METHODS: Genome-wide linkage analysis was carried out on eight large extended families of NSCL/P with the total of 91 individuals among Malay population using microarray platform. Based on linkage analyses findings, copy number variation (CNV) of LPHN2, SATB2, PVRL3, COL21A1, and TOX3 were identified in four large extended families that showed linkage evidence using quantitative polymerase chain reaction (qPCR) as for a validation purpose. Copy number calculated (CNC) for each genes were determined with Applied Biosystems CopyCallerTM Software v2.0. Normal CNC of the target sequence expected was set at two.
RESULTS: Genome-wide linkage analysis had discovered several genes including TOX3 and COL21A1 in four different loci 4p15.2-p16.1, 6p11.2-p12.3, 14q13-q21, and 16q12.1. There was significant decreased, p
RESULTS: A significant nonparametric linkage (NPL) score was detected in family 100. Other suggestive NPL and logarithm of the odds (LOD) scores were attained from families 50, 58, 99 and 100 under autosomal recessive mode. Heterogeneity LOD (HLOD) score ≥ 1 was determined for all families, confirming genetic heterogeneity of the population and indicating that a proportion of families might be linked to each other. Several candidate genes in linkage intervals were determined; LPHN2 at 1p31, SATB2 at 2q33.1-q35, PVRL3 at 3q13.3, COL21A1 at 6p12.1, FOXP2 at 7q22.3-q33, FOXG1 and HECTD1 at 14q12 and TOX3 at 16q12.1.
CONCLUSIONS: We have identified several novel and known candidate genes for nonsyndromic cleft lip and/or palate through genome-wide linkage analysis. Further analysis of the involvement of these genes in the condition will shed light on the disease mechanism. Comprehensive genetic testing of the candidate genes is warranted.
OBJECTIVE: To determine if there is an association between maternal nativity and preterm birth rates among nulliparous individuals, and whether that association differs by self-reported race and ethnicity of the pregnant individual.
DESIGN, SETTING, AND PARTICIPANTS: This was a nationwide, cross-sectional study conducted using National Center for Health Statistics birth registration records for 8 590 988 nulliparous individuals aged 15 to 44 years with singleton live births in the US from 2014 to 2019. Data were analyzed from March to May 2022.
EXPOSURES: Maternal nativity (non-US-born compared with US-born individuals as the reference, wherein US-born was defined as born within 1 of the 50 US states or Washington, DC) in the overall sample and stratified by self-reported ethnicity and race, including non-Hispanic Asian and disaggregated Asian subgroups (Asian Indian, Chinese, Filipino, Japanese, Korean, Pacific Islander, Vietnamese, and other Asian), non-Hispanic Black, Hispanic and disaggregated Hispanic subgroups (Cuban, Mexican, Puerto Rican, and other Hispanic), and non-Hispanic White.
MAIN OUTCOMES AND MEASURES: The primary outcome was preterm birth (<37 weeks of gestation) and the secondary outcome was very preterm birth (<32 weeks of gestation).
RESULTS: Of 8 590 988 pregnant individuals included (mean [SD] age at delivery, 28.3 [5.8] years in non-US-born individuals and 26.2 [5.7] years in US-born individuals; 159 497 [2.3%] US-born and 552 938 [31.2%] non-US-born individuals self-identified as Asian or Pacific Islander, 1 050 367 [15.4%] US-born and 178 898 [10.1%] non-US-born individuals were non-Hispanic Black, 1 100 337 [16.1%] US-born and 711 699 [40.2%] non-US-born individuals were of Hispanic origin, and 4 512 294 [66.1%] US-born and 328 205 [18.5%] non-US-born individuals were non-Hispanic White), age-standardized rates of preterm birth were lower among non-US-born individuals compared with US-born individuals (10.2%; 95% CI, 10.2-10.3 vs 10.9%; 95% CI, 10.9-11.0) with an adjusted odds ratio (aOR) of 0.90 (95% CI, 0.89-0.90). The greatest relative difference was observed among Japanese individuals (aOR, 0.69; 95% CI, 0.60-0.79) and non-Hispanic Black individuals (aOR, 0.74; 0.73-0.76) individuals. Non-US-born Pacific Islander individuals experienced higher preterm birth rates compared with US-born Pacific Islander individuals (aOR, 1.15; 95% CI, 1.04-1.27). Puerto Rican individuals born in Puerto Rico compared with those born in US states or Washington, DC, also had higher preterm birth rates (aOR, 1.07; 95% CI, 1.03-1.12).
