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    ADRB2 and ACE Gene Polymorphisms in COPD Susceptibility
    (Mongolian National University of Medical Sciences, 2016-11-25) ;
    Jamyansuren, Jambaldorj
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    Puntsag, Odonchimeg
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    ;
    Objectives: Recent studies have established that rs1042713 and rs1042714 polymorphisms in the ADRB2 and rs4646994 in the ACE gene may have an influence on chronic obstructive pulmonary disease (COPD) development and its severity. The aim of this study was to investigate the association of ACE and ADRB2 gene polymorphisms with COPD. Methods: 100 patients with COPD and 100 healthy volunteers were randomly involved in this case-control study. The gene polymorphisms were identified by polymerase chain reaction (PCR) and restriction fragment length polymorphism analysis. Results: No significant differences were observed for allele and genotype frequencies of the rs4646994 polymorphism in the ACE gene between case and control groups (p > 0.05). Genotype frequencies of Gly/Gly16 (OR = 2.31, 95% CI = 1.23-4.32, p = 0.027) and Gln/Gln27 (OR = 2.04, 95% CI = 1.14-3.63, p = 0.044) of the ADRB2 gene were more prevalent in COPD patients than the controls. Also, the proportion of the Gly16+Gln27 haplotype was statistically different between both groups (OR = 2.62, 95% CI: 1.65-4.15, p<0.001) Conclusion: There is no relation between the rs4646994 polymorphism in the ACE gene and COPD, but the homozygote Gly/Gly16 and Gln/Gln27 variations of the ADRB2 gene may increase the carrier’s susceptibility to the development of COPD.
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    Цар тахлын эхэн үед Монгол улсад голомтлон тархсан SARS-CoV-2-ийн удмын хэв шинжийг тодорхойлсон дүн
    (2023-02-16)
    Э.Мөнхтуяа
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    Т.Сувд
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    Б.Отгонжаргал
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    Б.Номин
    Үндэслэл: SARS-CoV-2-ийн мутацийг илрүүлж удмын хэв шинжийг тодорхойлох нь тархвар зүйн болон эмнэлзүйн олон талын ач холбогдолтой болохыг судлаачид онцлон тэмдэглэжээ. Цар тахлын эхэн үед нуклейн хүчлийн дарааллыг тогтоох шинжилгээний хязгаарлагдмал байдлаас шалтгаалж Монгол улсад голомтлон тархсан шинэ коронавирусийн геномын судалгаа хомс хийгдсэн, мэдээ баримт дутмаг байгаа нь энэхүү судалгаа хийх үндэслэл боллоо. Зорилго: Монгол улсад голомтлон тархсан SARS-CoV-2-ийн удмын хэв шинжийг тогтоох. Арга, аргачлал: 2020 оны 11 дүгээр сараас 2021 оны 5 дугаар сар хүртэлх хугацаанд дотоодын халдварын батлагдсан тохиолдлын хадгалагдаж буй шинжлэгдэхүүнээс түүвэрлэн авч, SARS-CoV-2-ийн S генийн өвөрмөц мутацийг бодит хугацааны урвуу транскрипцийн полимеразын гинжин урвал (бх-УТ-ПГУ)-ын аргаар илрүүлж, вирусийн бүтэн геномын дарааллыг нанопор технологи (MinION Mk1C) ашиглан тогтоож EPI2ME программаар дүгнэлээ. Үр дүн: Судалгаанд батлагдсан тохиолдлын нийт 1656 шинжлэгдэхүүнийг хамруулан S генийн E484K, N501Y, HV69/70 делеци мутаци илрүүлэх бх-УТ-ПГУ-ын шинжилгээ хийхэд 91.3% (1512)-д дээрх мутациуд илрээгүй. Харин 5.4% (89)д N501Y, HV69/70 делецийн мутаци хавсран илэрсэн буюу Альфа хувилбар, 3.3% (55)-д E484K, N501Y, HV69/70 делецийн мутациуд хувилбарыг нь таамаглах боломжгүйгээр дангаар болон хавсарч илэрсэн. Вирусийн бүтэн геномын дараалал тогтоох шинжилгээг 342 тохиолдолд хийхэд (Alpha, V1) (B.1.1.7) хувилбар 2.3% (8)-ийг эзэлж байна. Харин 21C (Epsilon) (B.1.429), 19A, 20A хувилбар тус бүр 1-2 тохиолдолд илэрлээ. Дүгнэлт: 1. Монгол улсад 2020 оны 11 дүгээр сараас эхлэн 2021 оны 5 дугаар сар хүртэлх хугацаанд тархсан SARSCoV-2-ийн омгуудын дийлэнх нь S генийн E484K, N501Y, HV69/70 делеци мутаци агуулаагүй хувилбар байсан ба Alpha хувилбар 1 сараас эхлэн илэрсэн байна. 2. Монгол улсад цар тахлын эхэн үед SARS-CoV-2 –ийн 20В (B.1.1.46) хувилбар давамгайлан тархсан болох нь батлагдсан ба халдварлах чадамж өндөртэй Альфа хувилбар 2021 оны 1 дүгээр сараас эхлэн бүртгэгдэж эхэлсэн боловч нийгмийн эрүүл мэндийн арга хэмжээний дүнд тархалт нь харьцангуй хязгаарлагдаж байсан байна.
