Yanjiao Li, Qi Liu, Qiuye Ma, Zhaoxia Ma, Juan Chen, An Yu, Changguo Ma, Lihua Qiu, Hong Shi, Hongsuo Liang, Min Hu
BACKGROUND: Primary osteoporosis is a systemic skeletal disease characterized by reduced bone mass and vulnerability to fractures. The genetics of osteoporosis in the Chinese population remain unclear, which hinders the prevention and treatment of osteoporosis in China. This study aimed to explore the susceptibility genes and the roles played by their variants in osteoporosis. METHODS: Blood samples were collected from 45 osteoporosis patients and 30 healthy individuals, and genome-wide association study was performed on array data...
December 8, 2022: Annals of Human Genetics
Naci Cine, Cansu Ugurtas, Merve Gokbayrak, Duygu Aydin, Gulhan Demir, Seda Kuru, Deniz Sunnetci-Akkoyunlu, Seda Eren-Keskin, Turgay Simsek, Devrim Cabuk, Maksut Gorkem Aksu, Nuh Zafer Canturk, Hakan Savli
INTRODUCTION: Breast cancer is the most prevalent malignancy in women worldwide. Although pathogenic variants in the BRCA1/2 genes are responsible for the majority of hereditary breast cancer cases, a substantial proportion of patients are negative for pathogenic variations in these genes. In cancers, the signal transduction pathways of the cell are usually affected first. Therefore, this study aimed to detect and classified genetic variations in non-BRCA signaling genes and investigate the underlying genetic causes of susceptibility to breast cancer...
December 7, 2022: Annals of Human Genetics
Bin Li, Libing Xiao, Danhong Ye, Siyi Zhong, Qiaoyu Yan
INTRODUCTION: After years of development, digital replantation has become a mature treatment. METHODS: Although the NOTUM gene has been shown to be involved in the formation of vertebrate nerves, whether it contributes to the osteogenic mechanism of severed finger replantation remains unknown. In response to this, this study investigates the specific details of NOTUM involvement in replantation of severed fingers. RESULTS: The experimental subjects are patients with replantation of severed fingers from Shulan International Medical College of Shulan (Hangzhou) Hospital affiliated to Zhejiang Shuren University...
December 5, 2022: Annals of Human Genetics
Sami Zaqout, Atef Mannaa, Oliver Klein, Angelika Krajewski, Joachim Klose, Lena Luise-Becker, Ahmed Elsabagh, Khaled Ferih, Nadine Kraemer, Ethiraj Ravindran, Konstantin Makridis, Angela M Kaindl
BACKGROUND/AIM: Autosomal recessive primary microcephaly (MCPH) is a rare and genetically heterogeneous group of disorders characterized by intellectual disability and microcephaly at birth, classically without further organ involvement. MCPH3 is caused by biallelic variants in the cyclin-dependent kinase 5 regulatory subunit-associated protein 2 gene CDK5RAP2. In the corresponding Cdk5rap2 mutant or Hertwig's anemia mouse model, congenital microcephaly as well as defects in the hematopoietic system, germ cells and eyes have been reported...
November 29, 2022: Annals of Human Genetics
Qiao-Miao Zhou, Fan Jiang, Jing Xu, Dan Lin, Ren-Liang Huang, Jian-Ying Zhou, Yan-Xia Qu, Dong-Zhi Li
INTRODUCTION: The α-globin fusion gene between the HBA2 and HBAP1 genes becomes clinically important in thalassemia screening because this fusion gene can cause severe hemoglobin (Hb) H disease when combining with α0 -thalassemia (α0 -thal). Due to its uncommon rearrangement in the α gene cluster without dosage changes, this fusion gene is undetectable by common molecular testing approaches used for α-thal diagnosis. METHODS: In this study, we used the single-molecule real-time (SMRT) sequencing technique to detect this fusion gene in 23 carriers identified by next-generation sequencing (NGS) among 16,504 screened individuals...
November 1, 2022: Annals of Human Genetics
Nzar A A Shwan, Eric C Moise, Paula E Necsoiu, Amy J Farr, Daniel P Gale, Jonathan Barratt, John A L Armour
BACKGROUND: Immunoglobulin A (IgA) nephropathy is a disorder of the immune system affecting kidney function, and genome-wide association studies (GWAS) have defined numerous loci with associated variation, all implicating components of innate or adaptive immunity. Among these, single nucleotide polymorphisms (SNPs) in a region including the multiallelic copy number variation (CNV) of DEFA1A3 are associated with IgA nephropathy in both European and Asian populations. At present, the precise factors underlying the observed associations at DEFA1A3 have not been defined, although the key alleles differ between Asian and European populations, and multiple independent factors may be involved even within a single population...
