{"id":"https://openalex.org/W4410247006","doi":"https://doi.org/10.1111/cen.15269","title":"The Role of AMH and AMHR2 Variants in Polycystic Ovary Syndrome: \u2018A Comprehensive Analysis\u2019","display_name":"The Role of AMH and AMHR2 Variants in Polycystic Ovary Syndrome: \u2018A Comprehensive Analysis\u2019","publication_year":2025,"publication_date":"2025-05-08","ids":{"openalex":"https://openalex.org/W4410247006","doi":"https://doi.org/10.1111/cen.15269","pmid":"https://pubmed.ncbi.nlm.nih.gov/40344233"},"language":"en","primary_location":{"id":"doi:10.1111/cen.15269","doi":"https://doi.org/10.1111/cen.15269","is_oa":false,"landing_page_url":"https://doi.org/10.1111/cen.15269","pdf_url":null,"source":{"id":"https://openalex.org/S182143151","display_name":"Clinical Endocrinology","issn_l":"0300-0664","issn":["0300-0664","1365-2265"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Endocrinology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5043635864","display_name":"Sameh Sarray","orcid":"https://orcid.org/0000-0001-5980-8010","observed_orcids":["https://orcid.org/0000-0001-5980-8010"]},"institutions":[{"id":"https://openalex.org/I108714496","display_name":"Tunis University","ror":"https://ror.org/02q1spa57","country_code":"TN","type":"education","lineage":["https://openalex.org/I108714496"]},{"id":"https://openalex.org/I53218197","display_name":"Arabian Gulf University","ror":"https://ror.org/04gd4wn47","country_code":"BH","type":"education","lineage":["https://openalex.org/I53218197"]},{"id":"https://openalex.org/I63596082","display_name":"Tunis El Manar University","ror":"https://ror.org/029cgt552","country_code":"TN","type":"education","lineage":["https://openalex.org/I63596082"]}],"countries":["BH","TN"],"is_corresponding":false,"raw_author_name":"Sameh Sarray","raw_affiliation_strings":["College of Medicine and Health Sciences Arabian Gulf University Manama Bahrain","Faculty of Sciences University of Tunis EL Manar Tunis Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"College of Medicine and Health Sciences Arabian Gulf University Manama Bahrain","institution_ids":["https://openalex.org/I53218197"]},{"raw_affiliation_string":"Faculty of Sciences University of Tunis EL Manar Tunis Tunisia","institution_ids":["https://openalex.org/I108714496","https://openalex.org/I63596082"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007725490","display_name":"Intissar Ezzidi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I166928557","display_name":"University of Monastir","ror":"https://ror.org/00nhtcg76","country_code":"TN","type":"education","lineage":["https://openalex.org/I166928557"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Intissar Ezzidi","raw_affiliation_strings":["Higher Institute of Biotechnology of Monastir University of Monastir Monastir Tunisia","Laboratory of Human Genome and Multifactorial Diseases (LR12ES07), Faculty of Pharmacy of Monastir University of Monastir Monastir Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Higher Institute of Biotechnology of Monastir University of Monastir Monastir Tunisia","institution_ids":["https://openalex.org/I166928557"]},{"raw_affiliation_string":"Laboratory of Human Genome and Multifactorial Diseases (LR12ES07), Faculty of Pharmacy of Monastir University of Monastir Monastir Tunisia","institution_ids":["https://openalex.org/I166928557"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031485941","display_name":"Assila Ben Salem","orcid":"https://orcid.org/0000-0003-4724-5438","observed_orcids":["https://orcid.org/0000-0003-4724-5438"]},"institutions":[{"id":"https://openalex.org/I166928557","display_name":"University of Monastir","ror":"https://ror.org/00nhtcg76","country_code":"TN","type":"education","lineage":["https://openalex.org/I166928557"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Assila Ben Salem","raw_affiliation_strings":["Laboratory of Human Genome and Multifactorial Diseases (LR12ES07), Faculty of Pharmacy of Monastir University of Monastir