[Multiple Correspondence of Abnormal Birth History with Genetic and Environmental Risk Factors].

Objective To investigate the multiple correspondence of genetic and environmental risk factors with abnormal birth history and provide a scientific basis for improving the birth defects surveillance system and reducing the incidence of birth defects. Methods Data were collected from all the perinatal infants from 28-week-old fetuses to 7-day-old infants born in all the hospitals with obstetrical department in Xi'an from 2003 to 2015. Results A total of 1 236 937 perinatal infants were surveyed,including 10 619 with birth defects.The average incidence rate of birth defects was 0.86% (0.70%-1.15%).Multiple correspondence analysis showed that the women who had had 1 or 2 children with birth defects were associated with the history of spontaneous abortion,family history of birth defects,and history of exposure to toxic and harmful substances.The women who had had 3 or more children with birth defects showed stronger association with family history of birth defects.The birth defects in women with history of spontaneous abortion (257/10 619) was ranked in the order of congenital heart disease,polydactyly,neural tube defects,congenital hydrocephalus,cleft lip with cleft palate,and simple cleft lip.The birth defects in women who had given birth to children with birth defects (135/10 619) followed the order of cleft lip with cleft palate,anencephaly,hydrocephalus,neural tube defects,cleft lip,and talipes equinovarus. Conclusions Abnormal birth history is associated with family history of birth defects and history of exposure to environmental risk factors.Giving birth to three or more children with birth defects is highly correlated with the family history of birth defects.

Evaluation of the Sensitivity and Specificity of the New Clinical Diagnostic and Classification Criteria for Kashin-Beck Disease, an Endemic Osteoarthritis, in China.

This study aimed to evaluate the sensitivity and specificity of the new clinical diagnostic and classification criteria for Kashin-Beck disease (KBD) using six clinical markers: flexion of the distal part of fingers, deformed fingers, enlarged finger joints, shortened fingers, squat down, and dwarfism. One-third of the total population in Linyou County was sampled by stratified random sampling. The survey included baseline characteristics and clinical diagnoses, and the sensitivity and specificity of the new criteria was evaluated. We identified 3,459 KBD patients, of which 69 had early stage KBD, 1,952 had stage I, 1,132 had stage II, and 306 had stage III. A screening test classified enlarged finger joints as stage I KBD, with a sensitivity and specificity of 0.978 and 0.045, respectively. Shortened fingers were classified as stage II KBD, with a sensitivity and specificity of 0.969 and 0.844, respectively, and dwarfism was classified as stage III KBD with a sensitivity and specificity of 0.951 and 0.992, respectively. Serial screening test revealed that the new clinical classification of KBD classified stages I, II, and III KBD with sensitivities of 0.949, 0.945, and 0.925 and specificities of 0.967, 0.970, and 0.993, respectively. The screening tests revealed that enlarged finger joints, shortened fingers, and dwarfism were appropriate markers for the clinical diagnosis and classification of KBD with high sensitivity and specificity.

Polymorphisms of 23 Y-chromosome STR Loci in A Han Population in Jiangsu Province.

Objective To investigate the polymorphisms of 23 Y-STR loci in a Han population in Jiangsu province. Methods Blood samples were collected from 4821 unrelated healthy Han males in Jiangsu province. DNA templates were amplified by PowerPlex Y23 kit,and the amplification products were detected by 3500xL genetic analyzer. Then,we calculated the allele frequencies and gene diversities respectively,as well as the haplotype frequencies and haplotype diversities. Results The gene diversity of these 23 Y-STR loci ranged 0.4099-0.9696. A total of 4781 haplotypes were detected,of which 4743 were found once. The haplotype diversity was 0.99999812. Conclusion The 23 Y-STR loci used in this study are highly polymorphic in Han individuals in Jiangsu province and therefore suitable for population genetic study and forensic individual identification.

Competing risks analysis of external versus internal radiation in patients with hepatocellular carcinoma after controlling for immortal time bias.