October 10, 2022: Annals of Human Genetics
Asma-Lamia Boumehdi, Farid Cherbal, Feriel Khider, Mohammed Oukkal, Hassen Mahfouf, Ferhat Zebboudj, Mustapha Maaoui
Colorectal cancer is the second leading cause of cancer-related deaths in women and men in Algeria. Lynch syndrome (LS) is an autosomal dominant disease caused by heterozygous germline pathogenic variants in mismatch repair genes (MMR) and frequently predisposes to colorectal cancer. However, data about MMR germline pathogenic variants in Algerian patients are limited. This first nationwide study aims to describe clinicopathologic features and germline variants in MMR genes in Algerian families with suspected LS...
September 8, 2022: Annals of Human Genetics
Navneesh Yadav, Laxmi Kirola, Thenral S Geetha, Kirti Mittal, Jayarama Kadandale, Yuval Yogev, Ohad S Birk, Neerja Gupta, Prahlad Balakrishnan, Manisha Jana, Meena Gupta, Madhulika Kabra, Bittianda Kuttapa Thelma
Primary microcephaly and Seckel syndrome are rare genetically and clinically heterogenous brain development disorders. Several exonic/splicing mutations are reported for these disorders to date, but ∼40% of all cases remain unexplained. We aimed to uncover the genetic correlate(s) in a family of multiple siblings with microcephaly. A novel homozygous intronic variant (NC_000013.10:g.25459823T>C) in CENPJ (13q12) segregating with all four affected male siblings was identified by exome sequencing and validated by targeted linkage approach (logarithm of the odds score 1...
September 2022: Annals of Human Genetics
José Francisco Zambrano-Zaragoza, Alejandro Vázquez-Reyes, Ma de Jesús Durán-Avelar, Jorge Gutiérrez-Franco, Norberto Vibanco-Pérez, Juan Manuel Agraz-Cibrián, Horacio Pérez-Cambero, Miriam Fabiola Ayón-Pérez
AIM: Nonalcoholic fatty liver disease (NAFLD) is a complex metabolic condition in which both lifestyle and genetic factors have a pathogenic role. The LEP gene encodes leptin, which regulates appetite, body weight, and several metabolic functions. Proopiomelanocortin (POMC), regulates food intake and energy balance. The aim of the study was to determine partial or complete deletions of genes associated with obesity in patients diagnosed with NAFLD. MATERIAL AND METHODS: Blood samples and DNA from 43 individuals diagnosed with NAFLD by ultrasonographic technique (Fibroscan) were obtained...
September 2022: Annals of Human Genetics
Katherine Alexis Markel, David Curtis
BACKGROUND: A number of genes have been implicated in rare familial syndromes which have migraine as part of their phenotype but these genes have not previously been implicated in the common form of migraine. METHODS: Among exome-sequenced participants in the UK Biobank, we identified 7194 migraine cases with the remaining 193,433 participants classified as controls. We investigated rare variants in 10 genes previously reported to be implicated in conditions with migraine as a prominent part of the phenotype and carried out gene- and variant-based tests for association...
August 31, 2022: Annals of Human Genetics
Shabir Hussain, Shoaib Nawaz, Hammal Khan, Anushree Acharya, Isabelle Schrauwen, Wasim Ahmad, Suzanne M Leal
Orofaciodigital syndrome (OFD) is clinically heterogeneous and is characterized by abnormalities in the oral cavity, facial features, digits, and central nervous system. At least 18 subtypes of the condition have been described in the literature. OFD is caused by variants in several genes with overlapping phenotypes. We studied a consanguineous Pakistani family with two affected siblings with an atypical form of OFD type 4 (OFD4). In addition to the typical features of OFD4 that include limb defects and growth retardation, the siblings displayed rare features of scaphocephaly and seizures...
August 30, 2022: Annals of Human Genetics
Sang-Mi Kim, Eu Seon Noh, Jong-Ho Park, Hyung-Doo Park, Soo-Youn Lee, Ja-Hyun Jang, Sung Yoon Cho
Mucopolysaccharidosis type IVA (MPS IVA; Morquio syndrome type A) is an autosomal recessive disorder caused by defects in the lysosomal hydrolase N-acetylgalactosamine-6-sulfatase (GALNS) gene, leading to progressive systemic skeletal dysplasia. Early diagnosis and early intervention with enzyme replacement therapy are crucial for improving outcomes in these patients. However, a relatively high number of patients are genetically undiagnosed due to high allelic heterogeneity and the absence of robust functional evidence for most variants of the GALNS gene...