CONCLUSIONS AND RELEVANCE: Overall preterm birth rates were lower among non-US-born individuals compared with US-born individuals. However, there was substantial heterogeneity in preterm birth rates across maternal racial and ethnic groups, particularly among disaggregated Asian and Hispanic subgroups.
Objective: To determine whether rates of gestational diabetes among individuals at first live birth changed from 2011 to 2019 and how these rates differ by race and ethnicity in the US.
Design, Setting, and Participants: Serial cross-sectional analysis using National Center for Health Statistics data for 12 610 235 individuals aged 15 to 44 years with singleton first live births from 2011 to 2019 in the US.
Exposures: Gestational diabetes data stratified by the following race and ethnicity groups: Hispanic/Latina (including Central and South American, Cuban, Mexican, and Puerto Rican); non-Hispanic Asian/Pacific Islander (including Asian Indian, Chinese, Filipina, Japanese, Korean, and Vietnamese); non-Hispanic Black; and non-Hispanic White.
Main Outcomes and Measures: The primary outcomes were age-standardized rates of gestational diabetes (per 1000 live births) and respective mean annual percent change and rate ratios (RRs) of gestational diabetes in non-Hispanic Asian/Pacific Islander (overall and in subgroups), non-Hispanic Black, and Hispanic/Latina (overall and in subgroups) individuals relative to non-Hispanic White individuals (referent group).
Results: Among the 12 610 235 included individuals (mean [SD] age, 26.3 [5.8] years), the overall age-standardized gestational diabetes rate significantly increased from 47.6 (95% CI, 47.1-48.0) to 63.5 (95% CI, 63.1-64.0) per 1000 live births from 2011 to 2019, a mean annual percent change of 3.7% (95% CI, 2.8%-4.6%) per year. Of the 12 610 235 participants, 21% were Hispanic/Latina (2019 gestational diabetes rate, 66.6 [95% CI, 65.6-67.7]; RR, 1.15 [95% CI, 1.13-1.18]), 8% were non-Hispanic Asian/Pacific Islander (2019 gestational diabetes rate, 102.7 [95% CI, 100.7-104.7]; RR, 1.78 [95% CI, 1.74-1.82]), 14% were non-Hispanic Black (2019 gestational diabetes rate, 55.7 [95% CI, 54.5-57.0]; RR, 0.97 [95% CI, 0.94-0.99]), and 56% were non-Hispanic White (2019 gestational diabetes rate, 57.7 [95% CI, 57.2-58.3]; referent group). Gestational diabetes rates were highest in Asian Indian participants (2019 gestational diabetes rate, 129.1 [95% CI, 100.7-104.7]; RR, 2.24 [95% CI, 2.15-2.33]). Among Hispanic/Latina participants, gestational diabetes rates were highest among Puerto Rican individuals (2019 gestational diabetes rate, 75.8 [95% CI, 71.8-79.9]; RR, 1.31 [95% CI, 1.24-1.39]). Gestational diabetes rates increased among all race and ethnicity subgroups and across all age groups.
Conclusions and Relevance: Among individuals with a singleton first live birth in the US from 2011 to 2019, rates of gestational diabetes increased across all racial and ethnic subgroups. Differences in absolute gestational diabetes rates were observed across race and ethnicity subgroups.