PURPOSE: In cohort studies on liver cancer, there are often immortal time bias and interference of competing risk events. This study proposes to explore the role of internal and external radiotherapy for hepatocellular carcinoma using SEER data, using a competing risk model and controlling immortal time bias. METHODS: Data of SEER from 2004 till 2015 was included. To analyze whether there was a difference in survival between HCC (hepatocellular carcinoma) patients receiving external radiation and internal radiation, we used a competing risk analysis after excluding immortal time bias, and created a nomogram to assess the risk of cancer-specific death (CSD) in hepatocellular carcinoma patients receiving radiotherapy. RESULTS: Potential confounding factors adjusted, there was no significant difference in CSD between external and internal radiation therapy [HR and its 95% CI = 1.098 (0.874-1.380)]. The constructed nomogram performed better than the traditional AJCC model. The AUC and calibration curve results showed that this well-calibrated nomogram could be used to make clinical decisions regarding the prognosis and personalized treatment of hepatocellular carcinoma treated. There was no difference in the cumulative risk of death between patients with liver cancer treated with external radiation therapy and internal radiation therapy. CONCLUSION: There is no difference in the cumulative risk of death between patients with liver cancer treated with external radiation therapy and internal radiation therapy. The nomogram predicts the results more accurately. These results can be used to guide the choice of treatment options for patients with HCC and to predict their survival prognosis.

Meta-analysis of Association Studies of Selenoprotein Gene Polymorphism and Kashin-Beck Disease: an Updated Systematic Review.

To evaluate the association between selenoprotein gene polymorphisms and Kashin-Beck disease (KBD) susceptibility through a systematic review and updated meta-analysis. PubMed, Google Scholar, Cochrane library, and Chinese National Knowledge Infrastructure (CNKI) were electronically searched using the terms "selenoprotein" and "Kashin-Beck disease" or "KBD" with a search time from the establishment of the database to January 2021. The Newcastle-Ottawa Scale (NOS) was used for methodological quality evaluation of the included studies. Stata 14.0 software was used to pooled odds ratio (OR) and 95% confidence interval. There were a total of eight included case-control studies covering 2025 KBD patients and 1962 controls. Meta-analysis results show that the pooled odds ratios (OR) and 95% confidence intervals (CI) for DIO2 (rs225014) were 0.69 (0.52, 0.91), 0.69 (0.50, 0.96), and 0.72 (0.52, 0.99) in the allele, heterozygote, and dominant models, respectively. The OR and 95%CI for SEPS1 (-105G>A) were 2.47 (1.85, 3.29), 9.36 (4.58, 19.12), 2.17 (1.53, 3.08), and 8.60 (4.25, 17.38) in the allele, homozygote, dominant, and recessive models, respectively. In addition, the OR and 95%CI for Sep15 (rs5859) were 2.05 (1.06, 3.96) in the allele model. These results illustrate that there was a significant association between DIO2 (rs225014), SEPS1 (-105G>A), Sep15 (rs5859), and KBD. For GPX1 (rs1050450, rs1800668, rs3811699), DIO2 (rs225014, rs1352815, rs1388382), TrxR2 (rs1139793, rs5746841), GPX4 (rs713041, rs4807542), and SEPP1 (rs7579, 25191g/a), there was no significant statistical difference between the KBD and control groups (P>0.05). We conclude that the DIO2 (rs225014), SEPS1 (-105G>A), and Sep15 (rs5859) gene polymorphism are associated with susceptibility to KBD.

Prevention and control strategies for children Kashin-Beck disease in China: A systematic review and meta-analysis.