August 24, 2022: Annals of Human Genetics
Diana María Hohl, Rebeca González, Gabriela Paula Di Santo Meztler, Jessica Patiño-Rico, Cristina Dejean, Sergio Avena, María De Los Ángeles Gutiérrez, Cecilia Inés Catanesi
Eye color prediction based on an individual's genetic information is of interest in the field of forensic genetics. In recent years, researchers have studied different genes and markers associated with this externally visible characteristic and have developed methods for its prediction. The IrisPlex represents a validated tool for homogeneous populations, though its applicability in populations of mixed ancestry is limited, mainly regarding the prediction of intermediate eye colors. With the aim of validating the applicability of this system in an admixed population from Argentina (n = 302), we analyzed the six single nucleotide variants used in that multiplex for eye color and four additional SNPs, and evaluated its prediction ability...
August 10, 2022: Annals of Human Genetics
T Lee Gilman, Matthew T Ford, Aaron M Jasnow, Karin G Coifman
Despite the robustness of DRD4 polymorphism associations with brain-based behavioral characteristics in candidate gene research, investigations have minimally explored associations between these polymorphisms and emotional responses. In particular, the prevalent single nucleotide polymorphism (SNP) -521C/T (rs1800955) in the promoter region of DRD4 remains unexplored relative to emotions. Here, two independent samples were evaluated using different emotion elicitation tasks involving social stimuli: Study 1 (N = 120) evoked positive and negative emotional responses to validated film clips; Study 2 (N = 122) utilized Cyberball to simulate social rejection and acceptance...
July 2022: Annals of Human Genetics
Bolin Tang, Jun Han, Fen Wang, Xiang Li, Chaoyang Zhao
Acute myelitis (AM) is a rare neuro-immune spinal cord disease. This study sought to explore the transcription level of glucocorticoid (GC) receptors α and β (GR-α/GR-β) in peripheral blood mononuclear cells (PBMCs) and their correlation with GC efficacy and sensitivity in AM patients. AM patients were grouped into the GC-sensitive group (N = 80) and GC-refractory group (N = 67). The GR-α and GR-β mRNA levels in PBMCs were detected. The differentiating value of GR-α, GR-β, and GR-α + GR-β on GC sensitivity and resistance in AM patients was assessed...
June 22, 2022: Annals of Human Genetics
Xiaonan Hu, Zhen Meng
One of the critical issues in genetic association studies is to evaluate the risk of a disease associated with gene-gene or gene-environment interactions. The commonly employed procedures are derived by assigning a particular set of scores to genotypes. However, the underlying genetic models of inheritance are rarely known in practice. Misspecifying a genetic model may result in power loss. By using some potential genetic variables to separate the genotype coding and genetic model parameter, we construct a model-embedded score test (MEST)...
May 18, 2022: Annals of Human Genetics
Jiarui Cui, Wei Peng, Ting Yi, Ping Gao, Mingze Zhou, Tianmin Zhu
BACKGROUND: The circadian locomotor output cycles kaput (CLOCK) gene and the alcohol dehydrogenase 4 (ADH4) gene are promising candidates for susceptibility to cluster headaches (CH). Associations of the three single nucleotide polymorphisms (SNPs)-CLOCK SNP rs1801260 and ADH4 SNPs rs1800759, and rs1126671-with CH were studied previously, but the results were inconsistent. METHODS: Associations between the three SNPs (rs1801260, rs1126671, and rs1800759) and CH risk were separately assessed by pooled odds ratios (ORs) along with 95% confidence intervals (95% CIs) based on five different genetic models...
April 18, 2022: Annals of Human Genetics
Shengyu Liao, Shuxia Guo, Rulin Ma, Jia He, Yizhong Yan, Xianghui Zhang, Xinping Wang, Boyu Cao, Heng Guo
PURPOSE: The polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene C677T has been linked to H-type hypertension. But the conclusion remained controversial. To elucidate this issue, we performed a comprehensive meta-analysis to analyze the MTHFR C677T polymorphism and H-type hypertension. MATERIALS AND METHODS: The English and Chinese databases were systematically searched to identify relevant studies until November 2020. RevMan 5.3 and Stata 12.0 software were used for meta-analysis...
April 8, 2022: Annals of Human Genetics
Stacey S Cherny, Frances M K Williams, Gregory Livshits
Metabolic syndrome (MetS) is diagnosed by the presence of high scores on three or more metabolic traits, including systolic and diastolic blood pressure (SBP, DBP), glucose and insulin levels, cholesterol and triglyceride (TG) levels, and central obesity. A diagnosis of MetS is associated with increased risk of cardiovascular disease and type 2 diabetes. The components of MetS have long been demonstrated to have substantial genetic components, but their genetic overlap is less well understood. The present paper takes a multi-prong approach to examining the extent of this genetic overlap...
March 31, 2022: Annals of Human Genetics
Ming Tan, Klaus Brusgaard, Anne-Marie Gerdes, Martin Jakob Larsen, Michael Bau Mortensen, Sönke Detlefsen, Ove B Schaffalitzky de Muckadell, Maiken Thyregod Joergensen
No abstract text is available yet for this article.
March 21, 2022: Annals of Human Genetics
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