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Preterm labor and birth
Published in Moshe Hod, Vincenzo Berghella, Mary E. D'Alton, Gian Carlo Di Renzo, Eduard Gratacós, Vassilios Fanos, New Technologies and Perinatal Medicine, 2019
Vincenzo Berghella, Eduardo da Fonseca
There are several recent studies and reviews on possible genetic etiologies, or at least associations, with PTB (3–5). These in general confirm the different pathways associated so far with PTB and risk factors. For example, a recent review highlighted genetic variants detected by whole exome (or genome in some cases) sequencing (WES) pointing to the negative regulation (dampening) of the innate immune response (e.g., CARD6, CARD8, NLRP10, NLRP12, NOD2, TLR10) and antimicrobial peptide/proteins (e.g., DEFB1, MBL2) associated with PTB (3). These genetic associations support the concept that PTB, at least in part, has an inflammatory etiology, which can be induced either by pathogens (i.e., intra-amniotic infection) or “danger signals” (e.g., alarmins) released during cellular stress or necrosis (i.e., sterile intra-amniotic inflammation) (3). PTB has a polygenic basis that involves mutations or damaging variants in multiple genes involved in innate immunity and host defense mechanisms against microbes and their noxious products. WES is the most promising approach for the identification of functionally significant genetic variants responsible for spontaneous PTB (3).
TLRs/NLRs: Shaping the landscape of host immunity
Published in International Reviews of Immunology, 2018
Komal Dolasia, Manoj K Bisht, Gourango Pradhan, Atul Udgata, Sangita Mukhopadhyay
The NLR proteins are intracellular cytoplasmic sensors conserved throughout the plant and animal kingdoms. Although they are primarily expressed in macrophages and other antigen presenting cells, they are also expressed in lymphocytes and non-immune cells. This family has 23 members with similar tripartite structure consisting of a C-terminal leucine-rich repeat (LRR) domain that bind ligands, a central nucleotide-binding domain (NACHT domain) which is critical for self-oligomerization, and a variable N-terminal domain.8 NLRs are subdivided on the basis of amino-terminal domain,9 such as (i) NLRA, A for acidic transactivating domain which includes CIITA, (ii) NLRB, B for BIRs (baculovirus inhibitor repeat motif), the only member of this family is NAIP, (iii) NLRC, where C stands for CARD (caspase recruitment domain) which includes NOD1, NOD2, NLRC3 (NLR family CARD domain-containing protein 3), NLRC4 (Ipaf), NLRC5 and iv) NLRP, where P stands for a pyrin (PYD). This group contains NLRP1 (NLR Family Pyrin Domain Containing 1), NLRP2, NLRP3, NLRP4, NLRP5, NLRP6, NLRP7, NLRP8, NLRP9 and NLRP10.10,11