Monastir Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Human Genome and Multifactorial Diseases (LR12ES07), Faculty of Pharmacy of Monastir University of Monastir Monastir Tunisia","institution_ids":["https://openalex.org/I166928557"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015680333","display_name":"Hassen Ben Abdennebi","orcid":"https://orcid.org/0000-0001-5474-5268","observed_orcids":["https://orcid.org/0000-0001-5474-5268"]},"institutions":[{"id":"https://openalex.org/I166928557","display_name":"University of Monastir","ror":"https://ror.org/00nhtcg76","country_code":"TN","type":"education","lineage":["https://openalex.org/I166928557"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Hassen Ben Abdennebi","raw_affiliation_strings":["Laboratory of Human Genome and Multifactorial Diseases (LR12ES07), Faculty of Pharmacy of Monastir University of Monastir Monastir Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Human Genome and Multifactorial Diseases (LR12ES07), Faculty of Pharmacy of Monastir University of Monastir Monastir Tunisia","institution_ids":["https://openalex.org/I166928557"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5042229393","display_name":"Nabil Mtiraoui","orcid":"https://orcid.org/0000-0003-4113-3945","observed_orcids":["https://orcid.org/0000-0003-4113-3945"]},"institutions":[{"id":"https://openalex.org/I166928557","display_name":"University of Monastir","ror":"https://ror.org/00nhtcg76","country_code":"TN","type":"education","lineage":["https://openalex.org/I166928557"]}],"countries":["TN"],"is_corresponding":true,"raw_author_name":"Nabil Mtiraoui","raw_affiliation_strings":["Higher Institute of Biotechnology of Monastir University of Monastir Monastir Tunisia","Laboratory of Human Genome and Multifactorial Diseases (LR12ES07), Faculty of Pharmacy of Monastir University of Monastir Monastir Tunisia"],"raw_orcid":"https://orcid.org/0000-0003-4113-3945","affiliations":[{"raw_affiliation_string":"Higher Institute of Biotechnology of Monastir University of Monastir Monastir Tunisia","institution_ids":["https://openalex.org/I166928557"]},{"raw_affiliation_string":"Laboratory of Human Genome and Multifactorial Diseases (LR12ES07), Faculty of Pharmacy of Monastir University of Monastir Monastir Tunisia","institution_ids":["https://openalex.org/I166928557"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5042229393"],"corresponding_institution_ids":["https://openalex.org/I166928557"],"apc_list":{"value":4250,"currency":"USD","value_usd":4250},"apc_paid":null,"fwci":2.2606,"has_fulltext":false,"cited_by_count":4,"citation_normalized_percentile":{"value":0.86248608,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":97,"max":98},"biblio":{"volume":"103","issue":"2","first_page":"242","last_page":"250"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10390","display_name":"Ovarian function and disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10390","display_name":"Ovarian function and disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11956","display_name":"Sexual Differentiation and Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/polycystic-ovary-syndrome","display_name":"polycystic ovary syndrome","score":1.0},{"id":"https://openalex.org/keywords/anti-mullerian-hormone","display_name":"anti-M\u00fcllerian hormone","score":0.9150000214576721},{"id":"https://openalex.org/keywords/amhr2","display_name":"AMHR2","score":0.8389999866485596},{"id":"https://openalex.org/keywords/genetic-susceptibility","display_name":"genetic susceptibility","score":0.9049999713897705},{"id":"https://openalex.org/keywords/serum-amh-levels","display_name":"serum AMH levels","score":0.972000002861023},{"id":"https://openalex.org/keywords/lipid-metabolism","display_name":"lipid metabolism","score":0.8999999761581421},{"id":"https://openalex.org/keywords/triglycerides","display_name":"triglycerides","score":0.9860000014305115},{"id":"https://openalex.org/keywords/hdl-cholesterol","display_name":"HDL