Whole-genome sequence-based analysis of thyroid function
نویسندگان
چکیده
Normal thyroid function is essential for health, but its genetic architecture remains poorly understood. Here, for the heritable thyroid traits thyrotropin (TSH) and free thyroxine (FT4), we analyse whole-genome sequence data from the UK10K project (N=2,287). Using additional whole-genome sequence and deeply imputed data sets, we report meta-analysis results for common variants (MAF≥1%) associated with TSH and FT4 (N=16,335). For TSH, we identify a novel variant in SYN2 (MAF=23.5%, P=6.15 × 10(-9)) and a new independent variant in PDE8B (MAF=10.4%, P=5.94 × 10(-14)). For FT4, we report a low-frequency variant near B4GALT6/SLC25A52 (MAF=3.2%, P=1.27 × 10(-9)) tagging a rare TTR variant (MAF=0.4%, P=2.14 × 10(-11)). All common variants explain ≥20% of the variance in TSH and FT4. Analysis of rare variants (MAF<1%) using sequence kernel association testing reveals a novel association with FT4 in NRG1. Our results demonstrate that increased coverage in whole-genome sequence association studies identifies novel variants associated with thyroid function.
منابع مشابه
A Novel Genetic classification of SARS coronavirus-2 following whole nucleic acid and protein alignment of the isolated viruses
Background and aims: The end of 2019 has marked the year, which the human population encountered a novel virus; SARS-CoV-2 that causes a disease namely COVID-19. Here we focused on the genome and protein mutations and subsequently suggested a new classification of the SARS-CoV-2. Materials and Methods: Our study showed that some extra positions in the virus genome play a key role in the SARS-C...
متن کاملCalculation of Thyroid Dose with Planner System and Evaluation of Thyroid Function after Radiotherapy for Patients with Breast Cancer
Background: Much research has widely been conducted into thyroid hormones levels following radiotherapy for breast cancer. Consequently, in this study, we evaluated to relate the rate of thyroid hormones levels with the dose distribution among breast cancer patients.Material and Methods: Thirty patients were treated with 4-field breast cancer radiotherapy. The dose volume histograms, the volume...
متن کاملComparative bioinformatics analysis of a wild diploid Gossypium with two cultivated allotetraploid species
Background: Gossypium thurberi is a wild diploid species that has been used to improve cultivated allotetraploid cotton. G. thurberi belongs to D genome, which is an important wild bio-source for the cotton breeding and genetic research. To a certain degree, chloroplast DNA sequence information are a versatile tool for species identification and phylogenetic implications in plants. Different ch...
متن کاملRadiation-induced Hypothyroidism in Head and Neck Malignancy
Background and Objective: Hypothyroidism is a known consequence of the external beam radiotherapy to the neck encompassing the thyroid gland for over 40 years. The aim of this study was to find out the incidence of hypothyroidism in patients with head and neck cancer treated with radiotherapy, when radia...
متن کاملProfile of Eight Prophage Sequences Present in the Genomes of Different Acinetobacter baumannii Strains
ABSTRACT Background and Objective: Prophage sequences are major contributors to interstrain variations within the same bacterial species. Acinetobacter baumannii is a gram-negative bacterium that causes a wide range of nosocomial infections, especially in intensive care unit inpatients. Prophage sequences constitute a considerable proporti...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 6 شماره
صفحات -
تاریخ انتشار 2015