BACKGROUND: To evaluate prevention and control strategies for children with Kashin-Beck disease (KBD) in China through a systematic review and meta-analysis. METHODS: We conducted literature searches of articles indexed in Web of Knowledge, PubMed, Springerlink, Elsevier, the Chinese National Knowledge Infrastructure, and Wanfang data until February 2019. Search terms included "Kashin-Beck disease" or "KBD," and "improvement of water" or "change of grain" or "salt-rich selenium" or "comprehensive measures." Eligible studies were prospective trials of interventions in endemic area. Data extraction was performed by 2 independent authors using predefined data fields that also included quality evaluation. RESULTS: We screened 1183 potentially relevant articles, and included 22 studies that reported 24 trials, with data from 3700 healthy children and 2961 children KBD. The pooled odds ratios (ORs) and confidence intervals (95% CIs) for primary prevention new incidence in healthy children following interventions to comprehensive measures, change of grain, salt-rich selenium, and improvements of water were 0.15 (0.02, 0.95), 0.15 (0.03, 0.70), 0.19 (0.09, 0.38), and 0.20 (0.09, 0.42), respectively. The OR (95% CI) for clinical improvement in children KBD following interventions to improvement of water, salt-rich selenium, comprehensive measures, and change of grain were 5.03 (3.21, 7.89), 4.39 (3.15, 6.11), 2.98 (1.61, 5.52), and 2.35 (1.59, 3.47), respectively. All interventions showed significant differences and were effective (P < .05). CONCLUSION: Comprehensive measures and change of grain were the most effective measures in preventing new case, whereas improvement of water and salt-rich selenium resulted in clinical improvements in children KBD.

Comparison of Apoptosis and Autophagy in Human Chondrocytes Induced by the T-2 and HT-2 Toxins.

In this report, we have investigated the apoptosis and autophagy of chondrocytes induced by the T-2 and HT-2 toxins. The viability of chondrocytes was measured by the MTT assay. Malondialdehyde (MDA) and superoxide dismutase (SOD) kits were used to measure the oxidative stress of chondrocytes. The apoptosis of chondrocytes was measured using flow cytometry. Hoechst 33258 and MDC staining agents were introduced to analyze apoptosis and autophagy induction in chondrocytes, respectively. Protein expression of Bax, caspase-9, caspase-3, and Beclin1 was examined by western blotting analysis. The T-2 and HT-2 toxins significantly decreased the viability of chondrocytes in a time-dependent manner. The level of oxidative stress in chondrocytes induced by the T-2 toxin was significantly higher when compared with that of the HT-2 toxin. The apoptosis rate of chondrocytes induced by the T-2 toxin increased from 3.26 ± 1.03%, 18.38 ± 1.28%, 34.5 ± 1.40% to 49.67 ± 5.31%, whereas apoptosis rate of chondrocytes induced by the HT-2 toxin increased from 3.82 ± 1.03%, 11.61 ± 1.27%, 25.72 ± 2.95% to 36.28 ± 2.81% in 48 h incubation time. Hoechst 33258 staining confirmed that apoptosis of chondrocytes induced by the T-2 toxin was significantly higher than that observed when the chondrocytes were incubated with the HT-2 toxin. MDC staining revealed that the autophagy rate of chondrocytes induced by the T-2 toxin increased from 6.38% to 63.02%, whereas this rate induced by the HT-2 toxin changed from 6.08% to 53.33%. The expression levels of apoptosis and autophagy related proteins, Bax, caspase-9, caspase-3, and Beclin1 in chondrocytes induced by the T-2 toxin were significantly higher when compared with those levels induced by the HT-2 toxin.

[Analysis of genetic polymorphisms of 10 STR loci on chromosome 11 in a Shaanxi Han population].