cholesterol","score":0.9959999918937683},{"id":"https://openalex.org/keywords/epistasis","display_name":"epistasis","score":0.7319999933242798},{"id":"https://openalex.org/keywords/tunisian-women","display_name":"Tunisian women","score":0.8999999761581421}],"concepts":[{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.7732665538787842},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.7678032517433167},{"id":"https://openalex.org/C3018442814","wikidata":"https://www.wikidata.org/wiki/Q500816","display_name":"Polycystic ovary","level":4,"score":0.747265100479126},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6745820045471191},{"id":"https://openalex.org/C2778780466","wikidata":"https://www.wikidata.org/wiki/Q21108939","display_name":"Anti-M\u00fcllerian hormone","level":3,"score":0.6488601565361023},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.5861479043960571},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.46536993980407715},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.45592737197875977},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.45321741700172424},{"id":"https://openalex.org/C71315377","wikidata":"https://www.wikidata.org/wiki/Q11364","display_name":"Hormone","level":2,"score":0.31741344928741455},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.31012749671936035},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.1932103931903839},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.1918272078037262},{"id":"https://openalex.org/C511355011","wikidata":"https://www.wikidata.org/wiki/Q12174","display_name":"Obesity","level":2,"score":0.094048410654068},{"id":"https://openalex.org/C2777391703","wikidata":"https://www.wikidata.org/wiki/Q1053470","display_name":"Insulin resistance","level":3,"score":0.08362999558448792}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011085","descriptor_name":"Polycystic Ovary Syndrome","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D011085","descriptor_name":"Polycystic Ovary Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016022","descriptor_name":"Case-Control Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018000","descriptor_name":"Receptors, Peptide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018125","descriptor_name":"Receptors, Transforming Growth Factor beta","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D054304","descriptor_name":"Anti-Mullerian Hormone","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D054304","descriptor_name":"Anti-Mullerian Hormone","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1111/cen.15269","doi":"https://doi.org/10.1111/cen.15269","is_oa":false,"landing_page_url":"https://doi.org/10.1111/cen.15269","pdf_url":null,"source":{"id":"https://openalex.org/S182143151","display_name":"Clinical Endocrinology","issn_l":"0300-0664","issn":["0300-0664","1365-2265"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Endocrinology","raw_type":"journal-article"},{"id":"pmid:40344233","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40344233","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical endocrinology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":37,"referenced_works":["https://openalex.org/W1849487651","https://openalex.org/W1971801264","https://openalex.org/W1979474395","https://openalex.org/W1997386473","https://openalex.org/W2019068032","https://openalex.org/W2055596915","https://openalex.org/W2082055243","https://openalex.org/W2085979631","https://openalex.org/W2106998956","https://openalex.org/W2118094114","https://openalex.org/W2133996057","https://openalex.org/W2134989837","https://openalex.org/W2142340415","https://openalex.org/W2170395027","https://openalex.org/W2186218348","https://openalex.org/W2226679745","https://openalex.org/W2475767983","https://openalex.org/W2547149066","https://openalex.org/W2600767115","https://openalex.org/W2613806031","https://openalex.org/W2884536266","https://openalex.org/W2915248280","https://openalex.org/W2997245302","https://openalex.org/W3020526268","https