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    Монгол хүний удамзүйн судалгаануудын тойм
    (2023-05-18)
    Н.Уянгахорол
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    ; ;
    Т.Сувд
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    Үндэслэл: Сүүлийн хэдэн арван жилд хүний удамшлын өвчин, Удмын мэдээлэл зонхилон тохиолдох өвчлөл, тэр ч байтугай халдварт өвчний удамшлын Харьцуулсан урьдач нөхцлийг сонирхон судлах нь нэмэгдэж, генетикийн судалгааны судалгаа аргачлал, технологийн хурдацтай дэвшилтэй зэрэгцэн генетик вариац Вариац ба өвчин хоорондын холбоо хамаарлын тухай асар их хэмжээний Эрсдэлт хүчин судалгааны баримт нотолгоонууд нийтлэгдсэн байна. Харин Монгол зүйл хүн амын дунд 1995 оноос хойш нэг нуклеотидын полиморфизм, богино давтагдсан дараалал, мутаци болон бусад генетик вариацуудыг судалсан олон тооны баримт байна. Генетикийн вариацуудыг судалсан судалгааны материал, нотолгоо нэмэгдэхийн хэрээр тэдгээрийг нэгтгэх, системчлэх, дүн шинжилгээ хийх, олон улсад хийгдсэн судалгаануудтай харьцуулах хэрэгцээ шаардлага урган гарч байна. Гэвч манай оронд генетик вариациуд, судалгааны баримт, нотолгоог нэгтгэсэн, тоймолсон судалгаа хараахан хийгдээгүй, мэдээллийн сан байхгүй байсаар байна. Зорилго: Өвчин эмгэгтэй холбоо хамааралтай кандидат ген, тэдгээрийн вариацууд, судалгааны ажлуудыг харьцуулах, нэгтгэх Арга, аргачлал: Бид тохиолдол хяналт, нэг агшингийн, тохиолдлын болон генетик хүчин зүйлийг өвчинтэй холбон судалсан бусад төрлийн судалгаануудыг сонгон авсан. Бүх судалгааны материалыг 1. Монголчуудын удамзүйн харьцуулсан судалгаа, 2. ховор тохиолдох удамшлын эмгэгийн судалгаа, 3. зонхилон тохиолдох өвчлөлийн удмын эрсдэлт хүчин зүйлийн судалгаа гэсэн 3 бүлэгт хуваасан. Үр дүн: Удамзүйн харьцуулсан 8 судалгаа байсан бөгөөд Монголчуудад өвөрмөц HLA аллелиуд, гаплобүлэг, ХY хромосомын микросателлит маркеруудыг тогтоожээ. Ховор тохиолдох удамшлын эмгэгийн удамзүйн судалгаагаар өвчтөн ба түүний гэр бүлийн хүмүүст 15 генийн 91 вариацыг шинжилжээ. Нийт 14 генийн 44 вариац илрүүлсэн байна. Зонхилон тохиолдох өвчлөлийн удмын судалгаагаар 71 полиморфизмыг 19 өвчтэй холбон судалсан. ApoA5 rs662799 (T/C+C/C, OR=1.87; 95% ИИ, 1.17-3.01; p=0.01), PGC-1α rs8192678 (G/G, OR=2.12; 95% ИИ, 1.09-4.13; p=0.027), LPL rs285 (C/C, OR=3.02; 95% ИИ, 1.61-5.63; p=0.0005), ADIPOQ rs2241766 (T/G, OR=2.27; 95% ИИ, 1.42-3.64; p=0.0006) полиморфизмууд бодисын солилцооны хам шинжид эрсдэл нөлөөтэй байсан. 19 полиморфизм УАБӨ, ГХБӨ, НХШТС, уушгины хавдар, хөхний хавдар, яс сийрэгжилт, чихрийн шижин ба эпилепситэй холбоо хамааралтай байлаа. Дүгнэлт: Бид энэ судалгаагаар анхан шатны тойм гарган зарим холбоо хамаарлыг судаллаа. Цаашид Монголчуудын дунд өвчлөл үүсэх эрсдлийг нэмэгдүүлэх генетик маркеруудыг тодорхойлж, нөлөөллийг тогтоохын тул илүү олон тооны нотолгоо, тойм судалгаанууд шаардлагатай байна.