D11S1760, D11S4102, D11S4116, D11S4207, D11S4162, D11S914, D11S4127, D11S917, D11S4146 and D11S915 of 10 short tandem repeat (STR) loci on chromosome 11 were analyzed by fluorescence-based gene scan technique to understand the genetic polymorphisms of those STR loci on chromosome 11 in a Han population in Shaanxi province. The results showed that the number of alleles and genotypes observed at loci D11S1760, D11S4102, D11S4116, D11S4207, D11S4162, D11S914, D11S4127, D11S917, D11S4146 and D11S915 were 17, 11, 15, 11, 4, 6, 7, 12, 11 and 13 for alleles and 41, 18, 36, 30, 8, 10, 16, 30, 29 and 32 for genotypes, respectively. All the 10 loci were in Hardy-Weinberg equilibrium. The heterozygosities of each STR locus was 86.72%, 67.95%, 83.90%, 85.96%, 58.18%, 57.63%, 72.60%, 72.73%, 77.87% and 86.40%. It concluded the 10 loci on chromosome 11 were relatively highly genetic polymorphic in Han populations and could provide useful markers for genetic studies.

[Logistic regression of the environmental risk factors in areas with Kashin-Beck disease].

OBJECTIVE: In order to find the factors influencing the prevalence of KBD, the possible nosogenetic factors of the family in Kashin-Beck disease (KBD) areas were analyzed. METHODS: The possible nosogenetic factors in mild, middle, high prevalence KBD areas were analyzed by logistic regression. The differences of the factors between three kinds of KBD areas were compared. RESULTS: Univariate analysis found sanitary conditions and meat-egg-mild were associated with KBD prevalence in all kinds KBD areas. Binary logistic analysis of multivariate suggested the possible nosogenetic factors were different in the different kind of KBD areas. It was wheat in mild prevalence area, sanitary conditions and meat-egg-mild in middle prevalence area, and sanitary conditions, rice and meat-egg-mild in high prevalence area. CONCLUSION: The risk factors are associated with the kind of KBD areas. The different preventive methods should be taken according to the kind of KBD areas, which will improve the effect of prevention.

[Analysis of genetic polymorphism of 7 STR loci on chromosome 12 in Shaanxi Han populations].

To analyze the genetic polymorphism of 7 STR loci (D12S1718,D12S1675, D12S358, D12S367, D12S1638, D12S1646 and D12S1682) on chromosome 12 in Shaanxi Hans. EDTA-blood specimens were collected from 80 unrelated individuals from Chinese Han population in Shaanxi province. The DNA samples were extracted and relevant fragments were amplified by polymerase chain reaction (PCR). The PCR products were analyzed by ABI 3100 Genetic Analyzer. The number of alleles and genotypes observed at loci D12S1718, D12S1675, D12S358, D12S367, D12S1638, D12S1646 and D12S1682 were 7, 10, 8, 8, 6, 9, 11 for alleles and 10, 17, 18, 18, 14, 18, and 26 for genotypes, respectively. The heterozygosities for the 7 STR loci were 44.28%, 66.10%, 78.89%, 77.89%, 73.69%, 74.55% and 82.39%, respectively. The distribution of allele frequencies of 7 STR loci on chromosome 12 was consistent with Hardy-Weinberg equilibrium and relatively high genetic polymorphism was observed in Shaanxi Han population.

[Chondrocyte apoptosis and the expression of Bcl-2, Bax, Fas and iNos in articular cartilage in Kashin-Beck disease].

OBJECTIVE: To investigate the characteristics of chondrocyte apoptosis and distribution of Bcl-2, Bax, Fas and iNos expressions in articular cartilage in Kashin-Beck disease (KBD). METHODS: Samples of articular cartilage were collected from 15 healthy children and 15 children with KBD diagnosed according to the Pathological Criteria of KBD Diagnosis in China. Chondrocyte apoptosis was detected by TUNEL method, and the articular chondrocytes positive for Bcl-2, Bax, Fas and iNos were stained by B-SA immunohistochemistry. RESULTS: The percentage of apoptotic chondrocytes positively stained by TUNEL in the middle layer of articular cartilage was significantly higher in KBD children than in the control group (33.60%+/-2.71% vs 1.33%+/-0.41%, t=11.59, P<0.01). Significant difference in Bcl-2, Bax, Fas and iNos expressions was observed between the upper, middle and deep layers of the articular cartilage of KBD children (F =73.49-114.42, P<0.01), and staining for Bcl-2, Bax, Fas and iNos in KBD children was prominent in the upper layer (41.93%+/-12.26%, 45.60%+/-15.78%, 53.60%+/-16.49%, and 45.47%+/-14.02%, respectively) and the middle layer (14.93%+/-3.50%, 13.87%+/-4.32%, 23.27%+/-4.83%, and 21.67%+/-6.82%, respectively) of the articular cartilage; the percentages of chondrocytes positively stained for Bcl-2, Bax, Fas and iNos were significantly higher than those of the control group (t=11.75-18.65, P<0.01). CONCLUSION: The percentages of apoptotic chondrocytes and chondrocytes positive for Bcl-2, Bax, Fas and iNos in the articular cartilage of children with KBD are significantly higher than those in healthy children.

