scholarly journals Two single nucleotide polymorphisms in the GDF5 gene are associated with development dysplasia of the hip in Chinese female population

2013 ◽  
Vol 56 (11) ◽  
pp. 1063-1065 ◽  
Author(s):  
LiXi Zhao ◽  
Hong Pan ◽  
Jing Wang ◽  
Zhi Cheng ◽  
LongFei Cheng ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Female Population ◽  
Dysplasia Of The Hip ◽  
Gdf5 Gene

scholarly journals Genetic Study of IL6, GDF5 and PAPPA2 in Association with Developmental Dysplasia of the Hip

Genes ◽  
2021 ◽  
Vol 12 (7) ◽  
pp. 986
Author(s):  
Stefan Harsanyi ◽  
Radoslav Zamborsky ◽  
Lubica Krajciova ◽  
Milan Kokavec ◽  
Lubos Danisovic
Keyword(s):  
Autosomal Dominant ◽  
Developmental Dysplasia ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Dominant Type ◽  
Skeletal Disorders ◽  
Autosomal Dominant Type ◽  
Dysplasia Of The Hip ◽  
Il6 Gene ◽  
Gdf5 Gene

Background: Developmental dysplasia of the hip (DDH) is one of the most prevalent skeletal disorders. DDH is considered a pathologic condition with polygenic background, but environmental and mechanic factors significantly contribute to its multifactorial etiology. Inheritance consistent with autosomal dominant type has also been observed. Single-nucleotide polymorphisms (SNPs) in various genes mostly related to formation of connective tissue are studied for a possible association with DDH. Methods: We genotyped three SNPs, rs1800796 located in the promoter region of the IL6 gene, rs143383 located in the 5′ untranslated region (UTR) of the GDF5 gene and rs726252 located in the fifth intron of the PAPPA2 gene. The study consisted of 45 subjects with DDH and 85 controls from all regions of Slovakia. Results: Association between DDH occurrence and studied genotypes affected by aforementioned polymorphisms was confirmed in the case of rs143383 in the GDF5 gene (p = 0.047), where the T allele was over-expressed in the study group. Meanwhile, in the matter of IL6 and PAPPA2, we found no association with DDH (p = 0.363 and p = 0.478, respectively). Conclusions: These results suggest that there is an association between DDH and GDF5 polymorphisms and that the T allele is more frequently presents in patients suffering from DDH.

scholarly journals Association of single nucleotide polymorphisms rs63751445 of the MSH2 gene and rs863224614 of the MSH6 gene with susceptibility to breast cancer in samples from Northeast Brazil

2020 ◽  
Vol 9 (9) ◽  
pp. e368997007
Author(s):  
Agnaldo Luiz do Nascimento ◽  
Mayara dos Santos Maia ◽  
Poliane da Silva Calixto ◽  
Maria Isabela Ferreira de Araújo ◽  
Augusto Monteiro de Souza ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Histopathological Examination ◽  
Nucleotide Polymorphisms ◽  
Msh2 Gene ◽  
Chi Square ◽  
Single Nucleotide ◽  
Female Population ◽  
Specific Pcr ◽  
Msh6 Gene

Breast cancer (BC) is the cancer with the greatest epidemiological impact on the female population worldwide. The disease has a multifactorial etiology, with genetic implications that are not fully understood. In this context, genetic changes in the mismatch repair mechanism are notable for their potential relationship with BC, especially the single nucleotide polymorphisms (SNPs), which are the most common type of genetic variation. The aim of this study was to evaluate for the first time the influence of the SNPs rs63751445 (A>G) of the MSH2 gene and rs863224614 (T>G) of the MSH6 gene for susceptibility to CM. For that, 100 samples obtained by histopathological examination of patients from the Northeast region of Brazil were used. The methodology used was the Didesoxy Single Allele Specific PCR (DSASP) method. Statistical analysis was performed by comparison with the control population (population in Hardy-Weinberg equilibrium) using Pearson's Chi-square and Fischer's exact tests. It was concluded that these two SNPs may be associated with susceptibility to BC in the studied population.

scholarly journals Single-Nucleotide Polymorphisms in One-Carbon Metabolism Genes, Mediterranean Diet and the Risk of Pre- and Postmenopausal Breast Cancer

2020 ◽  
Author(s):  
Shang Cao ◽  
Zheng Zhu ◽  
Jinyi Zhou ◽  
Wei Li ◽  
Yunqiu Dong ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Carbon Metabolism ◽  
Dietary Pattern ◽  
Postmenopausal Breast Cancer ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Female Population ◽  
High Adherence ◽  
One Carbon Metabolism