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    The genetic analysis of eight families with hemophilia B in Mongolia: Identification of two novel mutation
    BACKGROUND: This study aimed to conduct molecular diagnostics among individuals with hemophilia B (HB) and carriers of hemophilia in Mongolia. METHODS: Eight patients (six severe, two mild) with HB and their 12 female relatives were enrolled from eight families. Sanger sequence was performed for mutation identification. The questionnaire survey was conducted to evaluate carrier symptoms in female relatives. RESULTS: Two families had a history of HB. A total of five different variants (c.223C > T; c.344A > G; c.464G > C; c.187_188del; and c.1314_1314delA) were identified in six patients with severe HB. Of these, two (c.187_188del and c.1314_1314delA) were novel. No variant in the entire F9 was found in two patients with mild HB. Nonsense c.223C > T (p.Arg75*) mutation was detected in two unrelated patients. Carrier testing identified five mothers as carriers, while one younger sister was a non-carrier. The carrier status of six female relatives of the two mild patients remained undetermined. By questionnaire survey, only one of the five genetically identified carriers displayed noticeable symptoms of being a carrier. CONCLUSION: The novel variants c.187_188del and c.1314_1314delA can cause severe hemophilia B. This study did not observe a significant association between symptoms and carrier status in the five carriers.
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    SARS-CoV-2 seroepidemiology in Mongolia, 2020-2021: a longitudinal national study
    (Elsevier BV, 2023-04) ;
    Bailie, Christopher R
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    Price, David J
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    BACKGROUND: The COVID-19 pandemic has global impacts but is relatively understudied in developing countries. Mongolia, a lower-middle-income country, instituted strict control measures in early 2020 and avoided widespread transmission until vaccines became available in February, 2021. Mongolia achieved its 60% vaccination coverage goal by July 2021. We investigated the distribution and determinants of SARS-CoV-2 seroprevalence in Mongolia over 2020 and 2021. METHODS: We performed a longitudinal seroepidemiologic study aligned with WHO's Unity Studies protocols. We collected data from a panel of 5000 individuals in four rounds between October 2020 and December 2021. We selected participants through local health centres across Mongolia by age-stratified multi-stage cluster sampling. We tested serum for the presence of total antibodies against SARS-CoV-2 receptor-binding domain, and levels of anti-SARS-CoV-2 spike IgG and neutralising antibodies. We linked participant data with national mortality, COVID-19 case, and vaccination registries. We estimated population seroprevalence and vaccine uptake, as well as unvaccinated population prior-infection prevalence. FINDINGS: At the final round in late 2021, 82% (n = 4088) of participants completed follow-up. Estimated seroprevalence increased from 1.5% (95% CI: 1.2-2.0), to 82.3% (95% CI: 79.5-84.8) between late-2020 and late-2021. At the final round an estimated 62.4% (95% CI: 60.2-64.5) of the population were vaccinated, and of the unvaccinated population 64.5% (95% CI: 59.7-69.0) had been infected. Cumulative case ascertainment in the unvaccinated was 22.8% (95% CI: 19.1%-26.9%) and the overall infection-fatality ratio was 0.100% (95% CI: 0.088-0.124). Health workers had higher odds for being COVID-19 confirmed cases at all rounds. Males (1.72 (95% CI: 1.33-2.22)) and adults aged 20 and above (12.70 (95% CI: 8.14-20.26)) had higher odds for seroconverting by mid-2021. Among the seropositive, 87.1% (95% CI: 82.3%-90.8%) had SARS-CoV-2 neutralising antibodies by late 2021. INTERPRETATION: Our study enabled tracking of SARS-CoV-2 serological markers in the Mongolian population over one year. We found low SARS-CoV-2 seroprevalence in 2020 and early 2021, with seropositivity increasing over a 3-month interval in 2021 due to vaccine roll out and rapid infection of most of the unvaccinated population. Despite high seroprevalence in Mongolia amongst both vaccinated and unvaccinated individuals by end-2021, the SARS-CoV-2 Omicron immune escape variant caused a substantial epidemic. FUNDING: World Health Organization, WHO UNITY Studies initiative, with funding by the COVID-19 Solidarity Response Fund and the German Federal Ministry of Health (BMG) COVID-19 Research and development. The Ministry of Health, Mongolia partially funded this study.
