR-SSP) and sequence-based typing (SBT) of HLA-A, -B and -C loci. Polymorphisms of the KIR-HLA system were analyzed at 4 levels, and the frequencies of KIR framework genes and KIR profiles, classⅠHLA ligands, matched KIR+HLA pairs and KIR-HLA compound profile were compared between the two groups. P values were calculated using SPSS 13.0 software.

RESULTSFor the CML group, the frequencies of HLA-C2 ligand, 2DL1+HLA-C2 pair and HLA-B Bw4-80I were significantly lower than those of the control group, suggesting a protective effect against CML (HLA-C2: OR=0.386, 95%CI:0.240-0.620, P<0.01; 2DL1+HLA-C2: OR=0.316, 95%CI:0.191-0.525, P<0.01; HLA-B Bw4-80I: OR=0.576, 95%CI:0.384-0.862, P<0.01). The frequencies of KIR2DL1 ligand (HLA-C2) and KIR3DL1 ligand (HLA-B Bw4-80I) in the CML group were significantly lower than that of the control group, suggesting that the HLA-C2 and HLA-B Bw4-80I expression is probably decreased in the CML patient group, which led to reduced inhibitory signal and enhanced activating signal of KIR2DL1and/or KIR3DL1NK cells. Notably, the frequency of KIR-HLA compound profiles ID2 (KIR AA1-HLA-C1/C1-Bw6/Bw6-A3/11) in CML patients significantly increased in the CML patient group compared with the control group, suggesting that the KIR-HLA compound profiles ID2 may be a risk factor for CML (OR=2.163, 95%CI 1.198-3.906, P<0.01).

CONCLUSIONAbove analysis has identified certain protective and risk factors for CML from the KIR-HLA system, which may provide a clue for the pathogenesis of leukemia and development of individualized immune therapy.

Asian Continental Ancestry Group ; genetics ; China ; Gene Frequency ; Genetic Predisposition to Disease ; ethnology ; genetics ; Genotyping Techniques ; HLA Antigens ; genetics ; HLA-A Antigens ; genetics ; HLA-B Antigens ; genetics ; HLA-C Antigens ; genetics ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; ethnology ; genetics ; Odds Ratio ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Protein Isoforms ; genetics ; Receptors, KIR ; genetics ; Risk Factors

OBJECTIVETo investigate the relationship between polymorphisms of the growth arrest specific 6 (GAS6) gene and severe preeclampsia in a South West Han Chinese population.

METHODSBlood samples from 167 patients with severe preeclampsia and 312 normal pregnant women as controls from Han Chinese in Chengdu area were analyzed by polymerase chain reaction-restriction fragment length polymorphisms.

RESULTSC and T allele frequencies for +1332C/T site were 85.63% and 14.37% in the patient group, respectively, and 78.04% and 21.96% in control group, respectively. The TT genotype and variant T allelic frequencies of the +1332C/T polymorphism were significantly lower in patients with severe preeclampsia than in the control group (both P<0.05), and the odds ratio for the risk of severe preeclampsia was 0.602 (95%CI: 0.401-0.904) in carriers for the variant T allele (χ=6.045, P=0.014). G and A allele frequencies for 834+7G/A site were 72.75% and 27.25% in case group, respectively, and 74.36% and 25.64% in control group, respectively. The genotype and allele frequencies of the 834+7G/A polymorphism in patients with severe preeclampsia and controls showed no significant differences (both P>0.05). In addition, there was no significant association between the polymorphisms and blood pressure levels in the patient or control groups.

CONCLUSIONThe variant GAS6+1332 T allele is associated with a decreased risk for severe preeclampsia in a South West Han Chinese population. On the other hand, the 834+7G/A polymorphism has no effect on the severe preeclampsia.

Adult ; Alleles ; Asian Continental Ancestry Group ; genetics ; China ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; ethnology ; genetics ; Genotype ; Humans ; Intercellular Signaling Peptides and Proteins ; genetics ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Pre-Eclampsia ; ethnology ; genetics ; pathology ; Pregnancy ; Risk Factors ; Severity of Illness Index ; Young Adult