[Multiple correspondence analysis on multiple metabolic abnormalities and family history in adults].

OBJECTIVE: To investigate the relationship between phenomenon of aggregation on multiple metabolic abnormalities and their family history. METHODS: A random cluster sampling was carried out to study the phenomenon of multiple metabolic abnormalities among the adult inhabitants in a county of Henan province. Questionnaire, physical examination and biochemical tests were admitted. Multiple correspondence analyses were used to explore the aggregation of multiple metabolic abnormalities among objects including hyperlipidemia, diabetes, coronary heart disease etc. Corresponding relationships between objects and their parents on multiple metabolic abnormalities were also analyzed. RESULTS: In total, 3901 people were investigated including 1428 (36.6%) males and 2473 (63.4%) females. The mean age of them was 32.8±6.3. Data showed that the Cronbach's α were 0.547 and 0.387 while Eigen values were 1.971 and 1.535 in two dimensions, regarding the correspondence analysis on their parents' multiple metabolic abnormalities. Cronbach's α levels were 0.598 and 0.457 together with Eigen values as 2.263 and 1.743 in two dimensions on the correspondence analysis of the objects' and their parents' multiple metabolic abnormalities. Results from Multiple correspondence analysis diagrams showed that there was an aggregation of variety metabolic abnormalities in both objects and their parents but not between objects and their parents or between fathers and mothers, though χ2 test showed a weak correlation between some of the categories. The ranges of contingency coefficients between metabolic abnormalities were 0.04 to 0.11, 0.04 to 0.08 and 0.04 to 0.11 between parents, objects and fathers, objects and mothers, respectively. When compared with simple obesity, the central obesity aggregated appeared more obviously with other metabolic abnormalities. CONCLUSION: Both objects and their parents showed an aggregation of variety metabolic abnormalities. Aggregation of central obesity showed more obvious on other metabolic abnormalities than the simple obesity. Family histories of metabolic abnormalities played a moderate role in the generations suffering from multiple metabolic abnormalities.

[Multilevel regression analysis on region cluster and risk factors of hypertension in the Chinese adult population].

OBJECTIVE: To analyze the region cluster and risk factors of hypertension in the Chinese adult population and to explore the application of multilevel regression model in the risk factors of hypertension. METHODS: Multi-stage random sampling technique was used to choose 15,540 individuals aged 35-74 years from 10 regions in China. Two-level logistic regression models were fitted under MLwiN 2.02 software. RESULTS: The region cluster of hypertension existed and variance portion coefficient was 3.1%. After adjusting for the age and gender, overall obese people (BMI> or =28 kg/m2) were 4.50 (95% CI: 4.00-5.06) times, overweight people (BMI=24-27.9 kg/m2) were 2.26 (95% CI: 2.07-2.46) times more likely to be hypertensive as compared with those of normal BMI (18.5-23.9 kg/m2), and those centrally obesive people (Waist circumference > or =85 cm in male or 80 cm in female) were 2.62 (95% CI: 2.42-2.83) times more likely to be hypertensive as compared with those of normal WC. The age-and gender-adjusted odds ratios (ORs) of triglyceride (TG), serum total cholesterol (TC), glucose, low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C) and drinking alcohol were 2.10 (95% CI: 1.89-2.33), 2.08 (95% CI: 1.84-2.35), 1.85 (95% CI: 1.60-2.14), 1.58 (95% CI: 1.38-1.81), 1.49 (95% CI: 1.32-1.69) and 1.15 (95% CI: 1.05-1.27), respectively. CONCLUSION: The prevalence of hypertension was not only affected by individual risk factors, such as obesity, drinking alcohol, abnormal glucose and serum lipids profile, but also affected by the geographic environment where people resided in. Population-and risk factors targeted strategies, proved a promising way to reduce individual risk of hypertension in the primary prevention of hypertension.