    Scopus© Citations 6
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    SARS-CoV-2 seroprevalence in Mongolia: Results from a national population survey
    (Elsevier BV, 2021-12) ; ;
    Le, Linh-Vi
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    ;
    BACKGROUND: With the global spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in early 2020, Mongolia implemented rapid emergency measures and did not report local transmission until November 2020. We conducted a national seroprevalence survey to monitor the burden of SARS-CoV-2 in Mongolia in the months surrounding the first local transmission. METHODS: During October-December 2020, participants were randomly selected using age stratification and invited for interviews and blood samples at local primary health centres. We screened for total SARS-CoV-2 antibodies, followed by two-step quantitative SARS-CoV-2 IgG serology tests for positive samples. Weighted and test-adjusted seroprevalences were estimated. We used chi-square, Fisher's exact and other tests to identify variables associated with seropositivity. FINDINGS: A total of 5000 subjects were enrolled. We detected SARS-CoV-2 IgG antibodies in 72 samples. Crude seroprevalence of SARS-CoV-2 antibodies was 1·44% (95%CI,1·21-1·67). Population weighted and test-adjusted seroprevalences were 1·36% (95%CI,1·11-1·63) and 1·45% (95%CI,1·11-1·63), respectively. Age, sex, geographical, and occupational factors were not associated with seropositivity (p>0·05). Symptoms and signs within past 3 months and seropositivity were not associated at the time of the survey (p>0·05). INTERPRETATION: SARS-CoV-2 seroprevalence in Mongolia was low in the first year of the pandemic potentially due to strong public health measures, including border restrictions, educational facilities closure, earlier adoption of mask-wearing and others. Our findings suggest large-scale community transmission could not have occurred up to November 2020 in Mongolia. Additional serosurveys are needed to monitor the local pandemic dynamic and estimate how far from herd immunity Mongolia will be following-up with vaccination programme in 2021 and 2022. FUNDING: World Health Organisation, WHO UNITY Studies initiative, with funding by the COVID-19 Solidarity Response Fund and the German Federal Ministry of Health (BMG) COVID-19 Research and development. TRANSLATION: Cyrillic and Traditional Mongolian translation of abstract is available on appendix section.
    Scopus© Citations 14
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    Molecular epidemiology of SARS-CoV-2 in Mongolia, first experience with nanopore sequencing in lower- and middle-income countries setting
    (Wiley, 2023-12) ; ; ; ;
    Burged, Natsagdorj
    BACKGROUND: Coronavirus disease (COVID-19) has had a significant impact globally, and extensive genomic research has been conducted on severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) lineage patterns and its variants. Mongolia's effective response resulted in low prevalence until vaccinations became available. However, due to the lack of systematically collected data and absence of whole genome sequencing capabilities, we conducted a two-stepped, nationally representative molecular epidemiologic study of SARS-CoV-2 in Mongolia for 2020 and 2021. METHODS: We used retrospective analysis of stored biological samples from November 2020 to October 2021 and a variant-specific real-time reverse transcription polymerase chain reaction (RT-PCR) test to detect SARS-CoV-2 variants, followed by whole genome sequencing by Nanopore technology. Samples were retrieved from different sites and stored at -70°C deep freezer, and tests were performed on samples with cycle threshold <30. RESULTS: Out of 4879 nucleic acid tests, 799 whole genome sequencing had been carried out. Among the stored samples of earlier local transmission, we found the 20B (B.1.1.46) variant predominated in the earlier local transmission period. A slower introduction and circulation of alpha and delta variants were observed compared to global dynamics in 2020 and 2021. Beta or Gamma variants were not detected between November 2020 and September 2021 in Mongolia. CONCLUSIONS: SARS-CoV-2 variants of concerns including alpha and delta were delayed in circulation potentially due to public health stringencies in Mongolia. We are sharing our initial experience with whole genome sequencing of SARS-CoV-2 from Mongolia, where sequencing data is sparse.
    Scopus© Citations 1