In population genetics, the absence of the departure from Hardy-Weinberg equilibrium (HWE) is usually tested when a population study of a certain DNA marker is performed to show the observed allele frequencies represent those of the whole population. The goodness-of-fit test (chi 2 test) assuming chi 2 approximation has frequently been used with classical blood type markers having a few alleles. However, new tests suitable for DNA markers having many alleles, such as homozygosity test, likelihood ratio test and Guo-Thompson's (G-T') exact test, have recently been devised. In the present study, appropriate tests for HWE was studied using population data of 206 Japanese individuals with 9 different short tandem repeat loci. Firstly, we found that the recommendation of NRC II for the treatment of rare allele frequencies (If a bin in the database contains fewer than five entries, it is pooled with adjacent bins so that no bin has fewer than five) is quite reasonable for personal identification in forensic sciences. Secondly, we proposed that homozygosity test, likelihood ratio test and G-T's exact test should be applied altogether and HWE of the sample population should be valid only when all of the three tests were cleared.
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BMC Pediatr
January 2025
Department of Orthodontics, University Hospital Bonn, Medical Faculty, Welschnonnenstr. 17, 53111, Bonn, Germany.
Background: Children with non-syndromic cleft lip with or without palate (CL ± P) may present alterations in dental development. The purpose of this cross-sectional study was to compare the dental age (DA) between children with and without CL ± P, and whether single nucleotide polymorphisms (SNPs) in genes encoding growth factors are associated with DA variations.
Methods: Children aged between 5 and 14 years with and without CL ± P were recruited to participate in this study.
Hua Xi Kou Qiang Yi Xue Za Zhi
February 2025
State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases & Dept. of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu 610041, China.
Objectives: This study aims to explore the association between single nucleotide polymorphisms (SNPs) loci near the haplotype region hg19 chr9:100560865-100660865 of the forkhead box E1 (FOXE1) gene and the occurrence of non-syndromic cleft lip with or without cleft palate (NSCL/P) in western Han Chinese population.
Methods: In the first stage, our study recruited 159 NSCL/P patients and performed targeted region sequencing to screen SNPs loci near the haplotype region of the FOXE1 gene associated with NSCL/P. In the second stage, we selected 21 common SNPs and re-enrolled 1 000 non-syndromic cleft lip only (NSCLO) patients, 1 000 non-syndromic cleft palate only (NSCPO) patients, and 1 000 normal controls to verify the association.
World J Gastrointest Oncol
January 2025
Department of Thoracic Surgery, Zhongshan Hospital Affiliated to Fudan University, Shanghai 200032, China.
Background: Transforming growth factor-β (TGF-β) superfamily plays an important role in tumor progression and metastasis. Activin A receptor type 1C (ACVR1C) is a TGF-β type I receptor that is involved in tumorigenesis through binding to different ligands.
Aim: To evaluate the correlation between single nucleotide polymorphisms (SNPs) of ACVR1C and susceptibility to esophageal squamous cell carcinoma (ESCC) in Chinese Han population.
Genet Test Mol Biomarkers
January 2025
Laboratory of Genomics and Human Genetics, 1, Place Louis Pasteur, Institut Pasteur du Maroc, Casablanca, Morocco.
Infertility affects 10-15% of couples worldwide, with male factors accounting for half of cases. Environmental, behavioral, and genetic problems contribute to spermatogenic failure in 30% of idiopathic male infertility cases. Other factors, such as oxidative stress (OS), cause impaired spermatogenesis, abnormal sperm morphology, and reduced motility, eventually triggering male infertility.
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December 2024
Cardiology Oncology Collaborative Research Groupe, Faculty of Medicine, University of Algiers Benyoucef Benkhedda, Algiers, DZA.
Introduction: Research on the association between blood groups and cardiovascular diseases (CVDs) in Africa, including Algeria, is notably limited, with a primary focus on blood donors. This narrow scope hinders a comprehensive understanding of the genetic diversity of blood groups and their potential links to CVD risk within the African context. To bridge this knowledge gap, this study proposes to investigate the distribution of blood group genotypes and their association with CVD prevalence, aiming to enhance knowledge within the African context and contribute to global insights into the relationship between blood groups and CVD.
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