Chondrocyte apoptosis and expression of Bcl-2, Bax, Fas, and iNOS in articular cartilage in patients with Kashin-Beck disease.

OBJECTIVE: Kashin-Beck disease (KBD) is a chronic, endemic osteochondropathy principally occurring in children. We investigated apoptotic chondrocyte death and the expression of Bcl-2, Bax, Fas, and inducible nitric oxide synthase (iNOS) in articular cartilage from patients with KBD in order to determine the pathogenesis of chondronecrosis in KBD. METHODS: Samples of articular cartilage were divided into 2 groups: control children (15 samples from 15 cases), and children with KBD (15 samples from 15 cases). KBD patients were diagnosed according to "Pathological Criteria to Diagnose KBD in China." Chondrocyte apoptosis was detected by TUNEL staining, and Bcl-2, Bax, Fas, and iNOS-positive articular chondrocytes were stained by immunohistochemistry. Articular cartilage was classified in 3 zones, and positive findings were counted by light microscopy for cytoplasmic staining by polyclonal antibodies of Bcl-2, Bax, Fas, and iNOS and apoptotic chondrocytes by TUNEL. RESULTS: The percentage of positive apoptotic chondrocytes stained by TUNEL in the middle zone of articular cartilage from the KBD patient group (33.60% +/- 2.71%) was higher than that of controls (1.33% +/- 0.41%; p < 0.01). The percentages of chondrocytes staining for Bcl-2, Bax, Fas, and iNOS in KBD patients were significantly higher than in controls (p < 0.01); the remarkable difference in Bcl-2, Bax, Fas, and iNOS expression among the upper, middle, and deep cartilage zones was also seen in KBD articular cartilage (p < 0.01); and staining for Bcl-2, Bax, Fas, and iNOS in KBD patients was prominent in the upper zone (41.93% +/- 12.26%, 45.60% +/- 15.78%, 53.60% +/- 16.49%, 45.47% +/- 14.02%, respectively) and the middle zone (14.93% +/- 3.50%, 13.87% +/- 4.32%, 23.27% +/- 4.83%, 21.67% +/- 6.82%) of articular cartilage. CONCLUSION: The apoptotic chondrocytes and Bcl-2, Bax, Fas, and iNOS-positive chondrocytes were significantly more numerous in patients with KBD than in controls.

[Analysis of allele frequencies of 6 short tandem repeat loci on chromosome 12 in patients with Kashing-Beck disease].