://openalex.org/W3047889783","https://openalex.org/W3080907037","https://openalex.org/W3157002708","https://openalex.org/W3214873632","https://openalex.org/W4225135349","https://openalex.org/W4225584243","https://openalex.org/W4282018315","https://openalex.org/W4283266826","https://openalex.org/W4291982393","https://openalex.org/W4300089712","https://openalex.org/W4324359928","https://openalex.org/W4362459801","https://openalex.org/W4385804356"],"related_works":["https://openalex.org/W2522973919","https://openalex.org/W2142340415","https://openalex.org/W4413992892","https://openalex.org/W7113309581","https://openalex.org/W2376053825","https://openalex.org/W2385913640","https://openalex.org/W2944377470","https://openalex.org/W3001509241","https://openalex.org/W4393022535","https://openalex.org/W4416345105"],"abstract_inverted_index":{"BACKGROUND:":[0],"Variants":[1],"in":[2,36,69,93,107,136,270],"the":[3,21,46,56,94,108,117,137,179,193,201,240,276],"genes":[4],"encoding":[5],"anti-mullerian":[6],"hormone":[7],"(AMH)":[8],"and":[9,51,55,81,88,100,114,143,150,164,168,183,204,235,242,256],"its":[10],"receptor":[11],"2":[12],"(AMHR2)":[13],"have":[14,38],"been":[15,39],"identified":[16],"as":[17,60,62,102,104,198,200],"potential":[18,47],"contributors":[19],"to":[20,44,188],"development":[22],"of":[23,58,146,159],"polycystic":[24],"ovary":[25],"syndrome":[26],"(PCOS).":[27],"However,":[28,213],"results":[29],"from":[30],"association":[31,48],"studies":[32],"examining":[33],"their":[34,63],"role":[35,269],"PCOS":[37,59,79,138,169,251,263],"inconsistent.":[40],"This":[41],"study":[42,76],"aims":[43],"investigate":[45],"between":[49,162],"AMH":[50,67,95,124,163,180,230,241,255],"AMHR2":[52,109,165,194,243,257],"gene":[53,96,166],"variants":[54,92,106,167,244,258],"risk":[57],"well":[61,103,199],"influence":[64,262],"on":[65,228],"serum":[66,123,229],"levels":[68,125,145,231],"a":[70,268],"Tunisian":[71],"cohort.":[72],"METHODS:":[73],"The":[74,157],"case-control":[75],"recruited":[77],"327":[78],"women":[80],"396":[82],"healthy":[83],"controls.":[84],"DNA":[85],"was":[86,224],"extracted":[87],"genotyped":[89],"for":[90],"three":[91,105],"namely,":[97],"rs4807216,":[98],"rs10407022":[99],"rs8112524":[101,181],"gene,":[110],"including":[111,140],"rs2002555,":[112],"rs11170553":[113,202],"rs2272002,":[115],"using":[116,128],"TaqMan":[118],"SNP":[119],"genotyping":[120],"assay.":[121],"Fasting":[122],"were":[126,134,186,207,221],"quantified":[127],"ELISA.":[129],"RESULTS:":[130],"Significant":[131],"metabolic":[132],"differences":[133],"observed":[135],"cohort,":[139],"higher":[141],"BMI,":[142],"elevated":[144],"AMH,":[147],"glucose,":[148],"triglycerides,":[149],"cholesterol,":[151],"along":[152],"with":[153,175,209,275],"lower":[154],"FSH":[155],"levels.":[156,212],"investigation":[158],"genetic":[160],"associations":[161,220],"susceptibility":[170],"revealed":[171],"notable":[172],"genotype-specific":[173],"correlations":[174],"lipid":[176,272],"profiles.":[177],"Specifically,":[178],"A/A":[182],"G/A":[184],"genotypes":[185],"correlated":[187,208],"increased":[189],"triglyceride":[190],"levels,":[191],"while":[192],"rs2002555":[195],"G/G":[196],"genotype,":[197],"T/T":[203],"C/T":[205],"genotypes,":[206],"decreased":[210],"HDL":[211],"no":[214,246],"significant":[215,247],"allelic,":[216],"genotypic":[217],"or":[218],"haplotypic":[219],"identified,":[222],"nor":[223],"any":[225],"substantial":[226],"impact":[227],"observed.":[232],"Additionally,":[233],"interaction":[234],"epistasis":[236],"analyses":[237],"indicated":[238],"that":[239],"had":[245],"predictive":[248],"capabilities":[249],"regarding":[250],"susceptibility.":[252],"CONCLUSION:":[253],"Although":[254],"may":[259],"not":[260],"directly":[261],"susceptibility,":[264],"they":[265],"could":[266],"play":[267],"modulating":[271],"metabolism":[273],"associated":[274],"syndrome.":[277]},"counts_by_year":[{"year":2026,"cited_by_count":4}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2025-05-10T00:00:00"}