Abstract Background: One-carbon metabolism pathway could interfere with the carcinogenesis of breast cancer (BC). Dietary pattern plays an important role in one-carbon metabolism linking the combination of dietary micronutrients. Methods: We assessed associations between single-nucleotide polymorphisms (SNPs) of one-carbon metabolism, adherence to Mediterranean dietary pattern (MDP) and BC risk from a case-control study (818 cases, 935 controls) among Chinese female population. The genotyping of 15 SNPs in eleven one-carbon metabolism-related genes (MTHFD1, MTRR, MAT1A, MAT2B, FOLR1, CBS, GLS, DNMT3B, UNG2, ADA, CDO1) were performed. Dietary measurements were assessed by a validated food-frequency questionnaire. Gene-diet interactions were analyzed. Results: No evidence demonstrated SNPs of one-carbon metabolism or their haplotypes were associated with BC risk. The associations between high adherence to the MDP and risk reduction of BC were influenced by the SNPs genotype, with the increasing number of variant allele in MTHFD1 (rs11627387), MTHFD1 (rs2281603), MTRR (rs16879334), MTRR (rs2287780), MAT2B (rs4869087), FOLR1 (rs10501409), UNG2 (rs231622) and ADA (rs244072), the protective effect against BC risk from high adherence to the MDP was gradually weakened and disappeared, while for MTHFD1 (rs8003567) and CDO1 (rs34869) genotypes, women who take homozygous allele were less affected by adherence to the MDP than to women who take heterozygotes allele. Significant gene-diet interactions were observed between MTHFD1 (rs8003567) polymorphism and MDP on BC risk. Conclusions: SNPs of one-carbon metabolism genes modify the effect of high adherence to MDP against BC risk in Chinese women, as potential effect modifiers. Genetic variants may influence the association between diet and BC risk.

scholarly journals Single-nucleotide polymorphisms in one-carbon metabolism genes, Mediterranean diet and the risk of pre- and postmenopausal breast cancer

2020 ◽  
Author(s):  
Shang Cao ◽  
Zheng Zhu ◽  
Jinyi Zhou ◽  
Wei Li ◽  
Yunqiu Dong ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Carbon Metabolism ◽  
Dietary Pattern ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Female Population ◽  
Mediterranean Dietary Pattern ◽  
High Adherence ◽  
One Carbon Metabolism

Abstract Background: One-carbon metabolism pathway could interfere with the carcinogenesis of breast cancer (BC). Dietary pattern plays an important role in one-carbon metabolism linking the combination of dietary micronutrients. Methods: We assessed associations between single-nucleotide polymorphisms (SNPs) of one-carbon metabolism, adherence to Mediterranean dietary pattern (MDP) and BC risk from a case-control study (818 cases, 935 controls) among Chinese female population. The genotyping of 10 SNPs in seven one-carbon metabolism-related genes (MTHFD1, MTRR, MAT2B, CDO1, FOLR1, UNG2, ADA) were performed. Dietary intake measurements were assessed by a validated food-frequency questionnaire. Gene-diet interactions were analyzed. Results: No evidence demonstrated SNPs of one-carbon metabolism or their haplotypes were associated with BC risk. High adherence to the Mediterranean dietary pattern decreased the risk of breast cancer among post- but not premenopausal women and the association was influenced by the SNPs genotype, with the increasing number of variant allele in MTHFD1 (rs11627387), MTHFD1 (rs2281603), MTRR (rs16879334), MTRR (rs2287780), MAT2B (rs4869087), FOLR1 (rs10501409), UNG2 (rs231622) and ADA (rs244072). The protective effect against BC risk from high adherence to the MDP was gradually weakened and disappeared. For MTHFD1 (rs8003567) and CDO1 (rs34869) genotypes, women with homozygous were less affected by adherence to the MDP than to women who with heterozygotes. No significant gene-diet interactions were observed.Conclusions: SNPs of one-carbon metabolism genes modify the effect of high adherence to MDP against BC risk in Chinese women, as potential effect modifiers. Genetic variants may influence the association between diet and BC risk.

Development of a simple method for the determination of single nucleotide polymorphisms

2010 ◽  
Vol 34 (8) ◽  
pp. S75-S75
Author(s):  
Weifeng Zhu ◽  
Zhuoqi Liu ◽  
Daya Luo ◽  
Xinyao Wu ◽  
Fusheng Wan
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Simple Method ◽  
Single Nucleotide

Sex Differences in Childhood Associations between DNA Markers and General Cognitive Ability

2007 ◽  
Vol 28 (3) ◽  
pp. 161-164 ◽  
Author(s):  
Rosalind Arden ◽  
Nicole Harlaar ◽  
Robert Plomin
Keyword(s):  
Sex Differences ◽  
Single Nucleotide Polymorphisms ◽  
Cognitive Ability ◽  
Dna Markers ◽  
Community Sample ◽  
Nucleotide Polymorphisms ◽  
General Cognitive Ability ◽  
Single Nucleotide ◽  
The Difference

Abstract. An association between intelligence at age 7 and a set of five single-nucleotide polymorphisms (SNPs) has been identified and replicated. We used this composite SNP set to investigate whether the associations differ between boys and girls for general cognitive ability at ages 2, 3, 4, 7, 9, and 10 years. In a longitudinal community sample of British twins aged 2-10 (n > 4,000 individuals), we found that the SNP set is more strongly associated with intelligence in males than in females at ages 7, 9, and 10 and the difference is significant at 10. If this finding replicates in other studies, these results will constitute the first evidence of the same autosomal genes acting differently on intelligence in the two sexes.

Sign in / Sign up

Export Citation Format

Share Document