OBJECTIVE: To analyze the allele frequencies of 6 STR loci (D12S358, D12S1675, D12S1663, D12S1697, D12S16725 and D12S1613) on chromosome 12 among KBD patients and residents in the KBD and non-KBD areas. METHODS: EDTA-blood samples were collected from 146 unrelated Chinese Han individuals in Shaanxi Province including 57 KBD patients, 48 control subjects living in the Kashing-Beck disease(KBD) area and 48 in the non-KBD area. The DNA samples were extracted and amplified by PCR, and the PCR products were analyzed by ABI 3100 Genetic Analyzer. RESULTS: In KBD patients, the allele number for the 6 STR loci (D12S358, D12S1675, D12S1663, D12S1697, D12S16725 and D12S1613) was 7, 7, 7, 10, 12 and 8, and the genotype number were 13, 12, 9, 17, 19 and 10, respectively; in the residents in KBD area, the allele number was 7, 5, 7, 9, 13 and 9, and the genotype number 12, 10, 12, 19, 16 and 8; in residents in non-KBD area, the allele number was 7, 5, 5, 12, 8 and 9, and the genotype number 17, 16, 8, 22, 14 and 8. There were significant differences in the allele frequencies in the D12S1725 loci between KBD patients and residents living in KBD area (P=0.0119) and the non-KBD area (P=0.0050), but no significant difference in other 5 loci among the 3 groups. CONCLUSION: KBD patients have significantly different allele distribution patterns in the D12S1725 loci from the control subjects.

[Analysis on allele frequencies of 7 short tandem repeat loci of Kashing-Beck disease patients on].

OBJECTIVE: To analyze the allele frequencies of 7 short tandem repeat (STR) loci (D12S1718, D12S1675, D12S358, D12S367, D12S1638, D12S1646 and D12S1682) on chromosome 12 among Kashing-Beck disease (KBD) patients and the control population living in the KBD areas and non-KBD area. METHODS: EDTA-blood specimens were collected from 102 unrelated individuals of Chinese Han population in Shaanxi province including 29 KBD patients,30 controls living in the KBD area and 43 living in the non-KBD area. DNA samples were extracted using the Wizard Genomic DNA purification kit (http://www. Promega. com) and were amplified by polymerase chain reaction (PCR) technique. The PCR products were analyzed by ABI 3100 Genetic Analyzer. RESULTS: (1) In KBD patients group, the allele number for 7 STR loci were 4,7,7,8,5,5 and 7, the genotype number were 5,12,13,11,10,9 and 13; (2) In the control population living in KBD area, the allele number for 7 STR loci were 4,9,7,6,6,6 and 8,t he genotype number were 5,10,12,14,12,9 and 13;(3) In the control population living in the non-KBD area, the allele number for 7 STR loci were 7,9,7,7,5,8 and 11, the genotype number were 9,16, 17,16,12,15 and 20;(4) Compared with the allele frequencies among three groups, there were significant differences between KBD patients and the controls living in the KBD area (D12S367: P = 0.034; D12S1638: P = 0.041) and the controls living in the non-KBD area (D12S367: P = 0. 029; D12S1638: P= 0 .028) in the D12S367 and D12S1638 loci; (5) There were significant differences among KBD patients (P = 0.036), controls living in the KBD area (P = 0.039) and controls living in the non-KBD area in the D12S1646. CONCLUSION: There was significant difference between KBD patients and the controls in the D12S367 and D12S1638 loci.

[Epidemiological characters of Kashin-Beck disease in nuclear families].

OBJECTIVE: To understand the epidemiological characters of Kashin-Beck disease (KBD) in nuclear families, and to probe the pathogenetic mechanism and its etiology. METHODS: Clinical diagnosis was used to identify nuclear families in KBD areas. Based on the clinical manifestation of parents in the nuclear families, 4938 nuclear families were divided into four types. According to the seriousness in KBD areas, prevalence of offspring and family aggregation in low, middle and high prevalence areas were formed and data was analyzed. RESULTS: (1) Type of nuclear family was associated to the degree of disease seriousness in the areas. (2) There was an aggregation of disease among the offsprings in the nuclear families of medium and high prevalence diseased areas. (3) There was an aggregation of offspring in the nuclear family of both parents or father alone who were suffered from KBD. (4) The prevalence of offspring in nuclear family of both parents with KBD was obviously higher than that in the nuclear family with single parent or neither having KBD. CONCLUSION: The degree of diseased areas seemed to influence the seriousness of KBD in individuals. The prevalence of parents in nuclear families might play a role in the pathogenesis of KBD.